RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | diabetes mellitus |
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Accession: | DOID:9351
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browse the term
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Definition: | A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. (DO) |
Synonyms: | exact_synonym: | diabetes |
| narrow_synonym: | monogenic diabetes; transient neonatal diabetes |
| primary_id: | MESH:D003920 |
| alt_id: | DOID:0081062 |
| xref: | EFO:0000400; EFO:1001511; ICD10CM:E08-E13; ICD9CM:250; NCI:C2985 |
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Abcc8
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ATP binding cassette subfamily C member 8
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar RGD |
PMID:3202066 PMID:9618169 PMID:9648840 PMID:10204114 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10828824 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15562009 PMID:16357843 PMID:16416420 PMID:16613899 PMID:16885549 PMID:17236890 PMID:17389331 PMID:17446535 PMID:17668386 PMID:18025408 PMID:18025464 PMID:18346985 PMID:18414213 PMID:18599530 PMID:18981553 PMID:19342262 PMID:20685672 PMID:20799350 PMID:20943781 PMID:21214702 PMID:21378087 PMID:21989597 PMID:22210575 PMID:22562119 PMID:22855730 PMID:23093687 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23771920 PMID:24622368 PMID:24768178 PMID:24814349 PMID:25306193 PMID:25525159 PMID:25555642 PMID:25741868 PMID:26467025 PMID:26839896 PMID:27271189 PMID:27538677 PMID:27681997 PMID:28095440 PMID:28346775 PMID:28492532 PMID:29207974 PMID:29216354 PMID:30487145 PMID:31002010 PMID:31110826 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32376986 PMID:32640185 PMID:32763092 PMID:32792356 PMID:33300273 PMID:33477506 PMID:33565752 PMID:33587123 PMID:33606663 PMID:34631896 PMID:36208030 PMID:36626423 PMID:36836406 PMID:16416420 More...
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RGD:1625279 |
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
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Abcg2
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ATP binding cassette subfamily G member 2
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IEP
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protein:increased expression:kidney
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RGD |
PMID:28679589 |
RGD:13439745 |
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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G
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Acp1
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acid phosphatase 1
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ISO
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RGD |
PMID:8620937 |
RGD:2313188 |
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
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G
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Ada
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adenosine deaminase
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treatment
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IEP
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RGD |
PMID:25955284 |
RGD:152998952 |
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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G
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Adcy3
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adenylate cyclase 3
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treatment
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IEP
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RGD |
PMID:23018249 |
RGD:407550180 |
NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
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G
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Adipoq
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adiponectin, C1Q and collagen domain containing
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:12860835 |
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NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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G
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Adrb1
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adrenoceptor beta 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:18378355 |
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NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259
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G
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Ager
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advanced glycosylation end product-specific receptor
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susceptibility
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ISO
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protein:decreased expression:plasma (human)
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RGD |
PMID:23396398 |
RGD:7243186 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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G
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Agpat2
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1-acylglycerol-3-phosphate O-acyltransferase 2
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:11967537 PMID:12826327 PMID:22831748 PMID:25741868 PMID:26336158 PMID:28492532 PMID:30319454 PMID:32041611 PMID:32117065 More...
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NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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G
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Aldob
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aldolase, fructose-bisphosphate B
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ISO
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mRNA:reduced expression:pancreatic islet (mouse)
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RGD |
PMID:11904435 |
RGD:2313440 |
NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:63,889,046...63,902,116
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G
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Alms1
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ALMS1, centrosome and basal body associated protein
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:2871766 PMID:18154657 PMID:21157496 PMID:21943378 PMID:22876109 PMID:23033341 PMID:24033266 PMID:24503146 PMID:24830966 PMID:25296579 PMID:25533962 PMID:25741868 PMID:25846608 PMID:26082521 PMID:26104972 PMID:26239645 PMID:26283575 PMID:26467025 PMID:26636822 PMID:27178444 PMID:28432734 PMID:28492532 PMID:28502102 PMID:28717663 PMID:29610177 PMID:30421101 PMID:32483926 PMID:32746448 PMID:32945434 PMID:33669459 PMID:34148947 PMID:34716235 PMID:36109815 More...
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NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005
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G
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Alpk1
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alpha-kinase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:27542954 |
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NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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G
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Aoc3
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amine oxidase, copper containing 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23154672 |
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NCBI chr10:86,272,757...86,280,702
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G
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Apob
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apolipoprotein B
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ISO
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protein:increased expression:serum
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RGD |
PMID:2352345 |
RGD:2313973 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G
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Apoc2
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apolipoprotein C2
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ISO
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protein:increased expression:serum
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RGD |
PMID:2352345 |
RGD:2313973 |
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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G
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Apoc3
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apolipoprotein C3
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ISO
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protein:increased expression:serum
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RGD |
PMID:2352345 |
RGD:2313973 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G
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Apoe
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apolipoprotein E
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treatment
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ISO
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RGD |
PMID:17192461 |
RGD:1601230 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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G
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Apoh
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apolipoprotein H
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ISO
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protein:increased expression:plasma mRNA:increased expression:retina
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RGD |
PMID:9377806 PMID:18695102 |
RGD:2313991, RGD:2313982 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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G
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Aqp1
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aquaporin 1
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IEP
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protein:altered localization:retina
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RGD |
PMID:19748503 |
RGD:2316076 |
NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690
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G
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Aqp4
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aquaporin 4
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IEP
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RGD |
PMID:19748503 |
RGD:2316076 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G
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Arpc3
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actin related protein 2/3 complex, subunit 3
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ISO
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associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human)
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RGD |
PMID:26504501 |
RGD:11049459 |
NCBI chr12:39,833,569...39,847,436
Ensembl chr12:34,172,780...34,186,651
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G
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Asip
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agouti signaling protein
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ISO
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associated with Obesity;DNA:mutation (mouse) CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:1473152 PMID:10426381 |
RGD:2314006 |
NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:143,555,696...143,561,171
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G
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Blk
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BLK proto-oncogene, Src family tyrosine kinase
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:18204098 PMID:18414213 PMID:19667185 PMID:24023612 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31670388 PMID:32313195 More...
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NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
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G
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Bmal1
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basic helix-loop-helix ARNT like 1
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ISS
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MouseDO |
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NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:167,331,633...167,430,231
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G
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Bscl2
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BSCL2 lipid droplet biogenesis associated, seipin
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:18690553 PMID:23430896 PMID:23963299 PMID:25588603 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29525178 PMID:30004997 PMID:31824185 PMID:32397312 PMID:35351089 More...
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NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:205,733,872...205,743,421
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G
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C12h12orf43
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similar to human chromosome 12 open reading frame 43
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:9075818 PMID:9392505 PMID:10333057 PMID:10482964 PMID:11942313 PMID:12488962 PMID:12530534 PMID:22432108 PMID:24728327 PMID:25414397 PMID:25741868 PMID:26287533 PMID:26467025 PMID:28012402 PMID:28170077 PMID:28410371 PMID:28492532 PMID:30561130 PMID:31517624 PMID:32395877 PMID:32910913 PMID:35328643 PMID:35472491 PMID:35673428 PMID:36257325 More...
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NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
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G
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Casp3
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caspase 3
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IEP
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protein:increased expression:ovary
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RGD |
PMID:28412870 |
RGD:40400904 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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G
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Cat
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catalase
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:11117918 |
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NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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G
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Cav1
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caveolin 1
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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G
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Cavin1
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caveolae associated protein 1
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31604776 PMID:32041611 PMID:33111339 More...
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NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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G
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Ccl5
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C-C motif chemokine ligand 5
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ISO
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protein:increased expression:serum
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RGD |
PMID:18385799 |
RGD:2307062 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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G
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Cd36
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CD36 molecule
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ISO
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protein:increased expression:macrophage
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RGD |
PMID:17551591 |
RGD:2307209 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G
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Cd40lg
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CD40 ligand
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ISO
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associated with Coronary Arteriosclerosis, Myocardial Infarction; protein:increased expression:serum
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RGD |
PMID:17635572 |
RGD:2314209 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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G
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Cdh1
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cadherin 1
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ISO
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associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human)
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RGD |
PMID:27411924 |
RGD:152975631 |
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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G
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Cdkal1
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CDK5 regulatory subunit associated protein 1-like 1
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ISO
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DNA:snp: :rs10946398(human)
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RGD |
PMID:19741467 |
RGD:2313940 |
NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524
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G
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Cel
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carboxyl ester lipase
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 PMID:32906201 |
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NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G
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Cela2a
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chymotrypsin like elastase 2A
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ISO
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ClinVar Annotator: match by term: Diabetes
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ClinVar |
PMID:25741868 PMID:31358993 |
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NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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G
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Clock
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clock circadian regulator
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ISS
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MouseDO |
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NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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G
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Cp
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ceruloplasmin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:12572680 |
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NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075
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G
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Cpb2
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carboxypeptidase B2
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ISO
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protein:increased expression, increased activity:plasma
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RGD |
PMID:14983223 |
RGD:2313643 |
NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556
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G
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Cpt1a
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carnitine palmitoyltransferase 1A
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:19233164 |
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NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:200,565,613...200,627,055
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G
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Csf1r
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colony stimulating factor 1 receptor
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ISO
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associated with hepatocellular��carcinoma;DNA:hypermethylation:promoter (human)
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RGD |
PMID:32724427 |
RGD:150524282 |
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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G
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Ctsb
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cathepsin B
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onset
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ISO
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DNA:transversion:cds:p.L26V (human)
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RGD |
PMID:18706099 |
RGD:2315528 |
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
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G
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Cx3cr1
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C-X3-C motif chemokine receptor 1
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ISO
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RGD |
PMID:23307960 |
RGD:9491759 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G
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Cyb5r4
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cytochrome b5 reductase 4
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ISO
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RGD |
PMID:15247412 |
RGD:2315644 |
NCBI chr 8:87,975,596...88,048,356
Ensembl chr 8:87,981,116...88,045,832
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G
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Cybb
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cytochrome b-245 beta chain
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23723366 |
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NCBI chr X:16,030,596...16,065,065
Ensembl chr X:13,359,430...13,392,586
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G
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Cyp11b3
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cytochrome P450, family 11, subfamily b, polypeptide 3
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ISO
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DNA:polymorphisms:5' utr, cds:-344C>T, p.K173R (human)
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RGD |
PMID:11687612 |
RGD:2307297 |
NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048
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G
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Cyp1a1
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cytochrome P450, family 1, subfamily a, polypeptide 1
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ISO
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associated with Smoking Inhalation Injury; DNA:polymorphism:3' UTR:5639T>C (human)
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RGD |
PMID:11996959 |
RGD:2307073 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G
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Cyp51
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cytochrome P450, family 51
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IEP
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mRNA,protein:decreased expression:liver
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RGD |
PMID:10876162 |
RGD:41412168 |
NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
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G
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Dicer1
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dicer 1 ribonuclease III
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ISO
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RGD |
PMID:22216196 |
RGD:149735536 |
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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G
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Dll4
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delta like canonical Notch ligand 4
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ameliorates
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ISO IEP
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protein:increased expression:skin:
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RGD |
PMID:30886104 PMID:29386132 PMID:30886104 |
RGD:155646129, RGD:155663360, RGD:155646129 |
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
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G
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Egfr
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epidermal growth factor receptor
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ISO
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associated with lung squamous cell carcinoma; protein:increased expression:lung (human)
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RGD |
PMID:27411924 |
RGD:152975631 |
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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G
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Eif2ak3
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eukaryotic translation initiation factor 2 alpha kinase 3
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:102,805,510...102,866,911
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G
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F3
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coagulation factor III, tissue factor
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ISO
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protein:decreased expression:urine protein:increased expression:plasma
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RGD |
PMID:9212353 PMID:8914465 |
RGD:2313869, RGD:11060253 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
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G
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F7
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coagulation factor VII
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no_association
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IDA ISO IEP
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protein:increased activity:plasma (rat)
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RGD |
PMID:10910004 PMID:15258325 PMID:10899350 |
RGD:2312393, RGD:2312391, RGD:1598920 |
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
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G
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Fn1
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fibronectin 1
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ISO
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protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:20551625 PMID:11213886 |
RGD:7206845 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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G
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Foxp3
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forkhead box P3
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:11137993 PMID:23313429 PMID:25741868 PMID:28492532 PMID:29193502 PMID:33194927 PMID:33523441 More...
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NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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G
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Fuca1
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alpha-L-fucosidase 1
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ISO
|
protein:decreased activity:blood platelets
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RGD |
PMID:3609421 |
RGD:2315945 |
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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G
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Fxn
|
frataxin
|
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ISO
|
DNA:deletion:exon (mouse) associated with Friedrich Ataxia; DNA:repeats:intron:GAA (human)
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RGD |
PMID:12925693 PMID:8815938 |
RGD:2307048, RGD:2307047 |
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G
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G6pd
|
glucose-6-phosphate dehydrogenase
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ISO
|
protein:decreased activity:blood
|
RGD |
PMID:24865682 |
RGD:10449112 |
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801
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G
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Gad1
|
glutamate decarboxylase 1
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|
IDA
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RGD |
PMID:1924335 |
RGD:728511 |
NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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G
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Gata6
|
GATA binding protein 6
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ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:18414213 PMID:20581743 PMID:22158542 PMID:23223019 PMID:24310933 PMID:25706805 PMID:25741868 PMID:28492532 PMID:31271559 More...
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|
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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G
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Gc
|
GC, vitamin D binding protein
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ISO
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protein:increased expression:ascitic fluid
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RGD |
PMID:20054029 |
RGD:5509921 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G
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Gck
|
glucokinase
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ISO
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neonatal-onset diabetes mellitus,OMIM:606176;DNA:point mutation:exon:T228M ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar RGD |
PMID:1354782 PMID:1464666 PMID:1502186 PMID:3573714 PMID:7542040 PMID:7553875 PMID:7619052 PMID:7958490 PMID:8068341 PMID:8071309 PMID:8132752 PMID:8168652 PMID:8325892 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8897004 PMID:8933019 PMID:9000695 PMID:9049484 PMID:9075802 PMID:9078243 PMID:9435328 PMID:9472859 PMID:9536098 PMID:9662401 PMID:9713013 PMID:9736233 PMID:9867845 PMID:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10694920 PMID:10753050 PMID:10754480 PMID:10868935 PMID:11079754 PMID:11315851 PMID:11372010 PMID:11393552 PMID:11508276 PMID:11553210 PMID:11942313 PMID:12050210 PMID:12442280 PMID:12627330 PMID:12955723 PMID:14517946 PMID:14517956 PMID:14578306 PMID:15102714 PMID:15305805 PMID:15448103 PMID:15644838 PMID:15667334 PMID:15677479 PMID:15752705 PMID:15841481 PMID:15928245 PMID:16059790 PMID:16173921 PMID:16199547 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16731834 PMID:16938872 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17099250 PMID:17186219 PMID:17204055 PMID:17230658 PMID:17353190 PMID:17389332 PMID:17573900 PMID:17576681 PMID:17937063 PMID:17976205 PMID:18056790 PMID:18248649 PMID:18271687 PMID:18322640 PMID:18382660 PMID:18397317 PMID:18399931 PMID:18407139 PMID:18411240 PMID:18414213 PMID:18481947 PMID:19002431 PMID:19069349 PMID:19150152 PMID:19187021 PMID:19228875 PMID:19309449 PMID:19339519 PMID:19358091 PMID:19410318 PMID:19551638 PMID:19564454 PMID:19790256 PMID:19884385 PMID:19903754 PMID:19934346 PMID:20301620 PMID:20337973 PMID:20458967 PMID:20979768 PMID:21104275 PMID:21348868 PMID:21395678 PMID:21420961 PMID:21437567 PMID:21454584 PMID:21518409 PMID:21521320 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:21978167 PMID:22028181 PMID:22035297 PMID:22060211 PMID:22065275 PMID:22101819 PMID:22289546 PMID:22291974 PMID:22332836 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22525692 PMID:22540858 PMID:22611063 PMID:22761713 PMID:22771492 PMID:22773699 PMID:22808921 PMID:23295287 PMID:23295292 PMID:23306198 PMID:23352578 PMID:23433541 PMID:23476789 PMID:23506826 PMID:23624530 PMID:23771172 PMID:23771925 PMID:23778137 PMID:23843579 PMID:23957911 PMID:24001579 PMID:24097065 PMID:24323243 PMID:24411943 PMID:24430320 PMID:24518839 PMID:24549415 PMID:24578721 PMID:24606082 PMID:24660669 PMID:24677712 PMID:24720358 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25082184 PMID:25174781 PMID:25182307 PMID:25203462 PMID:25306193 PMID:25414397 PMID:25494859 PMID:25525159 PMID:25555642 PMID:25723349 PMID:25741868 PMID:25755231 PMID:25935773 PMID:26059258 PMID:26123671 PMID:26208450 PMID:26226118 PMID:26287533 PMID:26467025 PMID:26552609 PMID:26641800 PMID:26698632 PMID:27059371 PMID:27080136 PMID:27106716 PMID:27256595 PMID:27256596 PMID:27269892 PMID:27271189 PMID:27420379 PMID:27634015 PMID:27913849 PMID:27935851 PMID:28012402 PMID:28095440 PMID:28170077 PMID:28323911 PMID:28331372 PMID:28371533 PMID:28492532 PMID:28512030 PMID:28555465 PMID:28663157 PMID:28726111 PMID:28842611 PMID:29056535 PMID:29207974 PMID:29329106 PMID:29417725 PMID:29510678 PMID:29704611 PMID:29758564 PMID:29927023 PMID:29944009 PMID:30053375 PMID:30105470 PMID:30155490 PMID:30191644 PMID:30245511 PMID:30257192 PMID:30259503 PMID:30447144 PMID:30592380 PMID:30656436 PMID:30663027 PMID:30977832 PMID:31063852 PMID:31197960 PMID:31216263 PMID:31264968 PMID:31291970 PMID:31416898 PMID:31576961 PMID:31595705 PMID:31604004 PMID:31638168 PMID:31704690 PMID:31753287 PMID:31905448 PMID:31956423 PMID:31957151 PMID:31968686 PMID:32017842 PMID:32041611 PMID:32086287 PMID:32375122 PMID:32468610 PMID:32533152 PMID:32533685 PMID:32741144 PMID:32792356 PMID:32906206 PMID:32958805 PMID:33046911 PMID:33129248 PMID:33242514 PMID:33294763 PMID:33324081 PMID:33450726 PMID:33477506 PMID:33565752 PMID:33852230 PMID:34108472 PMID:34221822 PMID:34362814 PMID:34373539 PMID:34393998 PMID:34406393 PMID:34421822 PMID:34440516 PMID:34469064 PMID:34496959 PMID:34556497 PMID:34662886 PMID:34686905 PMID:34746319 PMID:34789499 PMID:34826540 PMID:35176401 PMID:35472491 PMID:35592779 PMID:35733065 PMID:35737141 PMID:35763601 PMID:36178555 PMID:36208030 PMID:36208343 PMID:36227502 PMID:36257325 PMID:36400171 PMID:36504295 PMID:36613572 PMID:37008541 PMID:37101203 PMID:38054414 PMID:38507882 PMID:38627865 PMID:38970407 PMID:39411314 PMID:11372010 More...
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RGD:1601295 |
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
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G
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Ggt1
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gamma-glutamyltransferase 1
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ISO
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associated with Cystic Fibrosis; protein:increased activity:plasma
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RGD |
PMID:17888134 |
RGD:2315601 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
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G
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Gh1
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growth hormone 1
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ISO
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protein:increased expression:vitreous body protein:increased secretion:plasma
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RGD |
PMID:19463895 PMID:1132599 |
RGD:2315653, RGD:2315658 |
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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G
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Gipr
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gastric inhibitory polypeptide receptor
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ISO
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human gene, mouse model
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RGD |
PMID:15582721 |
RGD:2312617 |
NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
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G
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Glis3
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GLIS family zinc finger 3
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:18414213 PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 PMID:29992946 PMID:31415576 PMID:32693112 PMID:35394098 More...
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NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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G
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Glp1r
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glucagon-like peptide 1 receptor
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TAS
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RGD |
PMID:12093887 |
RGD:625448 |
NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
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G
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Glud1
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glutamate dehydrogenase 1
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|
ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G
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Gnb3
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G protein subunit beta 3
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no_association
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ISO
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DNA:polymorphism: :multiple (human)
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RGD |
PMID:16908025 |
RGD:2313206 |
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G
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Gng3
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G protein subunit gamma 3
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603
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G
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Gpx3
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glutathione peroxidase 3
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ISO
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mRNA:decreased expression:skeletal muscle (mouse)
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RGD |
PMID:18936159 PMID:18562625 |
RGD:2312632, RGD:2312633 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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G
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Gsr
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glutathione-disulfide reductase
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ISO
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protein:decreased activity:blood:
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RGD |
PMID:22540111 |
RGD:7257584 |
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661
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G
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Gstm1
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glutathione S-transferase mu 1
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susceptibility
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ISO
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|
RGD |
PMID:16927413 |
RGD:2306632 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G
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Gstt1
|
glutathione S-transferase theta 1
|
susceptibility
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ISO
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DNA:deletion: :
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RGD |
PMID:16002077 |
RGD:5490997 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G
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Hadh
|
hydroxyacyl-CoA dehydrogenase
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|
ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:19417036 PMID:21347589 PMID:22662265 PMID:25741868 PMID:27104957 PMID:27771675 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194 More...
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NCBI chr 2:222,462,049...222,504,446
Ensembl chr 2:219,787,927...219,830,353
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G
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Hes1
|
hes family bHLH transcription factor 1
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ISO
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protein:increased expression:skin:
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RGD |
PMID:30886104 |
RGD:155646129 |
NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192
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G
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Hes5
|
hes family bHLH transcription factor 5
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IEP
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protein:increased expression:skin:
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RGD |
PMID:30886104 |
RGD:155646129 |
NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:165,522,234...165,523,001
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G
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Hey1
|
hes-related family bHLH transcription factor with YRPW motif 1
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ISO IEP
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protein:increased expression:skin:
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RGD |
PMID:30886104 PMID:30886104 |
RGD:155646129, RGD:155646129 |
NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312
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G
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Hfe
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homeostatic iron regulator
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ISO
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DNA:missense mutation: :p.C282Y (rs1800562) (human)
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RGD |
PMID:30651232 |
RGD:14746965 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G
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Hgf
|
hepatocyte growth factor
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|
ISO
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mRNA, protein:increased expression:cornea
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RGD |
PMID:16186340 |
RGD:2313569 |
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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G
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Hmgcr
|
3-hydroxy-3-methylglutaryl-CoA reductase
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|
ISO
|
|
RGD |
PMID:15476492 |
RGD:2313755 |
NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703
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G
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Hnf1a
|
HNF1 homeobox A
|
|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:1985954 PMID:2975864 PMID:7842064 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9075819 PMID:9097962 PMID:9112026 PMID:9133564 PMID:9166684 PMID:9287053 PMID:9313763 PMID:9313764 PMID:9392505 PMID:9439666 PMID:9536098 PMID:9604876 PMID:9727913 PMID:9754819 PMID:9867222 PMID:10027594 PMID:10078571 PMID:10102714 PMID:10333057 PMID:10447526 PMID:10482964 PMID:10581189 PMID:10585442 PMID:10588527 PMID:10634407 PMID:10649494 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11162430 PMID:11272211 PMID:11289470 PMID:11296231 PMID:11315828 PMID:11315851 PMID:11393552 PMID:11463573 PMID:11668618 PMID:11692182 PMID:11719843 PMID:11938027 PMID:11942313 PMID:11978663 PMID:12050210 PMID:12107757 PMID:12355088 PMID:12359128 PMID:12442280 PMID:12453420 PMID:12453976 PMID:12488961 PMID:12488962 PMID:12530534 PMID:12547858 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12646418 PMID:12675668 PMID:12882939 PMID:14598263 PMID:14747304 PMID:15031772 PMID:15114102 PMID:15277395 PMID:15305805 PMID:15522234 PMID:15649945 PMID:15657605 PMID:15726414 PMID:15761192 PMID:15841481 PMID:15883474 PMID:15928245 PMID:16046319 PMID:16186275 PMID:16199547 PMID:16223942 PMID:16249556 PMID:16274290 PMID:16496320 PMID:16562587 PMID:16602010 PMID:16917892 PMID:16930618 PMID:16963153 PMID:17033837 PMID:17054605 PMID:17116178 PMID:17192490 PMID:17407387 PMID:17425917 PMID:17440016 PMID:17496355 PMID:17573900 PMID:17576681 PMID:17601994 PMID:17700391 PMID:17924661 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18332101 PMID:18414213 PMID:18513302 PMID:18513305 PMID:18672310 PMID:18811724 PMID:18838325 PMID:19150152 PMID:19169489 PMID:19336507 PMID:19339519 PMID:19754856 PMID:19929997 PMID:20132997 PMID:20393147 PMID:20705777 PMID:20981092 PMID:21051477 PMID:21168233 PMID:21170474 PMID:21224407 PMID:21236713 PMID:21242637 PMID:21395678 PMID:21518407 PMID:21628466 PMID:21648289 PMID:21683639 PMID:21696527 PMID:21761282 PMID:21823540 PMID:22060211 PMID:22341299 PMID:22348187 PMID:22413961 PMID:22432108 PMID:22432796 PMID:22802087 PMID:22808921 PMID:23139355 PMID:23274891 PMID:23348805 PMID:23517481 PMID:23548576 PMID:23551881 PMID:23607861 PMID:23610083 PMID:23624530 PMID:23674172 PMID:23771925 PMID:23803251 PMID:24014008 PMID:24033266 PMID:24041679 PMID:24069322 PMID:24097065 PMID:24323243 PMID:24698406 PMID:24728327 PMID:24905847 PMID:24915262 PMID:25174781 PMID:25306193 PMID:25411618 PMID:25414397 PMID:25483937 PMID:25525159 PMID:25555642 PMID:25575005 PMID:25741868 PMID:25837654 PMID:25887915 PMID:25935773 PMID:26059258 PMID:26110317 PMID:26287533 PMID:26431509 PMID:26446475 PMID:26467025 PMID:26479152 PMID:26817999 PMID:26853433 PMID:26997508 PMID:27059371 PMID:27080136 PMID:27083284 PMID:27148439 PMID:27229139 PMID:27271189 PMID:27398945 PMID:27458973 PMID:27486234 PMID:27899486 PMID:27913849 PMID:28012402 PMID:28105082 PMID:28170077 PMID:28395978 PMID:28410371 PMID:28492532 PMID:28597946 PMID:28701371 PMID:28862987 PMID:28938416 PMID:29179779 PMID:29207974 PMID:29334895 PMID:29376044 PMID:29417725 PMID:29439679 PMID:29493090 PMID:29666556 PMID:29758564 PMID:29777474 PMID:29844095 PMID:29895593 PMID:29927023 PMID:30121369 PMID:30155490 PMID:30181854 PMID:30191644 PMID:30202817 PMID:30229274 PMID:30293189 PMID:30455330 PMID:30487145 PMID:30507613 PMID:30561130 PMID:30586318 PMID:30663027 PMID:30814848 PMID:31109344 PMID:31166087 PMID:31264968 PMID:31291970 PMID:31363388 PMID:31365591 PMID:31385057 PMID:31419515 PMID:31447099 PMID:31483937 PMID:31485449 PMID:31517624 PMID:31566143 PMID:31576961 PMID:31604004 PMID:31638168 PMID:31658956 PMID:31675503 PMID:31754975 PMID:31844173 PMID:31968565 PMID:31968686 PMID:32017842 PMID:32041611 PMID:32238361 PMID:32355288 PMID:32395877 PMID:32684311 PMID:32741144 PMID:32910913 PMID:33046911 PMID:33216280 PMID:33242514 PMID:33245425 PMID:33324081 PMID:33363396 PMID:33459938 PMID:33477506 PMID:33538814 PMID:33651556 PMID:33889819 PMID:33950347 PMID:34035238 PMID:34108472 PMID:34161864 PMID:34202200 PMID:34373539 PMID:34440499 PMID:34458657 PMID:34462253 PMID:34496959 PMID:34556497 PMID:34741762 PMID:34746319 PMID:34789499 PMID:35089870 PMID:35218126 PMID:35257744 PMID:35328643 PMID:35460704 PMID:35472491 PMID:35673428 PMID:35733065 PMID:35846334 PMID:36189138 PMID:36208030 PMID:36208343 PMID:36216889 PMID:36257325 PMID:36407475 PMID:36504295 PMID:36613572 PMID:37396188 PMID:37492105 PMID:37798422 More...
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NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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G
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Hnf1b
|
HNF1 homeobox B
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
|
ClinVar |
PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 PMID:21775974 PMID:22114815 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24429398 PMID:24897035 PMID:25536396 PMID:25700310 PMID:25741167 PMID:25741868 PMID:26340261 PMID:26467025 PMID:26899772 PMID:27615128 PMID:28215227 PMID:28492532 PMID:30259503 PMID:33434175 More...
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G
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Hnf4a
|
hepatocyte nuclear factor 4, alpha
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ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:193395 PMID:8945471 PMID:9243109 PMID:9267996 PMID:9294105 PMID:9313765 PMID:9371825 PMID:9449683 PMID:10227563 PMID:10331424 PMID:10389854 PMID:10606640 PMID:10768098 PMID:10819248 PMID:10905494 PMID:10983627 PMID:11043869 PMID:11232004 PMID:11272211 PMID:11435618 PMID:11575290 PMID:12050210 PMID:12110948 PMID:12193589 PMID:12203996 PMID:12220494 PMID:12235114 PMID:12413008 PMID:12627330 PMID:12669197 PMID:15111529 PMID:15123688 PMID:15728204 PMID:15761495 PMID:15826954 PMID:15830177 PMID:16199547 PMID:16223942 PMID:16602010 PMID:16640558 PMID:16883527 PMID:16917892 PMID:16946562 PMID:17389749 PMID:17407387 PMID:17563455 PMID:18268044 PMID:18356407 PMID:18414213 PMID:18811724 PMID:18829458 PMID:19478207 PMID:20132997 PMID:20164212 PMID:20705777 PMID:21062274 PMID:21105491 PMID:21323639 PMID:21353246 PMID:21683639 PMID:21922456 PMID:22060211 PMID:22308320 PMID:22662265 PMID:22802087 PMID:23227446 PMID:23247789 PMID:23275527 PMID:23348805 PMID:23485969 PMID:23551881 PMID:23771925 PMID:23803251 PMID:24033266 PMID:24097065 PMID:24285859 PMID:24947580 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25741868 PMID:25819479 PMID:25905084 PMID:26059258 PMID:26446475 PMID:26467025 PMID:26552609 PMID:26971647 PMID:26981542 PMID:27080136 PMID:27245055 PMID:27420379 PMID:27486234 PMID:27552834 PMID:27810688 PMID:27884173 PMID:27913849 PMID:28242437 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28701371 PMID:28844315 PMID:28862987 PMID:29207974 PMID:29355436 PMID:29417725 PMID:29493090 PMID:29758564 PMID:29998026 PMID:30005691 PMID:30026763 PMID:30191603 PMID:30191644 PMID:30293189 PMID:30325586 PMID:30447144 PMID:30648609 PMID:30663027 PMID:30665703 PMID:30977832 PMID:31264968 PMID:31291970 PMID:31523701 PMID:31529154 PMID:31529156 PMID:31578528 PMID:31595705 PMID:31704690 PMID:31825128 PMID:31875549 PMID:31957151 PMID:31968686 PMID:32041611 PMID:32170320 PMID:32418360 PMID:32533152 PMID:32583173 PMID:33770274 PMID:33846082 PMID:34373539 PMID:34440499 PMID:34556497 PMID:34789499 PMID:34805411 PMID:35052457 PMID:35089870 PMID:35112188 PMID:35118593 PMID:35256061 PMID:35737141 PMID:36208030 PMID:36227502 PMID:36257325 PMID:36504295 PMID:37812285 More...
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NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
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G
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Hp
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haptoglobin
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ISO
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RGD |
PMID:12540619 |
RGD:1626347 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G
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Htra1
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HtrA serine peptidase 1
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ISO
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associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human)
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RGD |
PMID:27411924 |
RGD:152975631 |
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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G
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Ica1
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islet cell autoantigen 1
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IDA
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RGD |
PMID:7918678 |
RGD:633043 |
NCBI chr 4:36,656,475...36,804,705
Ensembl chr 4:36,656,475...36,804,298
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G
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Icam1
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intercellular adhesion molecule 1
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ISO
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protein:increased expression:serum
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RGD |
PMID:19394054 |
RGD:2313467 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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G
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Igf1
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insulin-like growth factor 1
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ISO
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mRNA,protein:decreased expression:corpus cavernosum:
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RGD |
PMID:22133301 |
RGD:10046054 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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G
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Igf1r
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insulin-like growth factor 1 receptor
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ISO
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associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)
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RGD |
PMID:16642022 PMID:27411924 |
RGD:2311506, RGD:152975631 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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G
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Il10
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interleukin 10
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ISO
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RGD |
PMID:22802947 |
RGD:7364853 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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G
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Il2ra
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interleukin 2 receptor subunit alpha
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IMP
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RGD |
PMID:18503494 |
RGD:2311530 |
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
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G
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Il33
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interleukin 33
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IEP
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protein:increased expression:serum,ovary
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RGD |
PMID:28412870 |
RGD:40400904 |
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373
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G
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Il6
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interleukin 6
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susceptibility
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ISO
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protein:increased expression:extracellular space (human) mRNA:decreased expression:dendritic cell (mouse) associated with Dementia; protein:increased expression:brain (human) DNA:polymorphism:promoter:-174G>C (human)
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RGD |
PMID:19442860 PMID:19120268 PMID:19139294 PMID:18689695 |
RGD:2307180, RGD:2307278, RGD:2307273, RGD:2307293 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G
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Ins1
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insulin 1
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20226046 PMID:20938745 PMID:20948967 PMID:22957706 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26641800 PMID:28492532 PMID:34789499 More...
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NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
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Ins2
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insulin 2
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ISO
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DNA, protein:missense mutations, altered processing:exons, endoplasmic reticulum:multiple ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes CTD Direct Evidence: marker/mechanism CTD Direct Evidence: marker/mechanism|therapeutic DNA, protein:missense mutations:exons:multiple protein:altered localization :endoplasmic reticulum DNA:point mutation (mouse)
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ClinVar CTD RGD |
PMID:2055425 PMID:7294224 PMID:7624867 PMID:8400068 PMID:11446671 PMID:11921414 PMID:15628829 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:19775285 PMID:20007936 PMID:20133622 PMID:20226046 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22957706 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26641800 PMID:28492532 PMID:32252216 PMID:33852861 PMID:34584998 PMID:34789499 PMID:18451997 PMID:17855560 PMID:20034470 PMID:16799061 PMID:19537357 More...
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RGD:2317262, RGD:2317259, RGD:2317260, RGD:2311115, RGD:2311109 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Insr
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insulin receptor
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ISO
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DNA:deletions, missense mutation:multiple (human) ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar RGD |
PMID:2040394 PMID:2211730 PMID:2983222 PMID:8257688 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:23705494 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 PMID:18925540 More...
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RGD:2307343 |
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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G
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Irs1
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insulin receptor substrate 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:10591678 |
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NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
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G
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Itga2
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integrin subunit alpha 2
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ISO
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protein:increased expression:monocyte (human)
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RGD |
PMID:17466965 |
RGD:2307424 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G
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Itpr1
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inositol 1,4,5-trisphosphate receptor, type 1
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susceptibility
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ISO
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DNA:deletion:exon:p.Q1715_R1731del (mouse)
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RGD |
PMID:21565852 |
RGD:6480678 |
NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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G
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Kcnj11
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potassium inwardly-rectifying channel, subfamily J, member 11
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ISO
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DNA:mutation: :p.V59M (mouse) ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes Diabetes Mellitus, permanent neonatal, OMIM:606176
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ClinVar RGD |
PMID:2270156 PMID:2462236 PMID:8897013 PMID:9831713 PMID:10049691 PMID:10338089 PMID:12213829 PMID:12524280 PMID:14715863 PMID:15115830 PMID:15292329 PMID:15448107 PMID:15504982 PMID:15561897 PMID:15562009 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15807877 PMID:16123337 PMID:16268330 PMID:16357843 PMID:16609879 PMID:16636122 PMID:16731833 PMID:16731837 PMID:16885550 PMID:17021801 PMID:17296510 PMID:17327377 PMID:17446535 PMID:17490422 PMID:17635943 PMID:17673911 PMID:17919178 PMID:18250167 PMID:18414213 PMID:18436707 PMID:18559200 PMID:18767144 PMID:20301620 PMID:20685672 PMID:21115269 PMID:21119644 PMID:21352428 PMID:21544516 PMID:21682153 PMID:22471336 PMID:22619292 PMID:22701567 PMID:22749773 PMID:22768671 PMID:23275527 PMID:23345197 PMID:23462667 PMID:23667671 PMID:24421282 PMID:24622368 PMID:24686051 PMID:25247988 PMID:25555642 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26509005 PMID:26839896 PMID:26958039 PMID:27033559 PMID:27681997 PMID:27908292 PMID:28270372 PMID:28347637 PMID:28350539 PMID:28492532 PMID:28587604 PMID:28766502 PMID:28787272 PMID:28925365 PMID:31218401 PMID:31291970 PMID:32027066 PMID:32101525 PMID:32418263 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33046911 PMID:33324081 PMID:33409956 PMID:33538814 PMID:33852230 PMID:34566892 PMID:35114785 PMID:35612844 PMID:37664823 PMID:19065048 PMID:15292329 PMID:16416420 More...
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RGD:2311536, RGD:1625256, RGD:1625279 |
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Kif1a
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kinesin family member 1A
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23776493 |
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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G
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Kif5b
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kinesin family member 5B
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23776493 |
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NCBI chr17:51,489,904...51,527,508
Ensembl chr17:51,489,944...51,527,508
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G
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Klf11
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KLF transcription factor 11
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:15774581 PMID:17130512 PMID:18414213 PMID:18593768 PMID:19122346 PMID:19843526 PMID:25741868 PMID:28492532 PMID:33538814 More...
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NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
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G
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Lep
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leptin
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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G
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Lepr
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leptin receptor
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Monogenic diabetes
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CTD ClinVar |
PMID:15028607 PMID:21393862 PMID:23760429 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31237021 PMID:33660144 PMID:34097736 More...
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NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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G
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Lmna
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lamin A/C
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:2007407 PMID:2270059 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11792809 PMID:12057196 PMID:12524233 PMID:12647844 PMID:12927424 PMID:15060110 PMID:15219508 PMID:15770669 PMID:16181372 PMID:16364671 PMID:16415042 PMID:16585054 PMID:17377071 PMID:17893350 PMID:18035086 PMID:18478590 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19418082 PMID:19589617 PMID:19859838 PMID:19875404 PMID:20074070 PMID:20130076 PMID:20301609 PMID:20301717 PMID:20497714 PMID:20625965 PMID:20848652 PMID:21535365 PMID:21831885 PMID:21980471 PMID:22177269 PMID:22199124 PMID:22276265 PMID:22355414 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23183350 PMID:23313286 PMID:23349452 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24033266 PMID:24080738 PMID:24375749 PMID:24503780 PMID:24623722 PMID:25025039 PMID:25163546 PMID:25637381 PMID:25741868 PMID:25873806 PMID:26467025 PMID:26498160 PMID:26662654 PMID:27000522 PMID:27153395 PMID:27447704 PMID:27532257 PMID:27813223 PMID:27896284 PMID:28087566 PMID:28492532 PMID:28518168 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28686329 PMID:28701371 PMID:28790152 PMID:28807990 PMID:29237675 PMID:29551499 PMID:29952368 PMID:30165155 PMID:30287275 PMID:30420677 PMID:31019283 PMID:31194872 PMID:31383942 PMID:31447099 PMID:31521807 PMID:31744510 PMID:31794942 PMID:31836692 PMID:32041611 PMID:32413188 PMID:32461654 PMID:32517491 PMID:32818388 PMID:32913962 PMID:32939435 PMID:33407844 PMID:33502018 PMID:33803652 PMID:34340952 PMID:34862408 PMID:34865644 PMID:35291351 PMID:35384599 PMID:35898701 PMID:36293084 PMID:36397776 PMID:37679847 PMID:38374194 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G
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Lrp1
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LDL receptor related protein 1
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treatment
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IDA
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RGD |
PMID:22889684 |
RGD:13800521 |
NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:63,380,356...63,460,910
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G
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Mafa
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MAF bZIP transcription factor A
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treatment
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IEP
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RGD |
PMID:23801580 |
RGD:13506744 |
NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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G
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Map3k5
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mitogen-activated protein kinase kinase kinase 5
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16731828 |
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NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:14,685,492...14,904,800
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G
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Marco
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macrophage receptor with collagenous structure
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ISO
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protein:decreased expression:Alveolar macrophage
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RGD |
PMID:27630197 |
RGD:41412199 |
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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G
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Mc4r
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melanocortin 4 receptor
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:8392067 PMID:9267995 PMID:10078568 PMID:10199800 PMID:10585465 PMID:10592235 PMID:10903341 PMID:11487744 PMID:12032748 PMID:12364414 PMID:12364415 PMID:12499395 PMID:12629567 PMID:12646665 PMID:12646666 PMID:12690102 PMID:12970296 PMID:14764812 PMID:14764818 PMID:14973783 PMID:15037865 PMID:15486053 PMID:15585384 PMID:15805150 PMID:15975705 PMID:16030156 PMID:16032553 PMID:16094248 PMID:16274851 PMID:16469222 PMID:16492696 PMID:16507637 PMID:16611215 PMID:16614075 PMID:16752916 PMID:16886960 PMID:17185898 PMID:17286227 PMID:17306938 PMID:17356525 PMID:17418015 PMID:17517246 PMID:17519222 PMID:17579204 PMID:17587397 PMID:17628007 PMID:17986382 PMID:18559663 PMID:19091795 PMID:19179454 PMID:19184404 PMID:19696756 PMID:20462274 PMID:22106157 PMID:22447289 PMID:22492873 PMID:22822657 PMID:23146882 PMID:23251400 PMID:23505181 PMID:23791567 PMID:24611737 PMID:24890885 PMID:25332687 PMID:25741868 PMID:25741869 PMID:26467025 PMID:26788538 PMID:27654141 PMID:28492532 PMID:29679223 PMID:29970488 PMID:30068297 PMID:30586318 PMID:31002796 PMID:31947684 PMID:32916307 PMID:32952152 PMID:36775011 PMID:38528040 PMID:154889963 More...
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NCBI chr18:62,689,798...62,691,685
Ensembl chr18:60,419,832...60,421,719
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G
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Mir142
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microRNA 142
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ISO
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RNA:increased expression:blood:
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RGD |
PMID:32544883 |
RGD:243065126 |
NCBI chr10:73,055,104...73,055,190
Ensembl chr10:72,557,857...72,557,967
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G
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Mir145
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microRNA 145
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IEP
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miRNA:decreased expression:blood plasma (rat)
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RGD |
PMID:28051023 |
RGD:155260283 |
NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727
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G
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Mir221
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microRNA 221
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IEP
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RNA:increased expression:mandible
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RGD |
PMID:32194220 |
RGD:152025220 |
NCBI chr X:6,023,182...6,023,290
Ensembl chr X:3,429,465...3,429,573
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G
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Mir222
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microRNA 222
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IEP
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RNA:increased expression:mandible
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RGD |
PMID:32194220 |
RGD:152025220 |
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:3,428,904...3,429,006
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G
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Mir223
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microRNA 223
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ISO
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RNA:decreased expression:blood mononuclear cell
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RGD |
PMID:26717922 |
RGD:14398486 |
NCBI chr X:65,151,383...65,151,492
Ensembl chr X:61,141,887...61,141,996
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G
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Mir29a
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microRNA 29a
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exacerbates
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ISO IDA
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RNA:increased expression:blood: RNA:increased expression:sciatic nerve:
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RGD |
PMID:32544883 PMID:32544883 |
RGD:243065126, RGD:243065126 |
NCBI chr 4:60,617,955...60,618,042
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G
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Mir9
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microRNA 9
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exacerbates
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IDA
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RNA:increased expression:sciatic nerve:
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RGD |
PMID:32544883 |
RGD:243065126 |
NCBI chr 9:1,080,274...1,080,383
Ensembl chr 9:1,080,274...1,080,383
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G
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Mmp10
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matrix metallopeptidase 10
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ISO
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RGD |
PMID:11159210 |
RGD:8693313 |
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G
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Mmp3
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matrix metallopeptidase 3
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ISO
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mRNA:increased expression:retina
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RGD |
PMID:11159210 |
RGD:8693313 |
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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G
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Mt-atp6
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mitochondrially encoded ATP synthase membrane subunit 6
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:18273840 |
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NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G
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Mt-nd4l
|
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
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ISO
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DNA:deletion: :m.8213_13992 (human)
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RGD |
PMID:7603516 |
RGD:5686343 |
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G
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Mt2
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metallothionein 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:27122239 |
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NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784
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G
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Mthfr
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methylenetetrahydrofolate reductase
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no_association
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ISO
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DNA:transition:cds:g.677C>T (human)
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RGD |
PMID:9607212 |
RGD:38501049 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G
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Nat2
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N-acetyltransferase 2
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ISO
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DNA:polymorphism
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RGD |
PMID:16397907 |
RGD:2311597 |
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
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G
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Ncf1
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neutrophil cytosolic factor 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23723366 |
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NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646
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G
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Neurod1
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neuronal differentiation 1
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:12639765 PMID:18414213 PMID:25741868 PMID:27420379 PMID:28492532 PMID:30259503 More...
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NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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G
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Nppb
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natriuretic peptide B
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onset
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ISO
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RGD |
PMID:23733199 |
RGD:7246907 |
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
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G
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Nr0b2
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nuclear receptor subfamily 0, group B, member 2
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IEP
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mRNA:increased expression:pancreatic islet
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RGD |
PMID:17259388 |
RGD:2311606 |
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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G
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Nr1i2
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nuclear receptor subfamily 1, group I, member 2
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|
ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20869355 |
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NCBI chr11:75,965,717...76,006,733
Ensembl chr11:62,460,213...62,496,658
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G
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Nr1i3
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nuclear receptor subfamily 1, group I, member 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20869355 |
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NCBI chr13:86,165,327...86,170,362
Ensembl chr13:83,632,899...83,637,906
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G
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Pax4
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paired box 4
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|
ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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G
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Pdx1
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pancreatic and duodenal homeobox 1
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ISO
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mRNA, decreased expression:pancreatic islet (mouse) ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar RGD |
PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 PMID:11315851 PMID:11772903 PMID:11914043 PMID:11978663 PMID:12099699 PMID:12618559 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15170499 PMID:15277425 PMID:15754742 PMID:16092045 PMID:16741735 PMID:17126328 PMID:17592437 PMID:19228875 PMID:19515026 PMID:21569088 PMID:24097065 PMID:24464100 PMID:25041077 PMID:25741868 PMID:26058934 PMID:26287533 PMID:26467025 PMID:27535533 PMID:27879211 PMID:27884173 PMID:28095440 PMID:28492532 PMID:28609558 PMID:29439679 PMID:30709774 PMID:30930126 PMID:31264968 PMID:34988346 PMID:18682608 More...
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RGD:2308812 |
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G
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Plin1
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perilipin 1
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|
ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
|
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:143,073,612...143,086,199
Ensembl chr 1:133,664,892...133,676,828
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G
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Pmm2
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phosphomannomutase 2
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|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus
|
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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G
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Pomc
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proopiomelanocortin
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19153526 |
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NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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G
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Pon1
|
paraoxonase 1
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16229851 PMID:19022366 |
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NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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G
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Ppara
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peroxisome proliferator activated receptor alpha
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ISS
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MouseDO |
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NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
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G
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Pparg
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peroxisome proliferator-activated receptor gamma
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|
ISO
|
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Monogenic diabetes
|
CTD ClinVar |
PMID:16168052 PMID:19748282 PMID:25741868 PMID:27749844 PMID:28492532 |
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NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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G
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Ppp1r3a
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protein phosphatase 1, regulatory subunit 3A
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|
ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
|
ClinVar |
PMID:12118251 PMID:25741868 PMID:28492532 |
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NCBI chr 4:43,905,648...43,946,236
Ensembl chr 4:42,939,599...42,980,638
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G
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Prom1
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prominin 1
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IDA
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|
RGD |
PMID:11237753 |
RGD:68837 |
NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527
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G
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Pten
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phosphatase and tensin homolog
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IEP
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protein:increased expression, increased phosphorylation:inferior vena cava
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RGD |
PMID:16961925 |
RGD:2292543 |
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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G
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Ptf1a
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pancreas associated transcription factor 1a
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|
ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
|
ClinVar |
PMID:25741868 PMID:25775927 PMID:28492532 |
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NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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|
G
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Ptgs2
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prostaglandin-endoperoxide synthase 2
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:15885672 PMID:15885672 |
RGD:5143927 |
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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G
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Ptpn1
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protein tyrosine phosphatase, non-receptor type 1
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|
ISO
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protein:increased expression:skin of forearm (human)
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RGD |
PMID:22688339 |
RGD:8547813 |
NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:156,638,769...156,687,504
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|
G
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Ptpn22
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protein tyrosine phosphatase, non-receptor type 22
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|
ISO
|
DNA: snp: cds: C1858T
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RGD |
PMID:18764813 |
RGD:6484729 |
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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|
G
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Ptprd
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protein tyrosine phosphatase, receptor type, D
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disease_progression
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ISO
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DNA:SNP:intron: (rs17584499) (human)
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RGD |
PMID:21767287 |
RGD:401976426 |
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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|
G
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Rac1
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Rac family small GTPase 1
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23723366 |
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NCBI chr12:16,150,411...16,170,864
Ensembl chr12:11,036,698...11,057,251
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G
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Rfx6
|
regulatory factor X, 6
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|
ISO
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ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:15592663 PMID:18414213 PMID:20148032 PMID:25741868 PMID:28492532 PMID:29026101 More...
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NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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G
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Serpina7
|
serpin family A member 7
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|
ISO
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|
RGD |
PMID:8742570 |
RGD:2312329 |
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
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G
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Serpine1
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serpin family E member 1
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treatment
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IDA
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|
RGD |
PMID:10910004 |
RGD:2312393 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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G
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Shbg
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sex hormone binding globulin
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|
ISO
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protein:increased expression:plasma
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RGD |
PMID:18346991 |
RGD:2313784 |
NCBI chr10:54,831,716...54,849,162
Ensembl chr10:54,332,941...54,351,057
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G
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Shld2
|
shieldin complex subunit 2
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|
ISO
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ClinVar Annotator: match by term: Monogenic diabetes
|
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
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G
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Sim1
|
SIM bHLH transcription factor 1
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|
ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar |
PMID:2152513 PMID:16924270 PMID:21512513 PMID:23778136 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532 More...
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NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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|
G
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Sirt1
|
sirtuin 1
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24894401 |
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NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
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G
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Slc19a2
|
solute carrier family 19 member 2
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|
ISO
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ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:10391221 |
RGD:1599325 |
NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
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G
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Slc22a12
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solute carrier family 22 member 12
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IEP
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protein:decreased expression:kidney
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RGD |
PMID:28679589 |
RGD:13439745 |
NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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G
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Slc2a1
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solute carrier family 2 member 1
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|
ISO
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RGD |
PMID:10022440 |
RGD:12879500 |
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
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|
G
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Slc2a2
|
solute carrier family 2 member 2
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|
ISO
|
ClinVar Annotator: match by term: Monogenic diabetes
|
ClinVar |
PMID:8027028 PMID:8063045 PMID:11810292 PMID:23986439 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:111,611,774...111,639,933
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G
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Slc2a3
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solute carrier family 2 member 3
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|
ISO
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RGD |
PMID:10086067 |
RGD:2313619 |
NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472
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G
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Socs1
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suppressor of cytokine signaling 1
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ameliorates
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ISO
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|
RGD |
PMID:15100317 |
RGD:151232286 |
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383
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G
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Sod1
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superoxide dismutase 1
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23786522 |
|
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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G
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Sod3
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superoxide dismutase 3
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|
ISO
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|
RGD |
PMID:12830380 |
RGD:1581299 |
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
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G
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Spink1
|
serine peptidase inhibitor, Kazal type 1
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|
ISO
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ClinVar Annotator: match by term: Diabetes mellitus
|
ClinVar |
PMID:10835640 PMID:15980664 PMID:16849362 PMID:18978175 PMID:23017645 PMID:23741238 PMID:24909264 PMID:25741868 PMID:25927356 PMID:26632706 PMID:26719302 PMID:27578509 PMID:28492532 PMID:29521951 PMID:31401021 More...
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NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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|
G
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Srd5a2
|
steroid 5 alpha-reductase 2
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|
IEP
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|
RGD |
PMID:12749121 |
RGD:1600067 |
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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|
G
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Tcf7l2
|
transcription factor 7 like 2
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|
ISO
|
associated with Cystic Fibrosis;DNA:SNP (human)
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RGD |
PMID:19585101 |
RGD:2312417 |
NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967
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G
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Tfpi
|
tissue factor pathway inhibitor
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|
ISO
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protein:increased expression:plasma:
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RGD |
PMID:8914465 |
RGD:11060253 |
NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880
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G
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Tgfb1
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transforming growth factor, beta 1
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|
ISO
|
associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)
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RGD |
PMID:27411924 |
RGD:152975631 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G
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Thbs2
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thrombospondin 2
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23723366 |
|
NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789
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|
G
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Timp1
|
TIMP metallopeptidase inhibitor 1
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|
ISO
|
protein:decreased expression:glomerulus
|
RGD |
PMID:19506087 |
RGD:2312464 |
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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G
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Tlr4
|
toll-like receptor 4
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|
ISO
|
protein:increased expression:monocyte
|
RGD |
PMID:19210958 PMID:15632890 |
RGD:2312485, RGD:1580736 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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G
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Tnfrsf8
|
TNF receptor superfamily member 8
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|
ISO
|
|
RGD |
PMID:10192335 |
RGD:2312735 |
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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|
G
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Ucp3
|
uncoupling protein 3
|
|
ISO
|
|
RGD |
PMID:17587402 |
RGD:2313514 |
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
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G
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Vdr
|
vitamin D receptor
|
no_association
|
ISO
|
DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)
|
RGD |
PMID:22856230 |
RGD:8158070 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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G
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Vim
|
vimentin
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|
ISO
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associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)
|
RGD |
PMID:27411924 |
RGD:152975631 |
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187
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G
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Vwf
|
von Willebrand factor
|
treatment
|
ISO
|
|
RGD |
PMID:19722571 |
RGD:7207029 |
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
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|
G
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Wfs1
|
wolframin ER transmembrane glycoprotein
|
onset
|
ISO IMP
|
DNA:missense mutations:cds:p.R456H, p.R611H (rs1801206, rs1801214) (human) ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
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ClinVar RGD |
PMID:3126496 PMID:3442652 PMID:3478949 PMID:10521293 PMID:10624825 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12565131 PMID:12707373 PMID:12754709 PMID:12782971 PMID:12913071 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:17492394 PMID:17568405 PMID:17603484 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19344068 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22238590 PMID:22797899 PMID:23429432 PMID:23595122 PMID:23596069 PMID:23981289 PMID:24033266 PMID:24497219 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 PMID:25497598 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27395765 PMID:27468121 PMID:27617222 PMID:28432734 PMID:28492532 PMID:28502252 PMID:28559085 PMID:29207974 PMID:29529044 PMID:29549887 PMID:29563951 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31343797 PMID:31391115 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31638168 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32179840 PMID:32483926 PMID:33046911 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:34258273 PMID:34404380 PMID:34426522 PMID:34573359 PMID:34746052 PMID:34789499 PMID:35018440 PMID:35452662 PMID:35469785 PMID:35472603 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36597107 PMID:36729443 PMID:36938085 PMID:37277527 PMID:23595122 PMID:28860598 More...
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RGD:8694404, RGD:149735331 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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Wfs1em1Ptsn
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wolframin ER transmembrane glycoprotein; ZFN induced mutant 1
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onset
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IMP
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RGD |
PMID:28860598 |
RGD:149735331 |
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G
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Zfp57
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zinc finger protein 57
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ISO
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ClinVar Annotator: match by term: Monogenic diabetes CTD Direct Evidence: marker/mechanism
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ClinVar CTD |
PMID:18414213 PMID:18622393 PMID:23748067 PMID:25741868 PMID:28492532 PMID:30315371 PMID:31064016 More...
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NCBI chr20:1,526,565...1,546,480
Ensembl chr20:1,521,323...1,529,846
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G
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Cdk13
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cyclin-dependent kinase 13
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ISO
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ClinVar Annotator: match by term: Wolfram-like disorder
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ClinVar |
PMID:25741868 PMID:28492532 PMID:33879837 |
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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G
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Wfs1
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wolframin ER transmembrane glycoprotein
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ISO
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ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12707373 PMID:12754709 PMID:12913071 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22781099 PMID:23373429 PMID:23429432 PMID:23596069 PMID:23981289 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27045389 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28974383 PMID:29207974 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33098801 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34837038 PMID:34997062 PMID:35018440 PMID:35206658 PMID:35469785 PMID:35472603 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37108562 PMID:37277527 PMID:37337769 PMID:37415600 PMID:37508961 PMID:37510321 PMID:37719678 PMID:38219857 PMID:38400873 More...
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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A2m
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alpha-2-macroglobulin
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treatment
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ISO
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RGD |
PMID:10848441 |
RGD:10046010 |
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
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G
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Cat
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catalase
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ISO
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associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:
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RGD |
PMID:24092995 |
RGD:9068931 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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G
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Flt1
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Fms related receptor tyrosine kinase 1
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ISO
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protein:decreased expression:aqueous humor:
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RGD |
PMID:23853629 |
RGD:10402120 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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G
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Map3k8
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mitogen-activated protein kinase kinase kinase 8
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ISO
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protein:increased activity:serum:
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RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216
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G
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Pdgfb
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platelet derived growth factor subunit B
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ISO
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protein:decreased expression:vitreous:
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RGD |
PMID:19799585 |
RGD:10449447 |
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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G
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Dut
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deoxyuridine triphosphatase
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ISO
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ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome
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OMIM ClinVar |
PMID:9548420 PMID:25741868 PMID:28073829 PMID:35611808 PMID:35931051 |
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NCBI chr 3:132,952,258...132,963,433
Ensembl chr 3:112,498,982...112,510,771
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G
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Rnf135
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ring finger protein 135
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
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CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr10:65,668,441...65,687,671
Ensembl chr10:65,170,560...65,262,804
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G
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Lrrc32
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leucine rich repeat containing 32
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ISO
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ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay
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OMIM ClinVar |
PMID:25741868 PMID:30976112 |
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NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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G
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Dnajc3
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DnaJ heat shock protein family (Hsp40) member C3
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ISO
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ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | ClinVar Annotator: match by term: DNAJC3-related condition
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OMIM ClinVar |
PMID:25466870 PMID:25741868 PMID:28492532 PMID:28940199 PMID:32738013 PMID:33486469 More...
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NCBI chr15:102,432,667...102,475,643
Ensembl chr15:96,025,624...96,065,181
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G
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Dnajc6
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DnaJ heat shock protein family (Hsp40) member C6
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ISO
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ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
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ClinVar |
PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 |
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NCBI chr 5:121,232,532...121,398,775
Ensembl chr 5:116,119,676...116,283,448
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G
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Mafa
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MAF bZIP transcription factor A
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ISO
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ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
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ClinVar |
PMID:25741868 |
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NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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G
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Kcnj11
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potassium inwardly-rectifying channel, subfamily J, member 11
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ISO
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ClinVar Annotator: match by term: DEND syndrome
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ClinVar |
PMID:15580558 PMID:15718250 PMID:25741868 PMID:26448950 |
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Abcc4
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ATP binding cassette subfamily C member 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:29382564 |
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NCBI chr15:101,948,387...102,182,912
Ensembl chr15:95,542,315...95,774,283
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G
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Akr1b1
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aldo-keto reductase family 1 member B1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:25304492 PMID:25541468 |
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NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
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G
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Aldh2
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aldehyde dehydrogenase 2 family member
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:23500772 |
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NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
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G
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Bdkrb1
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bradykinin receptor B1
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ISO
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RGD |
PMID:20479236 |
RGD:7241550 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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G
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Bdkrb2
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bradykinin receptor B2
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ISO
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RGD |
PMID:20479236 |
RGD:7241550 |
NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497
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G
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Casp9
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caspase 9
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treatment
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IEP
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associated with Diabetes Mellitus, Experimental
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RGD |
PMID:24252320 |
RGD:13782355 |
Ensembl chr 5:154,109,046...154,126,626
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G
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Cyp2c11
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cytochrome P450, subfamily 2, polypeptide 11
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ISO
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RGD |
PMID:15963101 |
RGD:2307154 |
NCBI chr 1:246,175,216...246,211,445
Ensembl chr 1:236,762,842...236,799,066
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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ISO
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Associated with obesity
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RGD |
PMID:21282363 |
RGD:6906933 |
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715
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G
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Ghrl
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ghrelin and obestatin prepropeptide
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ISO
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protein: decreased expression: serum
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RGD |
PMID:18025762 |
RGD:7242563 |
NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
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G
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Glo1
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glyoxalase 1
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no_association
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ISO
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DNA:SNP: :419C>A (human)
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RGD |
PMID:21738003 |
RGD:7242569 |
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
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G
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Hdac4
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histone deacetylase 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:35554780 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G
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Hif1a
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hypoxia inducible factor 1 subunit alpha
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:26073000 |
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NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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G
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Hp
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haptoglobin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:19769483 |
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G
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Mir126a
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microRNA 126a
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ISO
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associated with type 1 diabetes mellitus;
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RGD |
PMID:27696070 |
RGD:401850786 |
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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G
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Mir140
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microRNA 140
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:32062618 |
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NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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G
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Mir26a
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microRNA 26a
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:35554780 |
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NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
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G
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Muc1
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mucin 1, cell surface associated
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IEP
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associated with Diabetes Mellitus, Experimental
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RGD |
PMID:23977093 |
RGD:7349380 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G
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Nr0b2
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nuclear receptor subfamily 0, group B, member 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:29382564 |
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NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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G
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Pln
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phospholamban
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IEP
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associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm
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RGD |
PMID:23443767 |
RGD:7327179 |
NCBI chr20:33,166,512...33,182,241
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G
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Pon1
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paraoxonase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:19003935 |
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NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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G
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Prkaa1
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protein kinase AMP-activated catalytic subunit alpha 1
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IDA
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associated with Diabetes Mellitus, Experimental
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RGD |
PMID:21548839 |
RGD:6484542 |
NCBI chr 2:55,967,766...56,003,450
Ensembl chr 2:54,240,137...54,275,978
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G
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Slc10a2
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solute carrier family 10 member 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:29382564 |
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NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
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G
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Slc51a
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solute carrier family 51 member A
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:29382564 |
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NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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G
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Slc51b
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SLC51 subunit beta
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:29382564 |
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NCBI chr 8:74,827,047...74,835,109
Ensembl chr 8:65,931,890...65,940,145
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G
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Slc9a1
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solute carrier family 9 member A1
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IMP
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associated with Diabetes Mellitus, Experimental
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RGD |
PMID:18057998 |
RGD:6771339 |
NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:145,576,334...145,629,624
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G
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Vegfa
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vascular endothelial growth factor A
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:26073000 |
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NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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G
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Tnfsf8
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TNF superfamily member 8
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:12930356 |
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NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421
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G
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Mtor
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mechanistic target of rapamycin kinase
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ISO
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RGD |
PMID:22645144 |
RGD:10040997 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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G
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Manf
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mesencephalic astrocyte-derived neurotrophic factor
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ISO
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ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome
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OMIM ClinVar |
PMID:25741868 PMID:26077850 PMID:33500254 |
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NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
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G
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Ace
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angiotensin I converting enzyme
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ISO
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ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3
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ClinVar |
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11076943 PMID:11551873 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14694062 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:16116425 PMID:16199547 PMID:19221299 PMID:20093180 PMID:21471972 PMID:22095942 PMID:24163131 PMID:25741868 PMID:28492532 PMID:33532864 PMID:35848000 More...
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NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G
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Adcy3
|
adenylate cyclase 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:25381014 |
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NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
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G
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Adcy8
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adenylate cyclase 8
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25381014 |
|
NCBI chr 7:96,417,310...96,665,911
Ensembl chr 7:96,417,324...96,665,911
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|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20372816 |
|
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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|
G
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Alb
|
albumin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19733855 |
|
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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|
G
|
Ass1
|
argininosuccinate synthase 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:25033204 |
|
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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|
G
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Bdkrb1
|
bradykinin receptor B1
|
|
IMP
|
|
RGD |
PMID:15878326 |
RGD:7241570 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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|
G
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Casp3
|
caspase 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25381014 |
|
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23154660 |
RGD:11526153 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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|
G
|
Cd28
|
Cd28 molecule
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell
|
RGD |
PMID:15504310 |
RGD:2307197 |
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
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|
G
|
Cd40lg
|
CD40 ligand
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:14963650 |
RGD:2314223 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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|
G
|
Crem
|
cAMP responsive element modulator
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25381014 |
|
NCBI chr17:58,932,011...59,001,160
Ensembl chr17:54,239,030...54,305,989
|
|
G
|
Cxcl12
|
C-X-C motif chemokine ligand 12
|
susceptibility
|
ISO
|
associated with Diabetic Foot;DNA:polymorphism:3' utr (human)
|
RGD |
PMID:16723689 |
RGD:2306558 |
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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|
G
|
Epo
|
erythropoietin
|
|
ISO
|
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2
|
OMIM ClinVar |
PMID:18458324 |
|
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
|
|
G
|
F3
|
coagulation factor III, tissue factor
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma
|
RGD |
PMID:16371118 PMID:9285207 |
RGD:2313861, RGD:2313868 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
|
|
G
|
Fas
|
Fas cell surface death receptor
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:15803113 |
RGD:2315753 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
|
|
G
|
Faslg
|
Fas ligand
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:25381014 PMID:15803113 |
RGD:2315753 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
|
|
G
|
Fn1
|
fibronectin 1
|
|
IDA
|
|
RGD |
PMID:12716757 |
RGD:1601179 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
|
|
G
|
Gch1
|
GTP cyclohydrolase 1
|
|
ISO
|
associated with type 2 diabetes mellitus;DNA:SNV: :C59038T (human)
|
RGD |
PMID:19515581 |
RGD:329961327 |
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698
|
|
G
|
Gp1ba
|
glycoprotein Ib platelet subunit alpha
|
|
ISO
|
|
RGD |
PMID:21411989 |
RGD:7242686 |
NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774
|
|
G
|
Gpx1
|
glutathione peroxidase 1
|
|
ISO
|
cardiovascular complications in type 2 diabetics
|
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
|
|
G
|
Gsr
|
glutathione-disulfide reductase
|
|
ISO
|
cardiovascular complications in type 2 diabetics
|
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661
|
|
G
|
Hfe
|
homeostatic iron regulator
|
|
ISO
|
ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7
|
ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10660483 PMID:11040194 PMID:11336458 PMID:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12584229 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20471131 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27667161 PMID:27890643 PMID:28492532 PMID:29404719 PMID:31061747 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
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|
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
|
|
G
|
Hmox1
|
heme oxygenase 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:16959961 |
|
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
|
|
G
|
Hp
|
haptoglobin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16597321 |
|
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
|
|
G
|
Icam1
|
intercellular adhesion molecule 1
|
|
IDA ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta
|
RGD |
PMID:18796303 PMID:18093596 |
RGD:2313473, RGD:2306988 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
|
|
G
|
Igfbp1
|
insulin-like growth factor binding protein 1
|
|
ISO
|
DNA:SNPs
|
RGD |
PMID:16306374 |
RGD:1625238 |
NCBI chr14:86,261,277...86,266,344
Ensembl chr14:82,047,415...82,052,482
|
|
G
|
Il1rn
|
interleukin 1 receptor antagonist
|
|
ISO
|
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
|
|
G
|
Itgam
|
integrin subunit alpha M
|
|
ISO
|
protein:increased expression:neutrophil (human)
|
RGD |
PMID:18496641 |
RGD:329901826 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
|
|
G
|
Mmp14
|
matrix metallopeptidase 14
|
|
ISO
|
|
RGD |
PMID:12477149 |
RGD:1582581 |
NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864
|
|
G
|
Mthfr
|
methylenetetrahydrofolate reductase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16681562 |
|
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
|
|
G
|
Nos2
|
nitric oxide synthase 2
|
|
IEP IMP
|
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
|
RGD |
PMID:19241604 PMID:19587355 |
RGD:4891384, RGD:2313210 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
|
|
G
|
Nos3
|
nitric oxide synthase 3
|
treatment
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12124201 PMID:19241604 PMID:29329611 |
RGD:4891384, RGD:13504708 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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|
G
|
Pecam1
|
platelet and endothelial cell adhesion molecule 1
|
|
ISO
|
associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus
|
RGD |
PMID:10329590 |
RGD:2311657 |
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
|
|
G
|
Plat
|
plasminogen activator, tissue type
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:18945481 |
RGD:2311663 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
|
|
G
|
Pon1
|
paraoxonase 1
|
|
ISO
|
associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human) ClinVar Annotator: match by term: RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
|
ClinVar RGD |
PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 PMID:11918623 PMID:25741868 PMID:17949258 More...
|
RGD:2313270 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
|
|
G
|
Ptk2b
|
protein tyrosine kinase 2 beta
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:21926342 |
RGD:10041069 |
NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282
|
|
G
|
Rbp4
|
retinol binding protein 4
|
disease_progression
|
ISO
|
protein:increased expression:blood serum (human)
|
RGD |
PMID:33294897 |
RGD:329853310 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
|
|
G
|
Rela
|
RELA proto-oncogene, NF-kB subunit
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25381014 |
|
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
|
|
G
|
RT1-Db1
|
RT1 class II, locus Db1
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus Type 1;DNA:polymorphism: :HLA-DRB1*03:01(human)
|
RGD |
PMID:23376458 |
RGD:7365114 |
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
|
|
G
|
Serpine1
|
serpin family E member 1
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human)
|
RGD |
PMID:9844142 |
RGD:8547700 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
|
|
G
|
Serpinf1
|
serpin family F member 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25381014 |
|
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
|
|
G
|
Sod1
|
superoxide dismutase 1
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
|
|
G
|
Sod2
|
superoxide dismutase 2
|
|
ISO
|
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 6
|
OMIM ClinVar |
PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 PMID:17192491 More...
|
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NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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|
G
|
Sparc
|
secreted protein acidic and cysteine rich
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel
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RGD |
PMID:10625572 |
RGD:2300063 |
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
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|
G
|
Thbs1
|
thrombospondin 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25381014 |
|
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
|
|
G
|
Thbs2
|
thrombospondin 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25381014 |
|
NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789
|
|
G
|
Tnf
|
tumor necrosis factor
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human)
|
RGD |
PMID:18575614 |
RGD:2313255 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
|
|
G
|
Vegfa
|
vascular endothelial growth factor A
|
|
IEP ISO
|
protein:increased expression:cochlea: ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 | ClinVar Annotator: match by term: VEGFA-related condition
|
ClinVar OMIM RGD |
PMID:11978667 PMID:25741868 PMID:28492532 PMID:19241604 |
RGD:4891384 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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|
|
G
|
A2m
|
alpha-2-macroglobulin
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21742475 |
RGD:10046044 |
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
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|
G
|
Ace
|
angiotensin I converting enzyme
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22595130 |
RGD:9685456 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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|
G
|
Ace2
|
angiotensin converting enzyme 2
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22595130 |
RGD:9685456 |
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:30,293,589...30,340,977
|
|
G
|
Acot1
|
acyl-CoA thioesterase 1
|
|
ISO
|
associated with type 2 diabetes mellitus
|
RGD |
PMID:23226270 |
RGD:13831128 |
NCBI chr 6:109,367,274...109,375,268
Ensembl chr 6:103,636,041...103,644,163
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|
G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
|
IEP
|
associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum
|
RGD |
PMID:24669271 |
RGD:8695938 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
|
|
G
|
Adipor1
|
adiponectin receptor 1
|
|
IEP
|
associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum
|
RGD |
PMID:24669271 |
RGD:8695938 |
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
treatment
|
IEP IDA
|
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat)
|
RGD |
PMID:23251674 PMID:23251674 |
RGD:7244283, RGD:7244283 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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G
|
Agt
|
angiotensinogen
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:29353218 |
|
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
|
|
G
|
Agtr2
|
angiotensin II receptor, type 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15587404 PMID:16025228 |
|
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
|
|
G
|
Akt1
|
AKT serine/threonine kinase 1
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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|
G
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Apoa1
|
apolipoprotein A1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:18332268 |
|
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
|
|
G
|
Atf6
|
activating transcription factor 6
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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G
|
Atp2a2
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
|
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16685413 PMID:21441944 |
RGD:6771209 |
NCBI chr12:39,733,519...39,782,942
Ensembl chr12:34,072,683...34,122,101
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G
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Atp7a
|
ATPase copper transporting alpha
|
treatment
|
IMP
|
|
RGD |
PMID:24927960 |
RGD:11341676 |
NCBI chr X:75,159,635...75,267,094
Ensembl chr X:71,094,202...71,198,354
|
|
G
|
Bad
|
BCL2-associated agonist of cell death
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21296063 |
RGD:10053697 |
NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823
|
|
G
|
Bax
|
BCL2 associated X, apoptosis regulator
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
|
|
G
|
Bcl2
|
BCL2, apoptosis regulator
|
treatment
|
IDA ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse)
|
RGD |
PMID:21296063 PMID:21474815 |
RGD:10053697, RGD:11522727 |
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
|
|
G
|
Brd4
|
bromodomain containing 4
|
|
IEP
|
mRNA,protein:increased expression:heart
|
RGD |
PMID:30483785 |
RGD:597830144 |
NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,216,446...11,295,539
|
|
G
|
Casp12
|
caspase 12
|
treatment
|
IEP
|
associated with Experimental Diabetes Mellitus
|
RGD |
PMID:26869403 |
RGD:13782171 |
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
|
|
G
|
Casp3
|
caspase 3
|
treatment
|
IEP
|
|
RGD |
PMID:28992627 |
RGD:13782299 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G
|
Casp8
|
caspase 8
|
treatment
|
IEP
|
|
RGD |
PMID:28992627 |
RGD:13782299 |
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
|
|
G
|
Casp9
|
caspase 9
|
treatment
|
IEP
|
|
RGD |
PMID:28992627 |
RGD:13782299 |
Ensembl chr 5:154,109,046...154,126,626
|
|
G
|
Casq2
|
calsequestrin 2
|
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21441944 |
RGD:6771209 |
NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
|
|
G
|
Casr
|
calcium-sensing receptor
|
|
IEP
|
protein:decreased expression:myocardium (rat)
|
RGD |
PMID:22137362 |
RGD:7205677 |
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811
|
|
G
|
Cfl1
|
cofilin 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:27576917 |
RGD:11568692 |
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
|
|
G
|
Ctnnb1
|
catenin beta 1
|
|
IEP
|
mRNA,protein:increased expression:heart
|
RGD |
PMID:25586361 |
RGD:13524855 |
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
|
|
G
|
Ddit3
|
DNA-damage inducible transcript 3
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201
|
|
G
|
Erbb2
|
erb-b2 receptor tyrosine kinase 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium
|
RGD |
PMID:22285193 |
RGD:10449013 |
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
|
|
G
|
Erbb4
|
erb-b2 receptor tyrosine kinase 4
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium
|
RGD |
PMID:22285193 |
RGD:10449013 |
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
|
|
G
|
H19
|
H19 imprinted maternally expressed transcript
|
ameliorates
|
IMP ISO
|
|
RGD |
PMID:27796346 PMID:27903964 PMID:36044268 |
RGD:156430325, RGD:156451660, RGD:156430337 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
|
|
G
|
Hmox1
|
heme oxygenase 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23853776 PMID:23453443 |
RGD:9586347, RGD:10412713 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
|
|
G
|
Hsp90b1
|
heat shock protein 90 beta family member 1
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr 7:22,997,962...23,012,293
Ensembl chr 7:21,110,457...21,124,788
|
|
G
|
Hspa5
|
heat shock protein family A (Hsp70) member 5
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:11375343 |
|
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Igf2r
|
insulin-like growth factor 2 receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:36462176 |
|
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
|
|
G
|
Il10
|
interleukin 10
|
treatment
|
IDA
|
|
RGD |
PMID:23843977 |
RGD:7247697 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
|
|
G
|
Ins1
|
insulin 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:6225876 |
|
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
|
|
G
|
Ins2
|
insulin 2
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:20828608 |
|
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
|
|
G
|
Klk1
|
kallikrein 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:16129698 |
|
NCBI chr 1:103,779,152...103,783,270
Ensembl chr 1:94,642,687...94,646,754
|
|
G
|
Lepr
|
leptin receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:35235096 |
|
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
|
|
G
|
Map3k7
|
mitogen activated protein kinase kinase kinase 7
|
|
IEP
|
associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat)
|
RGD |
PMID:22146585 |
RGD:155883162 |
NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:46,357,931...46,415,597
|
|
G
|
Mapk1
|
mitogen activated protein kinase 1
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:25907942 |
RGD:13800893 |
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
|
|
G
|
Mapk3
|
mitogen activated protein kinase 3
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:25907942 |
RGD:13800893 |
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
|
|
G
|
Mir140
|
microRNA 140
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 PMID:31078585 |
RGD:156430337, RGD:329347833 |
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
|
|
G
|
Mtor
|
mechanistic target of rapamycin kinase
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
|
|
G
|
Myc
|
MYC proto-oncogene, bHLH transcription factor
|
|
IEP
|
mRNA,protein:increased expression:heart
|
RGD |
PMID:30483785 |
RGD:597830144 |
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
|
|
G
|
Mylk2
|
myosin light chain kinase 2
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:9005973 |
RGD:1580244 |
NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
|
|
G
|
Nfe2l2
|
NFE2 like bZIP transcription factor 2
|
ameliorates treatment
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:36044268 PMID:23353773 |
RGD:156430337, RGD:10412721 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
|
|
G
|
Nos3
|
nitric oxide synthase 3
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:29274332 |
RGD:13504685 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
|
|
G
|
Notch1
|
notch receptor 1
|
treatment
|
IEP
|
|
RGD |
PMID:32828943 |
RGD:405650202 |
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
|
|
G
|
Nppa
|
natriuretic peptide A
|
treatment
|
IDA IEP
|
associated with Diabetes Mellitus, Experimental mRNA,protein:increased expression:heart
|
RGD |
PMID:23497378 PMID:30483785 |
RGD:7297056, RGD:597830144 |
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
|
|
G
|
Nrg1
|
neuregulin 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium
|
RGD |
PMID:22285193 PMID:32828943 |
RGD:10449013, RGD:405650202 |
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884
|
|
G
|
Pik3ca
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
ameliorates
|
ISO
|
|
RGD |
PMID:36044268 |
RGD:156430337 |
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
|
|
G
|
Pln
|
phospholamban
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle
|
RGD |
PMID:22185592 |
RGD:7327207 |
NCBI chr20:33,166,512...33,182,241
|
|
G
|
Ppara
|
peroxisome proliferator activated receptor alpha
|
|
IDA
|
Strain: ZDF
|
RGD |
PMID:19317897 |
RGD:5509944 |
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
|
|
G
|
Ryr2
|
ryanodine receptor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16685413 |
|
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
|
|
G
|
Slc25a4
|
solute carrier family 25 member 4
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:18945756 |
|
NCBI chr16:52,805,521...52,809,316
Ensembl chr16:46,072,939...46,076,733
|
|
G
|
Slc8a1
|
solute carrier family 8 member A1
|
treatment
|
IEP
|
|
RGD |
PMID:27058979 |
RGD:13628396 |
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
|
|
G
|
Spp1
|
secreted phosphoprotein 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16980342 |
|
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
|
|
G
|
Tert
|
telomerase reverse transcriptase
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:21264070 |
RGD:11038677 |
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
|
|
G
|
Tnf
|
tumor necrosis factor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17909696 |
|
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
|
|
G
|
Xdh
|
xanthine dehydrogenase
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23843977 |
RGD:7247697 |
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
|
|
|
G
|
Gsr
|
glutathione-disulfide reductase
|
|
ISO
|
|
RGD |
PMID:12518238 |
RGD:10401829 |
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661
|
|
|
G
|
Aifm1
|
apoptosis inducing factor, mitochondria associated 1
|
|
IDA
|
protein:increased expression:nuclei:
|
RGD |
PMID:20879002 |
RGD:10053565 |
NCBI chr X:132,528,107...132,567,237
Ensembl chr X:127,650,226...127,689,256
|
|
G
|
Bad
|
BCL2-associated agonist of cell death
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23129268 |
RGD:10053664 |
NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823
|
|
G
|
Casp12
|
caspase 12
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder detrusor smooth muscle
|
RGD |
PMID:26370333 |
RGD:13782173 |
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
|
|
|
G
|
Fadd
|
Fas associated via death domain
|
|
ISO
|
|
RGD |
PMID:26419589 |
RGD:13792560 |
NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:199,739,994...199,745,653
|
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23529380 PMID:24291733 |
RGD:7244255, RGD:8553040 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
G
|
App
|
amyloid beta precursor protein
|
treatment
|
IEP
|
associated with type 2 diabetes mellitus
|
RGD |
PMID:28885995 |
RGD:13782056 |
NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561
|
|
G
|
Dusp1
|
dual specificity phosphatase 1
|
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17601561 |
RGD:7771546 |
NCBI chr10:17,184,853...17,187,646
|
|
G
|
Gsk3b
|
glycogen synthase kinase 3 beta
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:26970304 |
RGD:13792771 |
NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646
|
|
G
|
Ide
|
insulin degrading enzyme
|
|
ISO
|
associated with type 2 diabetes mellitus
|
RGD |
PMID:27306699 |
RGD:13792796 |
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
|
|
G
|
Ngf
|
nerve growth factor
|
treatment
|
ISO
|
associated with Diabetes Mellitus, Experimental associated with Experimental Diabetes Mellitus
|
RGD |
PMID:23528019 PMID:32681844 |
RGD:7242845, RGD:402463968 |
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
|
|
G
|
Ngfr
|
nerve growth factor receptor
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23528019 |
RGD:7242845 |
NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518
|
|
G
|
Pparg
|
peroxisome proliferator-activated receptor gamma
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:24291733 |
RGD:8553040 |
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
|
|
|
G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
|
ISO
|
protein:decreased expression:plasma
|
RGD |
PMID:20836881 |
RGD:5686889 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
|
RGD |
PMID:21941211 |
RGD:6767555 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
G
|
Crp
|
C-reactive protein
|
disease_progression
|
ISO
|
protein:increased expression:blood:
|
RGD |
PMID:22712631 |
RGD:6906887 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
|
|
G
|
Gja1
|
gap junction protein, alpha 1
|
|
ISO
|
protein:increased expression:dermis
|
RGD |
PMID:22455314 |
RGD:7207269 |
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
|
|
G
|
H19
|
H19 imprinted maternally expressed transcript
|
ameliorates
|
ISO
|
RNA:increased expression:foot (human)
|
RGD |
PMID:33174326 PMID:33174326 |
RGD:156451663, RGD:156451663 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
|
|
G
|
Hif1a
|
hypoxia inducible factor 1 subunit alpha
|
|
ISO
|
mRNA,protein:decreased expression:blood serum, foot (human)
|
RGD |
PMID:34293021 |
RGD:155260332 |
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
|
|
G
|
Hspa1b
|
heat shock protein family A (Hsp70) member 1B
|
severity
|
ISO
|
DNA:polymorphism: :1538G>A (human)
|
RGD |
PMID:19731315 |
RGD:8662463 |
NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
|
ISO
|
protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:
|
RGD |
PMID:10727985 |
RGD:8549356 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Il15
|
interleukin 15
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell
|
RGD |
PMID:17014667 |
RGD:2313575 |
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820
|
|
G
|
Itgam
|
integrin subunit alpha M
|
|
ISO
|
protein:increased expression:pes (human)
|
RGD |
PMID:37087778 |
RGD:329853756 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
|
|
G
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Mbl2
|
mannose binding lectin 2
|
|
ISO
|
protein:increased expression:serum:
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RGD |
PMID:19997692 |
RGD:8694068 |
NCBI chr 1:237,429,873...237,465,567
|
|
G
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Mir17
|
microRNA 17
|
|
ISO
|
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RGD |
PMID:36333728 |
RGD:329349308 |
NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712
|
|
G
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Mir210
|
microRNA 210
|
|
ISO
|
miRNA:increased expression:blood serum, foot (human)
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RGD |
PMID:34293021 |
RGD:155260332 |
NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454
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|
G
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Mmp9
|
matrix metallopeptidase 9
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severity
|
ISO
|
|
RGD |
PMID:22688339 |
RGD:8547813 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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|
G
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Notch1
|
notch receptor 1
|
|
ISO
|
protein:increased expression:skin, epidermis:
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RGD |
PMID:30886104 |
RGD:155646129 |
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
|
|
G
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Plat
|
plasminogen activator, tissue type
|
|
ISO
|
|
RGD |
PMID:17275886 |
RGD:2311669 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
|
|
G
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Ptx3
|
pentraxin 3
|
|
ISO
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protein:decreased expression:plasma (human)
|
RGD |
PMID:30767386 |
RGD:38501100 |
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
|
|
G
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Tlr4
|
toll-like receptor 4
|
susceptibility
|
ISO
|
DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);
|
RGD |
PMID:23936790 |
RGD:7777174 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
|
|
|
G
|
Aqp2
|
aquaporin 2
|
|
ISO
|
|
RGD |
PMID:12021537 |
RGD:2314345 |
NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
|
|
G
|
Ins2
|
insulin 2
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:11430560 |
|
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
|
|
G
|
Insr
|
insulin receptor
|
|
ISO
|
|
RGD |
PMID:15254588 |
RGD:1302526 |
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
|
|
G
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Pax4
|
paired box 4
|
|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to
|
ClinVar OMIM |
PMID:9536098 PMID:15509590 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
|
|
G
|
Serpina7
|
serpin family A member 7
|
|
ISO
|
protein:decreased expression:serum
|
RGD |
PMID:6768790 |
RGD:2312332 |
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
|
|
|
G
|
Ace
|
angiotensin I converting enzyme
|
treatment no_association susceptibility
|
IMP ISO IDA
|
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2;DNA:insertion/deletion associated with Diabetes Mellitus, Type 1;DNA:insertion/deletion associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
|
CTD RGD |
PMID:7909524 PMID:10099885 PMID:10857950 PMID:23733546 PMID:28468961 PMID:19301230 PMID:23803175 PMID:11938025 PMID:10862638 PMID:7729604 PMID:8314010 PMID:15118671 More...
|
RGD:2311449, RGD:11039044, RGD:8548885, RGD:8548872, RGD:7829780, RGD:7829777, RGD:1331525 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
|
|
G
|
Ace2
|
angiotensin converting enzyme 2
|
no_association
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple (human) CTD Direct Evidence: marker/mechanism|therapeutic associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:decreased expression:kidney mRNA, protein:altered expression:kidney associated with Diabetes Mellitus, Experimental
|
CTD RGD |
PMID:12623933 PMID:17600118 PMID:20844835 PMID:18235039 PMID:19034303 PMID:19077419 PMID:18235039 More...
|
RGD:2313800, RGD:2313797, RGD:2313796, RGD:2313800 |
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:30,293,589...30,340,977
|
|
G
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Actn1
|
actinin, alpha 1
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
|
|
G
|
Acvr1
|
activin A receptor type 1
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney
|
RGD |
PMID:11675415 |
RGD:2313802 |
NCBI chr 3:63,387,378...63,506,980
Ensembl chr 3:42,978,561...43,098,241
|
|
G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
disease_progression no_association
|
ISO
|
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 2;protein:increased expression:serum associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1501299 (human) associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs2241766 (human)
|
CTD RGD |
PMID:17942768 PMID:21945031 PMID:17970779 PMID:23260797 PMID:23260797 |
RGD:5686409, RGD:8694475, RGD:8694443, RGD:8694443 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
|
|
G
|
Adora1
|
adenosine A1 receptor
|
|
IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:19552053 |
RGD:2313803 |
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
|
|
G
|
Adra2b
|
adrenoceptor alpha 2B
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism (human)
|
RGD |
PMID:15660746 |
RGD:2313545 |
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
|
|
G
|
Adrb3
|
adrenoceptor beta 3
|
|
ISO
|
associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human)
|
RGD |
PMID:9867224 |
RGD:5684403 |
NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
treatment susceptibility
|
IEP ISO IDA
|
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex, glomerulus associated with Diabetes Mellitus, Type 2;protein:increased expression:renal cortex (mouse) associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1704G>T (human) associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) (human) associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
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RGD |
PMID:19142024 PMID:34018383 PMID:12651605 PMID:14747204 PMID:21533139 PMID:23091285 PMID:21856399 PMID:12651605 More...
|
RGD:2325651, RGD:597621686, RGD:7243248, RGD:8695982, RGD:7244187, RGD:7244174, RGD:7243852, RGD:7243248 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
G
|
Agt
|
angiotensinogen
|
disease_progression no_association
|
ISO
|
CTD Direct Evidence: therapeutic associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
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CTD RGD |
PMID:17890855 PMID:20383342 PMID:15118671 PMID:19014923 PMID:11938025 PMID:10862638 PMID:8772723 More...
|
RGD:1331525, RGD:11039058, RGD:8548885, RGD:8548872, RGD:8548868 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
|
|
G
|
Agtr1a
|
angiotensin II receptor, type 1a
|
|
IMP ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1166A>C (human)
|
RGD |
PMID:12172324 PMID:12476891 |
RGD:6903861, RGD:8548891 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
|
|
G
|
Agtr2
|
angiotensin II receptor, type 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney
|
RGD |
PMID:18565281 |
RGD:6903847 |
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
|
|
G
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Ahsg
|
alpha-2-HS-glycoprotein
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
|
RGD |
PMID:15698447 |
RGD:2313813 |
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
|
|
G
|
Akr1b1
|
aldo-keto reductase family 1 member B1
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n (human)
|
RGD |
PMID:9215310 PMID:9000706 |
RGD:734542, RGD:8548641 |
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
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|
G
|
Alb
|
albumin
|
|
IEP ISO
|
associated with Metabolic Syndrome X;protein:increased expression:urine CTD Direct Evidence: therapeutic associated with Diabetes Mellitus, Experimental;protein:increased expression:urine associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine
|
CTD RGD |
PMID:16380483 PMID:19424163 PMID:21441310 PMID:19397971 PMID:19246226 |
RGD:2306882, RGD:5135032, RGD:2306885, RGD:2306886 |
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
|
|
G
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Alpk1
|
alpha-kinase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:27542954 |
|
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
|
|
G
|
Aoc3
|
amine oxidase, copper containing 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14977883 |
|
NCBI chr10:86,272,757...86,280,702
|
|
G
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Apoa1
|
apolipoprotein A1
|
|
ISO
|
|
RGD |
PMID:9829487 |
RGD:2313960 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
|
|
G
|
Apoa2
|
apolipoprotein A2
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
|
RGD |
PMID:11126402 PMID:9829487 |
RGD:2313958, RGD:2313960 |
NCBI chr13:86,176,767...86,178,819
Ensembl chr13:83,644,470...83,646,355
|
|
G
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Apob
|
apolipoprotein B
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:19324028 |
RGD:2313979 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
|
|
G
|
Apoc1
|
apolipoprotein C1
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:very-low-density lipoprotein particle
|
RGD |
PMID:12753304 |
RGD:2313950 |
NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
|
|
G
|
Apoc3
|
apolipoprotein C3
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C
|
RGD |
PMID:16813599 |
RGD:2306755 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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|
G
|
Apoe
|
apolipoprotein E
|
susceptibility no_association
|
ISO
|
DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) associated with Diabetes Mellitus, type 1; associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21127830 PMID:11495633 PMID:22859852 |
RGD:6903840, RGD:7771553, RGD:6902935 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
|
|
G
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Apoh
|
apolipoprotein H
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
|
RGD |
PMID:11302005 |
RGD:2313989 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
|
|
G
|
Aqp2
|
aquaporin 2
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased secretion:urine
|
RGD |
PMID:12218327 |
RGD:2314343 |
NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
|
|
G
|
Arg2
|
arginase 2
|
|
ISO
|
|
RGD |
PMID:21926276 |
RGD:6902923 |
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
|
|
G
|
Asip
|
agouti signaling protein
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:37769864 |
|
NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:143,555,696...143,561,171
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|
G
|
Atp5f1b
|
ATP synthase F1 subunit beta
|
treatment
|
IDA
|
mRNA:decreased expression:renal glomerulus (rat)
|
RGD |
PMID:22591908 |
RGD:13792578 |
NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:515,460...567,273
|
|
G
|
Axl
|
Axl receptor tyrosine kinase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12644472 PMID:15619028 |
RGD:1579938 |
NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
|
|
G
|
Azin1
|
antizyme inhibitor 1
|
treatment
|
IEP
|
|
RGD |
PMID:26751697 |
RGD:14700801 |
NCBI chr 7:71,539,711...71,566,515
Ensembl chr 7:69,654,663...69,681,578
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|
G
|
Bdkrb2
|
bradykinin receptor B2
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17596525 |
RGD:2313335 |
NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497
|
|
G
|
Bdnf
|
brain-derived neurotrophic factor
|
|
IMP
|
|
RGD |
PMID:20557422 |
RGD:4891134 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
|
|
G
|
Becn1
|
beclin 1
|
|
IEP
|
protein:increased expression:kidney
|
RGD |
PMID:21866636 |
RGD:6483069 |
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
|
|
G
|
Bglap
|
bone gamma-carboxyglutamate protein
|
|
ISO
|
associated with Diabetes Mellitus, Type2; protein:increased expression:serum:
|
RGD |
PMID:9347246 |
RGD:7207424 |
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495
|
|
G
|
Bmp7
|
bone morphogenetic protein 7
|
|
IEP
|
|
RGD |
PMID:17437042 |
RGD:2289036 |
NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788
|
|
G
|
C3
|
complement C3
|
|
ISO IEP
|
associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney: associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:19200691 PMID:25662584 |
RGD:7183082, RGD:11040807 |
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
|
|
G
|
C5
|
complement C5
|
|
IEP
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:25662584 |
RGD:11040807 |
NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:18,270,696...18,361,994
|
|
G
|
Cacna1b
|
calcium voltage-gated channel subunit alpha1 B
|
treatment
|
ISO
|
|
RGD |
PMID:27273361 |
RGD:13506726 |
NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091
|
|
G
|
Capn10
|
calpain 10
|
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22012129 |
RGD:7247733 |
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
|
|
G
|
Casp12
|
caspase 12
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney
|
RGD |
PMID:19301230 |
RGD:2311449 |
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
|
|
G
|
Casp3
|
caspase 3
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney associated with Diabetes Mellitus, Experimental associated with type 2 diabetes mellitus
|
RGD |
PMID:19601660 PMID:29606028 PMID:28456626 |
RGD:2311440, RGD:13792586, RGD:13782304 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G
|
Casp7
|
caspase 7
|
treatment
|
IEP
|
associated with type 2 diabetes mellitus
|
RGD |
PMID:28456626 |
RGD:13782304 |
NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729
|
|
G
|
Casp8
|
caspase 8
|
treatment
|
IEP
|
associated with type 2 diabetes mellitus associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:28456626 PMID:29606028 |
RGD:13782304, RGD:13792586 |
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
|
|
G
|
Casp9
|
caspase 9
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:30038056 PMID:29606028 |
RGD:13782342, RGD:13792586 |
Ensembl chr 5:154,109,046...154,126,626
|
|
G
|
Cat
|
catalase
|
|
ISO IMP IDA IEP
|
rat gene in db/db mice associated with experimentally induced diabetes
|
RGD |
PMID:22315314 PMID:20299359 PMID:21525431 PMID:21686137 |
RGD:7205651, RGD:7205676, RGD:7205665, RGD:7205662 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
|
|
G
|
Cav1
|
caveolin 1
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
|
|
G
|
Ccl11
|
C-C motif chemokine ligand 11
|
|
ISO
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:21113841 |
RGD:5683918 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
|
|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
susceptibility disease_progression
|
ISO IEP
|
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney protein:increased expression:urine associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney
|
CTD RGD |
PMID:16374426 PMID:17968528 PMID:19369290 PMID:19409809 PMID:19097668 PMID:18031723 More...
|
RGD:2306991, RGD:2306980, RGD:2306979, RGD:2306982, RGD:2306989 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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|
G
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Ccl20
|
C-C motif chemokine ligand 20
|
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17664181 |
RGD:7483629 |
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
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|
G
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Ccl5
|
C-C motif chemokine ligand 5
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine
|
RGD |
PMID:12610055 PMID:18326229 |
RGD:2307107, RGD:2307063 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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|
G
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Ccn2
|
cellular communication network factor 2
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat) associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)
|
RGD |
PMID:19895808 PMID:34018383 PMID:19065061 |
RGD:2314366, RGD:597621686, RGD:2314604 |
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
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G
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Ccne1
|
cyclin E1
|
|
IEP
|
protein:increased expression:kidney
|
RGD |
PMID:17825795 |
RGD:2289273 |
NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101
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|
G
|
Ccr2
|
C-C motif chemokine receptor 2
|
no_association
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.V64I (human)
|
RGD |
PMID:17631861 PMID:11756347 |
RGD:2313558, RGD:2313563 |
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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|
G
|
Ccr5
|
C-C motif chemokine receptor 5
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:59029G>A (human) associated with Diabetes Mellitus, Type 2;DNA:SNP: :59029G>A (human)
|
RGD |
PMID:12610055 PMID:17428349 |
RGD:2307107, RGD:8549756 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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|
G
|
Cd36
|
CD36 molecule
|
|
IEP
|
protein:increased expression:renal proximal tubule, endothelial cell
|
RGD |
PMID:15737001 |
RGD:2307215 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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|
G
|
Cd38
|
CD38 molecule
|
|
IMP ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:19073639 PMID:19300526 |
RGD:2307227, RGD:2307228 |
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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|
G
|
Cd40lg
|
CD40 ligand
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum
|
RGD |
PMID:18756582 |
RGD:2314208 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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|
G
|
Cdkn1a
|
cyclin-dependent kinase inhibitor 1A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:27652271 |
|
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
|
|
G
|
Cdkn1b
|
cyclin-dependent kinase inhibitor 1B
|
|
IEP
|
mRNA, protein:increased expression:kidney, glomerulus
|
RGD |
PMID:15698433 PMID:16805985 |
RGD:2293628, RGD:2293619 |
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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|
G
|
Cfl1
|
cofilin 1
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat)
|
RGD |
PMID:24726496 |
RGD:11570419 |
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
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|
G
|
Clu
|
clusterin
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:18949565 |
RGD:9068414 |
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
|
|
G
|
Cndp1
|
carnosine dipeptidase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:17942768 PMID:21393041 PMID:21573905 PMID:21393041 |
RGD:7207213 |
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
|
|
G
|
Cndp2
|
carnosine dipeptidase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21573905 |
|
NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
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|
G
|
Col1a1
|
collagen type I alpha 1 chain
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus (rat)
|
RGD |
PMID:22903132 |
RGD:8552684 |
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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|
G
|
Col1a2
|
collagen type I alpha 2 chain
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
|
|
G
|
Col4a1
|
collagen type IV alpha 1 chain
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental
|
CTD RGD |
PMID:18682491 PMID:27997345 PMID:19466391 PMID:17582205 |
RGD:2311340, RGD:2311342 |
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
|
|
G
|
Col6a3
|
collagen type VI alpha 3 chain
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471
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|
G
|
Cpb2
|
carboxypeptidase B2
|
susceptibility
|
ISO
|
DNA:SNP:cds:1040C>T(human) protein:increased expression:plasma
|
RGD |
PMID:22932273 PMID:12574207 |
RGD:7243116, RGD:7243123 |
NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556
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|
G
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Creb1
|
cAMP responsive element binding protein 1
|
susceptibility
|
IEP
|
|
RGD |
PMID:15862029 |
RGD:10059365 |
NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816
|
|
G
|
Crp
|
C-reactive protein
|
disease_progression
|
ISO
|
associated with Diabetes Mellitus, Type 1 associated with Diabetes Mellitus, Type 2;protein:increased expression:urine
|
RGD |
PMID:22885250 PMID:22590912 |
RGD:6906965, RGD:6906967 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
|
|
G
|
Csf1r
|
colony stimulating factor 1 receptor
|
disease_progression
|
ISO IEP
|
associated with Diabetes Mellitus, Type 2 mRNA,protein:increased expression:kidney (rat)
|
RGD |
PMID:19466391 PMID:32141565 |
RGD:2311340, RGD:151665767 |
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
|
|
G
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Cst3
|
cystatin C
|
|
IEP ISO
|
protein:increased expression:plasma (rat) protein:increased expression:serum (human)
|
RGD |
PMID:18946178 PMID:19132849 |
RGD:2314297, RGD:2314328 |
NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822
|
|
G
|
Ctla4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma:
|
RGD |
PMID:18026823 |
RGD:2312302 |
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
|
|
G
|
Ctsd
|
cathepsin D
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28468961 |
|
NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488
|
|
G
|
Cubn
|
cubilin
|
|
IEP
|
|
RGD |
PMID:17037740 |
RGD:1599655 |
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
|
|
G
|
Cxcl10
|
C-X-C motif chemokine ligand 10
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma associated with Diabetes Mellitus, Insulin-Dependent
|
RGD |
PMID:17425653 PMID:19073786 |
RGD:2311359, RGD:2311357 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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|
G
|
Cxcr2
|
C-X-C motif chemokine receptor 2
|
treatment
|
ISO
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:22791342 |
RGD:7257674 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
|
|
G
|
Cyba
|
cytochrome b-245 alpha chain
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human)
|
RGD |
PMID:14747204 |
RGD:8695982 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
|
|
G
|
Cyp11b2
|
cytochrome P450, family 11, subfamily b, polypeptide 2
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human)
|
RGD |
PMID:16672053 |
RGD:2307295 |
NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004
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|
G
|
Cyp11b3
|
cytochrome P450, family 11, subfamily b, polypeptide 3
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human)
|
RGD |
PMID:16672053 |
RGD:2307295 |
NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048
|
|
G
|
Cyp19a1
|
cytochrome P450, family 19, subfamily a, polypeptide 1
|
treatment
|
IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22301628 |
RGD:7257708 |
NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758
|
|
G
|
Cyp2j4
|
cytochrome P450, family 2, subfamily j, polypeptide 4
|
|
ISO
|
associated with Diabetes Mellitus, Experimental;
|
RGD |
PMID:21742052 |
RGD:7243153 |
NCBI chr 5:116,295,691...116,323,219
Ensembl chr 5:111,178,703...111,244,794
|
|
G
|
Dcn
|
decorin
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent protein:increased expression:plasma, urine associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus
|
RGD |
PMID:12187087 PMID:11259366 PMID:17884968 PMID:16868749 |
RGD:2311415, RGD:2311416, RGD:2311411, RGD:2311412 |
NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270
|
|
G
|
Dgkh
|
diacylglycerol kinase, eta
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20665664 |
|
NCBI chr15:53,981,079...54,150,470
Ensembl chr15:53,991,481...54,150,706
|
|
G
|
Dkk1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:20019166 |
RGD:6907383 |
NCBI chr 1:237,794,969...237,798,650
Ensembl chr 1:228,381,521...228,385,202
|
|
G
|
Edn1
|
endothelin 1
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased secretion:plasma (human)
|
RGD |
PMID:18346810 |
RGD:2313284 |
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
|
|
G
|
Ednra
|
endothelin receptor type A
|
|
IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21191784 |
RGD:4892326 |
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049
|
|
G
|
Egf
|
epidermal growth factor
|
|
ISO
|
|
RGD |
PMID:17475821 |
RGD:6906912 |
NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064
|
|
G
|
Elmo1
|
engulfment and cell motility 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17942768 |
|
NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788
|
|
G
|
Eng
|
endoglin
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney
|
RGD |
PMID:19395281 |
RGD:2313795 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
|
|
G
|
Enpep
|
glutamyl aminopeptidase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28468961 |
|
NCBI chr 2:217,781,985...217,851,947
Ensembl chr 2:217,782,005...217,851,947
|
|
G
|
Enpp1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ISO
|
|
RGD |
PMID:19506043 |
RGD:6906926 |
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715
|
|
G
|
Ep300
|
E1A binding protein p300
|
treatment
|
IEP IDA
|
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)
|
RGD |
PMID:19268536 PMID:19268536 |
RGD:2311716, RGD:2311716 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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|
G
|
Epas1
|
endothelial PAS domain protein 1
|
treatment
|
IDA IEP
|
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17967803 PMID:17914354 |
RGD:10395374, RGD:10395377 |
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
|
|
G
|
Ephx2
|
epoxide hydrolase 2
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21832210 |
RGD:5688728 |
NCBI chr15:44,465,447...44,503,157
Ensembl chr15:40,289,902...40,327,615
|
|
G
|
Epo
|
erythropoietin
|
|
ISO
|
associated with Diabetes Mellitus, Experimental; DNA:snp:promoter:-1125T>G(rs1617640)(human)
|
RGD |
PMID:19619913 PMID:19356735 PMID:18458324 |
RGD:2313832, RGD:2313833, RGD:2313838 |
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
|
|
G
|
Errfi1
|
ERBB receptor feedback inhibitor 1
|
|
IEP
|
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney:
|
RGD |
PMID:10749885 |
RGD:9685546 |
NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
|
|
G
|
Esr1
|
estrogen receptor 1
|
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human)
|
RGD |
PMID:16464734 PMID:18305958 |
RGD:2314020, RGD:2314005 |
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
|
|
G
|
F2
|
coagulation factor II, thrombin
|
disease_progression
|
ISO
|
protein:increased expression:plasma (human) DNA:polymorphism: :20210G>A(human)
|
RGD |
PMID:21955218 PMID:14983223 PMID:21574459 |
RGD:6893574, RGD:2313643, RGD:6893575 |
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
|
|
G
|
F3
|
coagulation factor III, tissue factor
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
|
RGD |
PMID:15004866 |
RGD:2313863 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
|
|
G
|
Fabp2
|
fatty acid binding protein 2
|
|
ISO
|
|
RGD |
PMID:16249461 |
RGD:1578457 |
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
|
|
G
|
Fas
|
Fas cell surface death receptor
|
|
ISO IEP
|
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat) mRNA:increased expression:kidney
|
RGD |
PMID:17851466 PMID:12861046 PMID:18287563 |
RGD:2315705, RGD:8686421, RGD:2312739 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
|
|
G
|
Faslg
|
Fas ligand
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney
|
RGD |
PMID:17851466 |
RGD:2315705 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
|
|
G
|
Fbn1
|
fibrillin 1
|
onset
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:16395273 PMID:16380460 |
RGD:7365077, RGD:7365080 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
|
|
G
|
Fbxw12
|
F-box and WD repeat domain containing 12
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:36073553 |
|
NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
|
|
G
|
Fgf2
|
fibroblast growth factor 2
|
|
ISO
|
mRNA:increased expression:kidney
|
RGD |
PMID:19279131 |
RGD:2315842 |
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
|
|
G
|
Fgf21
|
fibroblast growth factor 21
|
|
ISO
|
protein:increased expression:serum:
|
RGD |
PMID:25625802 |
RGD:10401920 |
NCBI chr 1:105,219,825...105,221,376
Ensembl chr 1:96,083,441...96,090,454
|
|
G
|
Fgf23
|
fibroblast growth factor 23
|
severity
|
IEP
|
mRNA,protein:increased expression:kidney:
|
RGD |
PMID:23967103 |
RGD:10044235 |
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:159,914,272...159,923,821
|
|
G
|
Flt1
|
Fms related receptor tyrosine kinase 1
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine
|
RGD |
PMID:15610240 |
RGD:2313731 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
|
|
G
|
Fmod
|
fibromodulin
|
|
ISO
|
mRNA,protein:increased expression:Kidney Glomerulus associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex
|
RGD |
PMID:11259366 PMID:16868749 |
RGD:2311416, RGD:2311412 |
NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133
|
|
G
|
Fn1
|
fibronectin 1
|
treatment
|
ISO IEP
|
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney mRNA:increased expression:nephron tubule (human) CTD Direct Evidence: marker/mechanism protein:increased expression:kidney cortex:
|
CTD RGD |
PMID:24413998 PMID:16301823 PMID:35592524 PMID:22736507 |
RGD:7206843, RGD:401851916, RGD:10402169 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
|
|
G
|
Fto
|
FTO, alpha-ketoglutarate dependent dioxygenase
|
susceptibility
|
ISO
|
associated with diabetes mellitus;DNA:SNP: :rs17817449 (human) associated with type 2 diabetes mellitus;DNA:SNPs: :rs1121980, rs1421085, rs17817449 (human) associated with type 2 diabetes mellitus;DNA:SNP: :rs7204609 (human)
|
RGD |
PMID:29154870 PMID:29410390 PMID:34134115 |
RGD:329813082, RGD:329901856, RGD:329813084 |
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
|
|
G
|
Fuca1
|
alpha-L-fucosidase 1
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased activity;urine
|
RGD |
PMID:8343614 |
RGD:2315943 |
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
|
|
G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
treatment
|
IEP
|
associated with Hypertension
|
RGD |
PMID:21987533 |
RGD:10449128 |
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801
|
|
G
|
Gas6
|
growth arrest specific 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12644472 PMID:15619028 |
RGD:1579938 |
NCBI chr16:82,747,676...82,778,090
Ensembl chr16:76,045,426...76,075,904
|
|
G
|
Gatm
|
glycine amidinotransferase
|
|
HEP
|
|
RGD |
PMID:26364511 |
RGD:329961310 |
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
|
|
G
|
Gfpt1
|
glutamine fructose-6-phosphate transaminase 1
|
|
ISO
|
|
RGD |
PMID:9519709 |
RGD:2313353 |
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
|
|
G
|
Gfpt2
|
glutamine-fructose-6-phosphate transaminase 2
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr
|
RGD |
PMID:14764791 |
RGD:2307362 |
NCBI chr10:34,115,005...34,161,329
Ensembl chr10:34,115,052...34,161,329
|
|
G
|
Ghr
|
growth hormone receptor
|
susceptibility
|
ISO IEP IMP
|
associated with Diabetes Mellitus associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney
|
RGD |
PMID:10541297 PMID:10990443 PMID:10614635 PMID:15066219 |
RGD:2307370, RGD:2307368, RGD:2307369, RGD:2307364 |
NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735
|
|
G
|
Gipr
|
gastric inhibitory polypeptide receptor
|
|
ISO
|
|
RGD |
PMID:19211686 |
RGD:2306734 |
NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
|
|
G
|
Glo1
|
glyoxalase 1
|
no_association
|
ISO
|
DNA:SNP:promoter:-7C>T (human)
|
RGD |
PMID:21738003 PMID:21738003 |
RGD:7242569, RGD:7242569 |
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
|
|
G
|
Gpx1
|
glutathione peroxidase 1
|
treatment
|
ISO IEP
|
protein:increased expression:glomerulus associated with Experimental Diabetes Mellitus associated with Diabetes Mellitus, Type 1
|
RGD |
PMID:17609286 PMID:32592386 PMID:16249459 |
RGD:2306609, RGD:401827869, RGD:11068479 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
|
|
G
|
Gpx3
|
glutathione peroxidase 3
|
treatment
|
ISO IEP
|
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human) associated with Experimental Diabetes Mellitus
|
RGD |
PMID:17269729 PMID:32592386 |
RGD:2312635, RGD:401827869 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
|
|
G
|
Grk2
|
G protein-coupled receptor kinase 2
|
treatment
|
IEP
|
|
RGD |
PMID:23196710 |
RGD:13792785 |
NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:201,581,480...201,601,582
|
|
G
|
Grk3
|
G protein-coupled receptor kinase 3
|
treatment
|
IEP
|
|
RGD |
PMID:23196710 |
RGD:13792785 |
NCBI chr12:49,285,228...49,395,803
Ensembl chr12:43,624,897...43,731,262
|
|
G
|
Grk4
|
G protein-coupled receptor kinase 4
|
|
IEP
|
protein:decreased expression:cortex of kidney (rat)
|
RGD |
PMID:23196710 |
RGD:13792785 |
NCBI chr14:80,230,699...80,305,292
Ensembl chr14:76,006,218...76,080,693
|
|
G
|
Grk6
|
G protein-coupled receptor kinase 6
|
treatment
|
IEP
|
|
RGD |
PMID:23196710 |
RGD:13792785 |
NCBI chr17:9,182,160...9,198,380
Ensembl chr17:9,177,019...9,192,644
|
|
G
|
Gsk3b
|
glycogen synthase kinase 3 beta
|
treatment
|
IMP
|
|
RGD |
PMID:26888388 |
RGD:13792773 |
NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646
|
|
G
|
Gsr
|
glutathione-disulfide reductase
|
treatment
|
ISO IEP
|
associated with Diabetes Mellitus, Type 2;protein:decreased activity:kidney associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23626958 PMID:24947049 |
RGD:7257582, RGD:10401899 |
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661
|
|
G
|
Gstm1
|
glutathione S-transferase mu 1
|
no_association
|
ISO
|
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds: (human)
|
RGD |
PMID:19752172 |
RGD:7495818 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
|
|
G
|
Gstt1
|
glutathione S-transferase theta 1
|
disease_progression no_association
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human) associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)
|
RGD |
PMID:15927971 PMID:19752172 |
RGD:2306630, RGD:7495818 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
|
|
G
|
Has2
|
hyaluronan synthase 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla
|
RGD |
PMID:18441392 |
RGD:9588630 |
NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
|
|
G
|
Havcr1
|
hepatitis A virus cellular receptor 1
|
disease_progression
|
IEP ISO
|
protein:increased expression:plasma associated with Diabetes mellitus, Type 1; associated with Diabetes Mellitus,Type 2;protein:increased expression:urine:
|
RGD |
PMID:22997966 PMID:20980978 PMID:22015481 |
RGD:7245497, RGD:7246890, RGD:7245960 |
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
|
|
G
|
Hdac2
|
histone deacetylase 2
|
|
IEP ISO
|
mRNA,protein:increased expression:kidney:
|
RGD |
PMID:24717296 PMID:24717296 PMID:24717296 |
RGD:9590311, RGD:9590311, RGD:9590311 |
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
|
|
G
|
Hdac4
|
histone deacetylase 4
|
treatment
|
IEP IMP ISO
|
mRNA,protein:increased expression:kidney:
|
RGD |
PMID:24717296 PMID:24717296 PMID:24717296 PMID:24717296 |
RGD:9590311, RGD:9590311, RGD:9590311, RGD:9590311 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
|
|
G
|
Hdac5
|
histone deacetylase 5
|
|
IEP ISO
|
mRNA,protein:increased expression:kidney:
|
RGD |
PMID:24717296 PMID:24717296 PMID:24717296 |
RGD:9590311, RGD:9590311, RGD:9590311 |
NCBI chr10:87,653,139...87,688,078
Ensembl chr10:87,152,978...87,188,235
|
|
G
|
Hfe
|
homeostatic iron regulator
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)
|
RGD |
PMID:15347835 |
RGD:8694362 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
|
|
G
|
Hgf
|
hepatocyte growth factor
|
|
ISO
|
|
RGD |
PMID:16340242 |
RGD:2313567 |
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
|
|
G
|
Hif1a
|
hypoxia inducible factor 1 subunit alpha
|
treatment
|
IDA IEP
|
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17967803 PMID:17914354 |
RGD:10395374, RGD:10395377 |
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
|
|
G
|
Hmox1
|
heme oxygenase 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21849637 |
RGD:10755581 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
|
|
G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
IEP
|
mRNA:decreased expression:kidney, liver
|
RGD |
PMID:18184923 |
RGD:2301838 |
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
|
|
G
|
Hsd11b1
|
hydroxysteroid 11-beta dehydrogenase 1
|
susceptibility
|
ISO
|
DNA:SNO:intron: (rs17389016, rs11799643) (human)
|
RGD |
PMID:32453474 |
RGD:329902062 |
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
|
|
G
|
Hspa1a
|
heat shock protein family A (Hsp70) member 1A
|
|
ISO
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:18518860 |
RGD:7242747 |
NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227
|
|
G
|
Hspa1b
|
heat shock protein family A (Hsp70) member 1B
|
|
ISO
|
|
RGD |
PMID:18518860 |
RGD:7242747 |
NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
|
|
G
|
Hspa5
|
heat shock protein family A (Hsp70) member 5
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney
|
RGD |
PMID:19301230 |
RGD:2311449 |
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891
|
|
G
|
Hspa8
|
heat shock protein family A (Hsp70) member 8
|
|
ISO
|
|
RGD |
PMID:17330940 |
RGD:7242762 |
NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259
|
|
G
|
Hspb1
|
heat shock protein family B (small) member 1
|
|
IEP ISO
|
mRNA,protein:increased expression:glomerulus: protein:increased expression:glomerulus, podocyte:
|
RGD |
PMID:21931298 PMID:21931298 |
RGD:10402764, RGD:10402764 |
NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743
|
|
G
|
Htr2a
|
5-hydroxytryptamine receptor 2A
|
|
IMP ISO
|
associated with Diabetes Mellitus, Experimental; associated with Diabetes Mellitus Type 2;
|
RGD |
PMID:18175064 PMID:12213354 |
RGD:7257686, RGD:7257687 |
NCBI chr15:56,360,647...56,428,703
Ensembl chr15:49,950,804...50,020,928
|
|
G
|
Icam1
|
intercellular adhesion molecule 1
|
|
ISO IDA
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human) associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse)
|
RGD |
PMID:18299691 PMID:19246972 PMID:18505543 PMID:20447389 |
RGD:2312766, RGD:2313470, RGD:2313475, RGD:4145414 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
|
|
G
|
Ifng
|
interferon gamma
|
|
ISO
|
mRNA, protein:increased expression:kidney, T cell
|
RGD |
PMID:22286547 |
RGD:6893364 |
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
|
ISO IEP
|
protein:decreased expression:serum associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat)
|
RGD |
PMID:17194636 PMID:10444029 |
RGD:2313764, RGD:12904967 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Igf1r
|
insulin-like growth factor 1 receptor
|
|
IEP
|
mRNA,protein:increased expression:kidney:
|
RGD |
PMID:19008912 |
RGD:10046022 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
|
|
G
|
Igf2
|
insulin-like growth factor 2
|
|
IEP ISO
|
associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver: associates with Diabetes Mellitus; mRNA:decreased expression:brain:
|
RGD |
PMID:9336345 PMID:8764603 PMID:9336345 |
RGD:5510019, RGD:5510022, RGD:5510019 |
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
|
|
G
|
Igfbp1
|
insulin-like growth factor binding protein 1
|
|
ISO
|
DNA:SNPs
|
RGD |
PMID:16306374 |
RGD:1625238 |
NCBI chr14:86,261,277...86,266,344
Ensembl chr14:82,047,415...82,052,482
|
|
G
|
Il10
|
interleukin 10
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human)
|
RGD |
PMID:19031431 |
RGD:2308943 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
|
|
G
|
Il1b
|
interleukin 1 beta
|
|
ISO IDA
|
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22086159 PMID:19769609 |
RGD:7175266, RGD:7175519 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
|
|
G
|
Il1rn
|
interleukin 1 receptor antagonist
|
susceptibility no_association
|
ISO
|
associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
|
RGD |
PMID:16174285 PMID:17286233 |
RGD:6907371, RGD:6909120 |
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
|
|
G
|
Il6
|
interleukin 6
|
susceptibility
|
ISO IDA
|
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat)
|
RGD |
PMID:18716362 PMID:19542902 PMID:19052104 |
RGD:2307282, RGD:7829816, RGD:2307281 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
|
|
G
|
Ins2
|
insulin 2
|
resistance
|
IDA ISO
|
CTD Direct Evidence: marker/mechanism|therapeutic
|
CTD RGD |
PMID:2143390 PMID:7713310 PMID:7987072 PMID:22068113 |
RGD:6902908 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
|
|
G
|
Irs2
|
insulin receptor substrate 2
|
|
ISO
|
mRNA:increased expression:kidney tubule
|
RGD |
PMID:23617393 |
RGD:7257702 |
NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482
|
|
G
|
Itga2
|
integrin subunit alpha 2
|
severity
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:mesangial cell (human)
|
RGD |
PMID:8989742 |
RGD:2307420 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
|
|
G
|
Itgb2
|
integrin subunit beta 2
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600
|
|
G
|
Jak2
|
Janus kinase 2
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22745068 |
RGD:10403082 |
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189
|
|
G
|
Kcnn4
|
potassium calcium-activated channel subfamily N member 4
|
ameliorates
|
ISO
|
|
RGD |
PMID:24733189 PMID:29425253 |
RGD:329955448, RGD:329969879 |
NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340
|
|
G
|
Kdm6a
|
lysine demethylase 6A
|
|
ISO
|
associated with Diabetes Mellitus, Type 1;protein:increased expression:kidney (mouse)
|
RGD |
PMID:23508046 |
RGD:9587808 |
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
|
|
G
|
Kdr
|
kinase insert domain receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18630688 |
|
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
|
|
G
|
Keap1
|
Kelch-like ECH-associated protein 1
|
|
IDA
|
|
RGD |
PMID:21439372 |
RGD:6893386 |
NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862
|
|
G
|
Kl
|
Klotho
|
treatment
|
IEP
|
protein:decreased expression:kidney:
|
RGD |
PMID:24136780 |
RGD:10403079 |
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080
|
|
G
|
Klk1
|
kallikrein 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:19516248 |
|
NCBI chr 1:103,779,152...103,783,270
Ensembl chr 1:94,642,687...94,646,754
|
|
G
|
Klk1c12
|
kallikrein 1-related peptidase C12
|
|
ISO
|
|
RGD |
PMID:17272402 |
RGD:1641794 |
NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
|
|
G
|
Klkb1
|
kallikrein B1
|
disease_progression
|
ISO
|
associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma:
|
RGD |
PMID:12716755 |
RGD:7327151 |
NCBI chr16:53,690,180...53,714,570
Ensembl chr16:46,958,707...46,982,053
|
|
G
|
Kng1
|
kininogen 1
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human)
|
RGD |
PMID:17065357 |
RGD:2311541 |
NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555
|
|
G
|
Kng2
|
kininogen 2
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human)
|
RGD |
PMID:17065357 |
RGD:2311541 |
NCBI chr11:91,418,470...91,440,841
Ensembl chr11:77,909,612...78,002,971
|
|
G
|
Lamb2
|
laminin subunit beta 2
|
|
IEP
|
|
RGD |
PMID:19864299 |
RGD:7207449 |
NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549
|
|
G
|
Lcn2
|
lipocalin 2
|
|
IEP ISO
|
protein:increased expression:urine associated with Diabetes Mellitus,Type 2;protein:increased expression:urine:
|
RGD |
PMID:22997966 PMID:22015481 |
RGD:7245497, RGD:7245960 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
|
|
G
|
Lep
|
leptin
|
|
ISO
|
|
RGD |
PMID:22773754 |
RGD:6907074 |
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
|
|
G
|
Lepr
|
leptin receptor
|
|
ISO IAGP
|
CTD Direct Evidence: marker/mechanism DNA:mutations:cds: : (rat)
|
CTD RGD |
PMID:28130181 PMID:29988851 PMID:36066211 PMID:28746409 |
RGD:401965413 |
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
|
|
G
|
Lmna
|
lamin A/C
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :1908C>T (human)
|
RGD |
PMID:16117820 |
RGD:2306095 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
|
|
G
|
Lnpep
|
leucyl and cystinyl aminopeptidase
|
|
ISO
|
|
RGD |
PMID:1789335 |
RGD:2311543 |
NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
|
|
G
|
Lpl
|
lipoprotein lipase
|
susceptibility
|
ISO
|
|
RGD |
PMID:16813599 |
RGD:2306755 |
NCBI chr16:25,596,205...25,621,928
Ensembl chr16:20,829,465...20,855,249
|
|
G
|
Lta
|
lymphotoxin alpha
|
|
ISO
|
DNA:polymorphism
|
RGD |
PMID:18575614 |
RGD:2313255 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
|
|
G
|
Mapk1
|
mitogen activated protein kinase 1
|
|
ISO
|
|
RGD |
PMID:19923143 |
RGD:7243957 |
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
|
|
G
|
Mapk14
|
mitogen activated protein kinase 14
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activity:kidney
|
RGD |
PMID:19066844 |
RGD:2311566 |
NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589
|
|
G
|
Mdk
|
midkine
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17607302 |
|
NCBI chr 3:98,356,789...98,358,960
Ensembl chr 3:77,901,158...77,903,130
|
|
G
|
Mfn2
|
mitofusin 2
|
treatment
|
IMP ISO IEP
|
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:27997345 PMID:27997345 PMID:26123583 |
RGD:12910740, RGD:11053290 |
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
|
|
G
|
Mir145
|
microRNA 145
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24223694 |
|
NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727
|
|
G
|
Mir146a
|
microRNA 146a
|
exacerbates
|
ISO
|
|
RGD |
PMID:26647423 |
RGD:126925142 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
|
|
G
|
Mir21
|
microRNA 21
|
|
IEP
|
RNA:increased expression:kidney
|
RGD |
PMID:30847937 |
RGD:41410820 |
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
|
|
G
|
Mllt3
|
MLLT3, super elongation complex subunit
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23077601 |
RGD:9686143 |
NCBI chr 5:102,259,075...102,515,447
Ensembl chr 5:102,260,011...102,515,361
|
|
G
|
Mmp12
|
matrix metallopeptidase 12
|
|
ISO
|
|
RGD |
PMID:21277817 |
RGD:7241216 |
NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
|
|
G
|
Mmp2
|
matrix metallopeptidase 2
|
treatment ameliorates
|
IEP IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23384615 PMID:37643020 |
RGD:13204971, RGD:401827835 |
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
|
|
G
|
Mmp2em2Mcwi
|
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
|
ameliorates
|
IMP
|
|
RGD |
PMID:37643020 |
RGD:401827835 |
|
|
G
|
Mmp3
|
matrix metallopeptidase 3
|
|
ISO
|
protein: decreased expression: glomerulus
|
RGD |
PMID:9211353 |
RGD:7241249 |
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
|
|
G
|
Mmp9
|
matrix metallopeptidase 9
|
treatment
|
ISO IEP
|
associated with Diabetes Mellitus, Type 2;DNA:repeat:promoter associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:11576356 PMID:23384615 |
RGD:8547866, RGD:13204971 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
|
|
G
|
Mthfr
|
methylenetetrahydrofolate reductase
|
susceptibility no_association
|
ISO
|
associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)
|
RGD |
PMID:14737040 PMID:18280442 |
RGD:6893524, RGD:6893576 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
|
|
G
|
Mtor
|
mechanistic target of rapamycin kinase
|
susceptibility
|
ISO IDA
|
DNA:SNP,haplotype: :rs7212142(human) associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21606597 PMID:28536139 PMID:23827786 |
RGD:7245564, RGD:13506787, RGD:10003168 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
|
|
G
|
Mtrr
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
ISO
|
Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human)
|
RGD |
PMID:18774994 |
RGD:6893652 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
|
|
G
|
Nat2
|
N-acetyltransferase 2
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent
|
RGD |
PMID:10591543 |
RGD:2311598 |
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
|
|
G
|
Ndufs3
|
NADH:ubiquinone oxidoreductase core subunit S3
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney,glomerulus associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22903132 PMID:22591908 |
RGD:8552684, RGD:13792578 |
NCBI chr 3:97,332,477...97,339,654
Ensembl chr 3:76,876,646...76,883,824
|
|
G
|
Nfatc1
|
nuclear factor of activated T-cells 1
|
|
IEP
|
protein:increased expression:nucleus
|
RGD |
PMID:26481166 |
RGD:329337345 |
NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028
|
|
G
|
Nfe2l2
|
NFE2 like bZIP transcription factor 2
|
treatment
|
IDA ISO IEP
|
CTD Direct Evidence: therapeutic associated with Diabetes Mellitus, Experimental
|
CTD RGD |
PMID:20103708 PMID:21439372 PMID:23064900 |
RGD:6893386, RGD:10412718 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
|
|
G
|
Nos1
|
nitric oxide synthase 1
|
treatment
|
IDA IMP
|
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23548923 PMID:10966937 |
RGD:7257655, RGD:13824991 |
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945
|
|
G
|
Nos3
|
nitric oxide synthase 3
|
susceptibility treatment no_association
|
ISO IEP
|
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20042665 PMID:10868974 PMID:29336891 PMID:10741691 |
RGD:7421530, RGD:13504726, RGD:7421534 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
|
|
G
|
Nox4
|
NADPH oxidase 4
|
|
IEP IMP
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney cortex
|
RGD |
PMID:17511984 PMID:16135519 |
RGD:2324670, RGD:2324673 |
NCBI chr 1:150,313,736...150,491,480
Ensembl chr 1:140,901,097...141,077,406
|
|
G
|
Nphs1
|
NPHS1 adhesion molecule, nephrin
|
treatment
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;protein:decreased expression:kidney (mouse)
|
RGD |
PMID:17624267 PMID:21617141 PMID:24173355 PMID:30862474 |
RGD:38596322, RGD:7241083, RGD:38599008, RGD:38596325 |
NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078
|
|
G
|
Nppa
|
natriuretic peptide A
|
no_association disease_progression
|
ISO IEP
|
DNA:polymorphism:intron associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :2238T>C (human) associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:blood
|
RGD |
PMID:9681733 PMID:10404802 PMID:15111511 PMID:10381153 |
RGD:2313593, RGD:7247731, RGD:2313590, RGD:2313592 |
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
|
|
G
|
Nppb
|
natriuretic peptide B
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
|
RGD |
PMID:10404802 PMID:16917760 |
RGD:7247731, RGD:7248603 |
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
|
|
G
|
Nqo1
|
NAD(P)H quinone dehydrogenase 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21457706 |
RGD:11035226 |
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
|
|
G
|
Ntrk2
|
neurotrophic receptor tyrosine kinase 2
|
|
IMP
|
|
RGD |
PMID:20557422 |
RGD:4891134 |
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136
|
|
G
|
Parp1
|
poly (ADP-ribose) polymerase 1
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:20621183 |
RGD:11073737 |
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
|
|
G
|
Pax2
|
paired box 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex
|
RGD |
PMID:15149326 |
RGD:2316747 |
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
|
|
G
|
Pdgfa
|
platelet derived growth factor subunit A
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:increased expression:kidney
|
RGD |
PMID:12808179 |
RGD:2311649 |
NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497
|
|
G
|
Pdgfb
|
platelet derived growth factor subunit B
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin Dependent
|
RGD |
PMID:15067514 |
RGD:2311646 |
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
|
|
G
|
Pdgfra
|
platelet derived growth factor receptor alpha
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
|
|
G
|
Pdgfrb
|
platelet derived growth factor receptor beta
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin Dependent
|
RGD |
PMID:15067514 |
RGD:2311646 |
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
|
|
G
|
Pecam1
|
platelet and endothelial cell adhesion molecule 1
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:glomerulus
|
RGD |
PMID:15042541 |
RGD:2311655 |
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
|
|
G
|
Pgf
|
placental growth factor
|
disease_progression
|
ISO
|
associated with Diabetes Mellitus, Type 1
|
RGD |
PMID:21988672 |
RGD:6483606 |
NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685
|
|
G
|
Plat
|
plasminogen activator, tissue type
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:16598198 |
RGD:2311671 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
|
|
G
|
Plau
|
plasminogen activator, urokinase
|
|
IEP
|
mRNA:increased expression:renal glomerulus (rat)
|
RGD |
PMID:15322501 |
RGD:1580123 |
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775
|
|
G
|
Pon1
|
paraoxonase 1
|
no_association susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human) associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)
|
CTD RGD |
PMID:26884296 PMID:19207863 PMID:24100645 PMID:15270786 |
RGD:2313266, RGD:8547572, RGD:8547548 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
|
|
G
|
Pon2
|
paraoxonase 2
|
|
ISO
|
associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human) associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple
|
RGD |
PMID:11918623 PMID:11206400 |
RGD:1580218, RGD:2313492 |
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
|
|
G
|
Postn
|
periostin
|
|
ISO
|
mRNA,protein:increased expression:kidney:
|
RGD |
PMID:22167593 |
RGD:10040972 |
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
|
|
G
|
Pparg
|
peroxisome proliferator-activated receptor gamma
|
|
ISO IMP
|
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent
|
CTD RGD |
PMID:28182703 PMID:18780770 PMID:18388116 |
RGD:2301845, RGD:2301862 |
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
|
|
G
|
Ppargc1a
|
PPARG coactivator 1 alpha
|
|
ISO
|
mRNA:decreased expression:kidney (human) DNA:polymorphism:exon:p.G482S (human)
|
RGD |
PMID:21784897 PMID:19900151 |
RGD:7242027, RGD:7242045 |
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
|
|
G
|
Prkcb
|
protein kinase C, beta
|
|
IDA ISO
|
associated with hypertension;protein:increased expression:glomerular mesangium mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:12540629 PMID:35592524 |
RGD:729635, RGD:401851916 |
NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:176,832,226...177,163,536
|
|
G
|
Prkce
|
protein kinase C, epsilon
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20665664 |
|
NCBI chr 6:13,718,050...14,204,931
Ensembl chr 6:7,965,048...8,451,719
|
|
G
|
Prmt1
|
protein arginine methyltransferase 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:23159951 |
RGD:9491822 |
NCBI chr 1:104,595,339...104,605,552
Ensembl chr 1:95,458,850...95,468,345
|
|
G
|
Pros1
|
protein S
|
severity treatment
|
ISO IEP
|
associated with diabetes mellitus, experimental associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus
|
RGD |
PMID:29511111 PMID:29511111 PMID:29511111 PMID:29511111 |
RGD:13515131, RGD:13515131, RGD:13515131, RGD:13515131 |
NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286
|
|
G
|
Prss1
|
serine protease 1
|
|
ISO
|
protein:increased expression:urine
|
RGD |
PMID:18428024 |
RGD:2324899 |
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
|
|
G
|
Prss2
|
protease, serine, 2
|
|
ISO
|
protein:increased expression:urine
|
RGD |
PMID:18428024 |
RGD:2324899 |
NCBI chr 4:70,278,304...70,283,385
Ensembl chr 4:70,278,304...70,283,385
|
|
G
|
Pten
|
phosphatase and tensin homolog
|
|
IEP
|
protein:decreased expression:kidney cortex, glomerulus
|
RGD |
PMID:16804083 |
RGD:2292546 |
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
|
|
G
|
Ptgds
|
prostaglandin D2 synthase
|
susceptibility
|
ISO
|
|
RGD |
PMID:15970590 |
RGD:1642581 |
NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:8,281,899...8,284,833
|
|
G
|
Ptgs2
|
prostaglandin-endoperoxide synthase 2
|
|
IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21441310 PMID:17112505 |
RGD:5135032, RGD:5688268 |
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
|
|
G
|
Pth
|
parathyroid hormone
|
|
ISO
|
DNA:snps:exon, intron:g.350C>A, g.IVS2+56G>A (rs6256, rs6254) (human)
|
RGD |
PMID:22777106 |
RGD:7242744 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
|
|
G
|
Rbp4
|
retinol binding protein 4
|
disease_progression
|
ISO
|
associated with type 2 diabetes mellitus; protein:increased expression:blood plasma, urine (human)
|
RGD |
PMID:17568782 |
RGD:329845581 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
|
|
G
|
Rela
|
RELA proto-oncogene, NF-kB subunit
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17900838 |
|
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
|
|
G
|
Ren
|
renin
|
|
IDA
|
|
RGD |
PMID:15489960 |
RGD:1579795 |
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489
|
|
G
|
Retn
|
resistin
|
|
ISO
|
|
RGD |
PMID:21425555 |
RGD:7207159 |
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620
|
|
G
|
Rhoa
|
ras homolog family member A
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
|
|
G
|
RT1-Da
|
RT1 class II, locus Da
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
|
|
G
|
RT1-DMa
|
RT1 class II, locus DMa
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr20:4,708,932...4,712,335
Ensembl chr20:4,707,028...4,710,432
|
|
G
|
RT1-DMb
|
RT1 class II, locus DMb
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr20:4,695,009...4,702,560
Ensembl chr20:4,693,103...4,700,340
|
|
G
|
RT1-Hb-ps1
|
RT1 class II, locus Hb, pseudogene 1
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
|
|
G
|
Selp
|
selectin P
|
severity
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney, serum associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:18471420 PMID:18026823 |
RGD:2312294, RGD:2312302 |
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845
|
|
G
|
Serpinb7
|
serpin family B member 7
|
|
ISO
|
associated with Diabetes Mellitus, Type 1 associated with Diabetes Mellitus, Type 2;DNA:SNP:intron:rs1720843 (human)
|
RGD |
PMID:16443768 PMID:19690890 |
RGD:7207374, RGD:7207378 |
NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
|
|
G
|
Serpine1
|
serpin family E member 1
|
treatment
|
IEP ISO IDA
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus, mesangial cell (rat) CTD Direct Evidence: marker/mechanism associate with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
|
CTD RGD |
PMID:18682491 PMID:15322501 PMID:26712211 PMID:10809802 |
RGD:1580123, RGD:11073694, RGD:8547711 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
|
|
G
|
Serpinf1
|
serpin family F member 1
|
treatment
|
IEP ISO
|
mRNA, protein:decreased expression:renal cortex, renal medulla (rat) associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma (human) human protein in a mouse model
|
RGD |
PMID:15616035 PMID:18523656 PMID:23884140 |
RGD:1359799, RGD:8554896, RGD:8554865 |
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
|
|
G
|
Slc2a1
|
solute carrier family 2 member 1
|
treatment
|
ISO IEP
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human)
|
RGD |
PMID:15745834 PMID:22707888 PMID:26337659 |
RGD:2312305, RGD:12879861, RGD:12879466 |
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
|
|
G
|
Smad6
|
SMAD family member 6
|
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17437042 |
RGD:2289036 |
NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:64,450,114...64,519,763
|
|
G
|
Socs1
|
suppressor of cytokine signaling 1
|
treatment
|
IDA
|
|
RGD |
PMID:31599432 |
RGD:151347182 |
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383
|
|
G
|
Sod1
|
superoxide dismutase 1
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple human gene in a mouse model protein:decreased expression:kidney
|
RGD |
PMID:17914031 PMID:11522679 PMID:19470681 |
RGD:2312365, RGD:8655571, RGD:2312361 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
|
|
G
|
Sod2
|
superoxide dismutase 2
|
|
ISO
|
ClinVar Annotator: match by term: SOD2 POLYMORPHISM CTD Direct Evidence: marker/mechanism
|
ClinVar CTD RGD |
PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 PMID:17192491 PMID:24819633 PMID:17192491 More...
|
RGD:7175540 |
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
|
|
G
|
Sod3
|
superoxide dismutase 3
|
|
ISO
|
protein:decreased expression:kidney
|
RGD |
PMID:19470681 |
RGD:2312361 |
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
|
|
G
|
Sparc
|
secreted protein acidic and cysteine rich
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:kidney
|
RGD |
PMID:8569083 |
RGD:2300072 |
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
|
|
G
|
Spp1
|
secreted phosphoprotein 1
|
|
IDA
|
|
RGD |
PMID:12032186 |
RGD:1581328 |
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
|
|
G
|
Srebf1
|
sterol regulatory element binding transcription factor 1
|
|
ISO IEP
|
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney
|
RGD |
PMID:16936198 PMID:17961514 PMID:17961514 PMID:18613221 PMID:16046298 |
RGD:2308815, RGD:2308811, RGD:2308811, RGD:2308806, RGD:1581418 |
NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650
|
|
G
|
Srebf2
|
sterol regulatory element binding transcription factor 2
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney
|
RGD |
PMID:16936198 PMID:16046298 |
RGD:2308815, RGD:1581418 |
NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848
|
|
G
|
Stat3
|
signal transducer and activator of transcription 3
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22745068 |
RGD:10403082 |
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
|
|
G
|
Tcf7l2
|
transcription factor 7 like 2
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human)
|
RGD |
PMID:19506043 |
RGD:6906926 |
NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967
|
|
G
|
Tf
|
transferrin
|
|
IDA
|
|
RGD |
PMID:23468095 |
RGD:7244196 |
NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511
|
|
G
|
Tgfb1
|
transforming growth factor, beta 1
|
treatment
|
ISO IEP
|
mRNA:increased expression:glomerulus CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental
|
CTD RGD |
PMID:18682491 PMID:19960420 PMID:19211686 PMID:24074026 |
RGD:2306734, RGD:7394855 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
|
|
G
|
Tgfbi
|
transforming growth factor, beta induced
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:18682491 PMID:12911551 |
RGD:1304421 |
NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
|
|
G
|
Tgfbr2
|
transforming growth factor, beta receptor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15496156 |
|
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
|
|
G
|
Tgif1
|
TGFB-induced factor homeobox 1
|
|
IEP
|
protein:decreased expression:glomerulus (rat)
|
RGD |
PMID:15153551 |
RGD:1599409 |
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
|
|
G
|
Thbs1
|
thrombospondin 1
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17878288 |
RGD:2317941 |
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
|
|
G
|
Timp2
|
TIMP metallopeptidase inhibitor 2
|
|
IEP
|
mRNA:increased expression:kidney
|
RGD |
PMID:17491697 |
RGD:2290407 |
NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611
|
|
G
|
Tinag
|
tubulointerstitial nephritis antigen
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19634143 |
|
NCBI chr 8:77,800,031...77,885,077
Ensembl chr 8:77,800,032...77,885,077
|
|
G
|
Tlr2
|
toll-like receptor 2
|
treatment
|
ISO IEP
|
associated with Diabetes Mellitus, Experimental mRNA, protein:increased expression:kidney
|
RGD |
PMID:21617141 PMID:24739281 PMID:20628242 |
RGD:7241083, RGD:597538539, RGD:7240550 |
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
|
|
G
|
Tlr4
|
toll-like receptor 4
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22021706 |
RGD:7207902 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
|
|
G
|
Tnf
|
tumor necrosis factor
|
|
IDA IEP ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;protein:increased expression:urine
|
RGD |
PMID:16336586 PMID:12969138 PMID:21441310 PMID:16141456 |
RGD:1580208, RGD:1580296, RGD:5135032, RGD:1580311 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
|
|
G
|
Tnfaip1
|
TNF alpha induced protein 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20665664 |
|
NCBI chr10:63,417,774...63,432,466
Ensembl chr10:63,417,775...63,432,466
|
|
G
|
Tnfrsf11b
|
TNF receptor superfamily member 11B
|
disease_progression treatment
|
ISO
|
associated with Diabetes Mellitus, Type 1 associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:18719882 PMID:20727867 |
RGD:7205493, RGD:7205514 |
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538
|
|
G
|
Tnfrsf1a
|
TNF receptor superfamily member 1A
|
|
ISO
|
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Type 1;protein:increased expression:serum
|
RGD |
PMID:22042131 PMID:19073786 |
RGD:7245547, RGD:2311357 |
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
|
|
G
|
Tnfrsf1b
|
TNF receptor superfamily member 1B
|
onset
|
ISO
|
associated with Diabetes Mellitus, Type 1 associated with Diabetes Mellitus, Type 1;protein:increased expression:serum associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
|
RGD |
PMID:22266664 PMID:19073786 PMID:16408124 |
RGD:7245476, RGD:2311357, RGD:7245529 |
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
|
|
G
|
Tnfsf10
|
TNF superfamily member 10
|
|
ISO
|
protein:increased expression:kidney
|
RGD |
PMID:18287563 |
RGD:2312739 |
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
|
|
G
|
Tp53
|
tumor protein p53
|
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17901943 |
RGD:2290561 |
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
|
|
G
|
Trem1
|
triggering receptor expressed on myeloid cells 1
|
treatment
|
ISO IEP
|
protein:increased expression:kidney interstitium
|
RGD |
PMID:30478987 PMID:29331667 PMID:30478987 |
RGD:127229931, RGD:127284861, RGD:127229931 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
|
|
G
|
Trip10
|
thyroid hormone receptor interactor 10
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:26097534 |
RGD:11535148 |
NCBI chr 9:2,219,695...2,234,771
Ensembl chr 9:2,133,671...2,147,799
|
|
G
|
Trpc1
|
transient receptor potential cation channel, subfamily C, member 1
|
|
IEP
|
mRNA:decreased expression:kidney, liver
|
RGD |
PMID:18184923 |
RGD:2301838 |
NCBI chr 8:96,263,322...96,314,220
Ensembl chr 8:96,263,329...96,314,276
|
|
G
|
Trpc6
|
transient receptor potential cation channel, subfamily C, member 6
|
treatment induces
|
IDA IAGP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22673147 PMID:29923767 |
RGD:7247584, RGD:149735534 |
NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092
|
|
G
|
Trpc6em1Mcwi
|
transient receptor potential cation channel, subfamily C, member 6; CRISPR/Cas9 induced mutant 1, Medical College of Wisconsin
|
induces
|
IAGP
|
|
RGD |
PMID:29923767 |
RGD:149735534 |
|
|
G
|
Txnip
|
thioredoxin interacting protein
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17582205 |
|
NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886
|
|
G
|
Uba52
|
ubiquitin A-52 residue ribosomal protein fusion product 1
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human)
|
RGD |
PMID:17634209 |
RGD:2311211 |
NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807
|
|
G
|
Ucp1
|
uncoupling protein 1
|
no_association
|
ISO
|
DNA:SNP: :-3826A>G (human)
|
RGD |
PMID:15120704 |
RGD:7247625 |
NCBI chr19:41,713,350...41,721,421
Ensembl chr19:24,808,783...24,816,852
|
|
G
|
Ucp2
|
uncoupling protein 2
|
treatment
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22848482 |
RGD:7175295 |
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611
|
|
G
|
Uts2
|
urotensin 2
|
disease_progression
|
ISO IEP
|
mRNA:increased expression:kidney associated with Diabetes Mellitus, Type 2;protein:increased expression:urine associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney
|
RGD |
PMID:15492948 PMID:15476950 PMID:18796544 |
RGD:2306805, RGD:2306806, RGD:2306786 |
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
|
|
G
|
Uts2r
|
urotensin 2 receptor
|
|
ISO IEP
|
mRNA:increased expression:kidney associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney
|
RGD |
PMID:15492948 PMID:18796544 |
RGD:2306805, RGD:2306786 |
NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
|
|
G
|
Vcam1
|
vascular cell adhesion molecule 1
|
|
IEP ISO
|
protein:increased expression:kidney associated with Diabetes Mellitus,Type 1;protein:increased expression:plasma:
|
RGD |
PMID:23303408 PMID:20138682 |
RGD:7240523, RGD:7241237 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
|
|
G
|
Vdac1
|
voltage-dependent anion channel 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19634143 |
|
NCBI chr10:37,029,377...37,060,542
Ensembl chr10:36,532,244...36,559,640
|
|
G
|
Vdac2
|
voltage-dependent anion channel 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19634143 |
|
NCBI chr15:2,512,214...2,526,105
Ensembl chr15:2,463,056...2,476,553
|
|
G
|
Vegfa
|
vascular endothelial growth factor A
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:18630688 PMID:15610240 |
RGD:2313731 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
|
|
G
|
Vtn
|
vitronectin
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:glomerulus
|
RGD |
PMID:11728964 |
RGD:10003096 |
NCBI chr10:63,892,782...63,895,862
Ensembl chr10:63,394,719...63,397,810
|
|
G
|
Vwf
|
von Willebrand factor
|
|
ISO
|
mRNA:increased expression:nephron tubule (human)
|
RGD |
PMID:35592524 |
RGD:401851916 |
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
|
|
G
|
Xdh
|
xanthine dehydrogenase
|
treatment
|
IDA ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:22302365 PMID:19458127 |
RGD:7247644, RGD:7247651 |
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
|
|
G
|
Xylt1
|
xylosyltransferase 1
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:missense mutation:cds:p.A115S (human)
|
RGD |
PMID:17003309 |
RGD:2313138 |
NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
|
|
G
|
Yy1
|
YY1 transcription factor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:35445903 |
|
NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747
|
|
|
G
|
Adra2b
|
adrenoceptor alpha 2B
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism (human)
|
RGD |
PMID:17516297 |
RGD:2313542 |
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
treatment
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22171162 |
RGD:8695979 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
G
|
Akr1b1
|
aldo-keto reductase family 1 member B1
|
susceptibility
|
IDA ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 1;DNA:repeat:promoter:g.(CA)n (human)
|
RGD |
PMID:16900242 PMID:9489533 |
RGD:1626089, RGD:8548642 |
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
|
|
G
|
Aldh2
|
aldehyde dehydrogenase 2 family member
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:15318096 |
RGD:2311150 |
NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
|
|
G
|
Alox15
|
arachidonate 15-lipoxygenase
|
|
ISO
|
|
RGD |
PMID:20724598 |
RGD:5509623 |
NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874
|
|
G
|
Bad
|
BCL2-associated agonist of cell death
|
treatment
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:24288572 |
RGD:10053667 |
NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823
|
|
G
|
Bdkrb1
|
bradykinin receptor B1
|
|
IMP
|
|
RGD |
PMID:20587056 |
RGD:5129222 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
|
|
G
|
Bdnf
|
brain-derived neurotrophic factor
|
treatment
|
IMP IEP
|
associated with Diabetes Mellitus, Experimental associated with Experimental Diabetes Mellitus
|
RGD |
PMID:20557422 PMID:31601968 |
RGD:4891134, RGD:596948419 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
|
|
G
|
Becn1
|
beclin 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:25824552 |
RGD:11561957 |
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
|
|
G
|
Casp3
|
caspase 3
|
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:sciatic nerve CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12502508 PMID:19555701 |
RGD:2311441 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G
|
Cat
|
catalase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:10780678 |
|
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
|
|
G
|
Cav1
|
caveolin 1
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:19675140 |
RGD:8661787 |
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
|
|
G
|
Ccl5
|
C-C motif chemokine ligand 5
|
|
ISO
|
associated with Diabetes Mellitus;protein:increased expression:serum
|
RGD |
PMID:19276232 |
RGD:2307060 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
|
|
G
|
Cd63
|
Cd63 molecule
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:platelet
|
RGD |
PMID:10547212 |
RGD:2314203 |
NCBI chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178
|
|
G
|
Chrm2
|
cholinergic receptor, muscarinic 2
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:20624991 |
|
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
|
|
G
|
Cnr1
|
cannabinoid receptor 1
|
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:18810243 |
RGD:2314631 |
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
|
|
G
|
Epo
|
erythropoietin
|
|
ISO
|
associated with Diabetes Mellitus, Experimental;
|
RGD |
PMID:14718663 |
RGD:2313898 |
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
|
|
G
|
F7
|
coagulation factor VII
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human)
|
RGD |
PMID:10468085 |
RGD:2312401 |
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
|
|
G
|
Fgf2
|
fibroblast growth factor 2
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:16644707 |
RGD:2315860 |
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
|
|
G
|
Fto
|
FTO, alpha-ketoglutarate dependent dioxygenase
|
susceptibility
|
ISO
|
associated with type 2 diabetes mellitus;DNA:SNP: :rs17817449 (human)
|
RGD |
PMID:29154870 |
RGD:329813082 |
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
|
|
G
|
Ggt1
|
gamma-glutamyltransferase 1
|
|
ISO
|
associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum
|
RGD |
PMID:11311965 |
RGD:2315614 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
|
|
G
|
Ghrl
|
ghrelin and obestatin prepropeptide
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:19733151 |
RGD:2313744 |
NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
|
|
G
|
Grm5
|
glutamate metabotropic receptor 5
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19840219 |
|
NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274
|
|
G
|
Hgf
|
hepatocyte growth factor
|
|
ISO
|
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: therapeutic
|
CTD RGD |
PMID:26000320 PMID:15734864 |
RGD:2313570 |
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
|
|
G
|
Hhip
|
Hedgehog-interacting protein
|
|
IEP
|
|
RGD |
PMID:19515211 |
RGD:11552601 |
NCBI chr19:44,768,038...44,856,878
Ensembl chr19:27,863,213...27,952,528
|
|
G
|
Ifng
|
interferon gamma
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :874A>T (human)
|
RGD |
PMID:19608431 |
RGD:2311489 |
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
treatment
|
IMP ISO
|
associated with Diabetes Mellitus, Experimental protein:decreased expression:serum
|
RGD |
PMID:19264110 PMID:18545223 PMID:17194636 |
RGD:2306687, RGD:8549454, RGD:2313764 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Il1b
|
interleukin 1 beta
|
treatment
|
IEP
|
|
RGD |
PMID:23280817 |
RGD:7401217 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
|
|
G
|
Insr
|
insulin receptor
|
|
IDA ISO
|
associated with Diabetes Mellitus, Experimental;protein:decreased phosphorylation:sciatic nerve CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:18331706 PMID:18331706 |
RGD:2307344 |
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
|
|
G
|
Lepr
|
leptin receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24263156 |
|
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
|
|
G
|
Lrrk2
|
leucine-rich repeat kinase 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell
|
RGD |
PMID:24810053 |
RGD:13462056 |
NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703
|
|
G
|
Mapk14
|
mitogen activated protein kinase 14
|
|
IDA
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:18579738 |
RGD:2311567 |
NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589
|
|
G
|
Mbp
|
myelin basic protein
|
|
IEP
|
associated with Diabetes Mellitus, Experimental; protein:decreased expression:sciatic nerve:
|
RGD |
PMID:23735240 |
RGD:7327194 |
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
|
|
G
|
Mir497
|
microRNA 497
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:35478295 |
|
NCBI chr10:54,951,514...54,951,582
Ensembl chr10:54,951,505...54,951,584
|
|
G
|
Mme
|
membrane metallo-endopeptidase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20148083 |
|
NCBI chr 2:149,806,826...149,957,381
Ensembl chr 2:147,722,086...147,803,792
|
|
G
|
Mmp2
|
matrix metallopeptidase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20213226 |
|
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
|
|
G
|
Mmp9
|
matrix metallopeptidase 9
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20213226 |
|
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
|
|
G
|
Mpz
|
myelin protein zero
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22158827 |
RGD:9685782 |
NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679
|
|
G
|
Ngf
|
nerve growth factor
|
|
IEP
|
mRNA,protein:decreased expression:sciatic nerve
|
RGD |
PMID:12469361 |
RGD:5508379 |
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
|
|
G
|
Ngfr
|
nerve growth factor receptor
|
|
IEP
|
mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe)
|
RGD |
PMID:12469361 |
RGD:5508379 |
NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518
|
|
G
|
Nos2
|
nitric oxide synthase 2
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:18802679 |
RGD:2313218 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
|
|
G
|
Nrg1
|
neuregulin 1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:24288572 |
RGD:10053667 |
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884
|
|
G
|
Ntf3
|
neurotrophin 3
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:11779407 |
|
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596
|
|
G
|
Ntrk1
|
neurotrophic receptor tyrosine kinase 1
|
|
IEP
|
mRNA,protein:decreased expression:dorsal root ganglia
|
RGD |
PMID:12469361 |
RGD:5508379 |
NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770
|
|
G
|
Ntrk2
|
neurotrophic receptor tyrosine kinase 2
|
treatment
|
IEP
|
associated with Experimental Diabetes Mellitus
|
RGD |
PMID:31601968 |
RGD:596948419 |
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136
|
|
G
|
Parp1
|
poly (ADP-ribose) polymerase 1
|
|
ISO
|
|
RGD |
PMID:17976390 PMID:21978940 |
RGD:5510012, RGD:5683915 |
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
|
|
G
|
Pgf
|
placental growth factor
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21056561 |
RGD:6483583 |
NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685
|
|
G
|
Plat
|
plasminogen activator, tissue type
|
|
ISO
|
|
RGD |
PMID:17636064 |
RGD:2311667 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
|
|
G
|
Ptgs2
|
prostaglandin-endoperoxide synthase 2
|
|
IMP IEP
|
mRNA, protein:increased expression:peripheral nerve
|
RGD |
PMID:17720896 PMID:21951301 |
RGD:1642588, RGD:5508311 |
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
|
|
G
|
Retn
|
resistin
|
|
ISO
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:17919381 |
RGD:7207161 |
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620
|
|
G
|
Sgk1
|
serum/glucocorticoid regulated kinase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16696316 |
|
NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:22,980,261...23,098,283
|
|
G
|
Sord
|
sorbitol dehydrogenase
|
resistance
|
IDA
|
|
RGD |
PMID:15755558 |
RGD:1601362 |
NCBI chr 3:129,638,282...129,669,727
Ensembl chr 3:109,184,676...109,216,133
|
|
G
|
Srebf1
|
sterol regulatory element binding transcription factor 1
|
|
IEP
|
associated with Diabetes Mellitus, Insulin-Dependent
|
RGD |
PMID:19423844 |
RGD:2308808 |
NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650
|
|
G
|
Tgfb1
|
transforming growth factor, beta 1
|
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16696316 PMID:18406405 |
RGD:2302086 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
|
|
G
|
Tgfb2
|
transforming growth factor, beta 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion
|
RGD |
PMID:18406405 |
RGD:2302086 |
NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
|
|
G
|
Tgfb3
|
transforming growth factor, beta 3
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve
|
RGD |
PMID:18406405 |
RGD:2302086 |
NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:105,704,236...105,726,564
|
|
G
|
Tlr4
|
toll-like receptor 4
|
susceptibility
|
ISO IDA
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms: :p.N299G, p.T399I (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental;
|
CTD RGD |
PMID:14693986 PMID:14693986 PMID:22910613 |
RGD:2312493, RGD:7777098 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
|
|
G
|
Tnf
|
tumor necrosis factor
|
treatment
|
IEP
|
|
RGD |
PMID:23280817 |
RGD:7401217 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
|
|
G
|
Trpa1
|
transient receptor potential cation channel, subfamily A, member 1
|
|
IMP
|
|
RGD |
PMID:22133672 |
RGD:10043378 |
NCBI chr 5:9,163,060...9,217,325
Ensembl chr 5:4,379,999...4,433,570
|
|
G
|
Ucp2
|
uncoupling protein 2
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-866G>A (rs659366)(human)
|
RGD |
PMID:16373902 |
RGD:2313516 |
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611
|
|
G
|
Ucp3
|
uncoupling protein 3
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-55C>T (human)
|
RGD |
PMID:16373902 |
RGD:2313516 |
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
|
|
G
|
Usp15
|
ubiquitin specific peptidase 15
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:35478295 |
|
NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721
|
|
G
|
Vcam1
|
vascular cell adhesion molecule 1
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:19414982 |
RGD:2312761 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
|
|
G
|
Vegfa
|
vascular endothelial growth factor A
|
treatment
|
ISO
|
associated with Diabetes Mellitus, Experimental;
|
RGD |
PMID:26201024 |
RGD:11079183 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
|
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
|
ISO
|
protein:increased expression:sural nerve
|
RGD |
PMID:17427284 |
RGD:597621673 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
|
G
|
Ace
|
angiotensin I converting enzyme
|
susceptibility no_association
|
ISO
|
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human) associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human) associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
|
GAD RGD |
PMID:15118671 PMID:2157294 PMID:23065222 PMID:7729604 PMID:11106834 |
RGD:1331525, RGD:8142360, RGD:7829794, RGD:7829780, RGD:7829783 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
|
|
G
|
Ace2
|
angiotensin converting enzyme 2
|
treatment
|
ISO
|
associated with Diabetes Mellitus, Experimental human gene in a mouse model CTD Direct Evidence: therapeutic
|
CTD RGD |
PMID:31380462 PMID:21792177 PMID:31380462 |
RGD:8548900, RGD:40818278 |
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:30,293,589...30,340,977
|
|
G
|
Acp1
|
acid phosphatase 1
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent
|
RGD |
PMID:12495297 |
RGD:2313184 |
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
|
|
G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
disease_progression
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human) associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
|
RGD |
PMID:24655058 PMID:17970779 |
RGD:8694412, RGD:8694475 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
|
|
G
|
Adm
|
adrenomedullin
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
|
RGD |
PMID:19216096 |
RGD:2313312 |
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
|
|
G
|
Adrb3
|
adrenoceptor beta 3
|
|
ISO
|
associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human)
|
RGD |
PMID:9313761 |
RGD:5684400 |
NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
no_association treatment severity susceptibility
|
ISO IDA IEP
|
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human) associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human) associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human) associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human) associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human) protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat) associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human) associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human) associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
|
GAD RGD |
PMID:15118671 PMID:22427038 PMID:22171162 PMID:22116960 PMID:11375354 PMID:14704946 PMID:16969646 PMID:16969646 PMID:23146804 PMID:23587252 PMID:22475522 PMID:19542745 PMID:23091285 More...
|
RGD:1331525, RGD:8695983, RGD:8695979, RGD:8695967, RGD:8695966, RGD:8695965, RGD:8695958, RGD:8695958, RGD:7244369, RGD:7244248, RGD:7244176, RGD:7244175, RGD:7244174 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
G
|
Agt
|
angiotensinogen
|
treatment
|
ISO IMP
|
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental
|
CTD RGD |
PMID:15387897 PMID:10862638 PMID:21792177 |
RGD:8548872, RGD:8548900 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
|
|
G
|
Agtr1a
|
angiotensin II receptor, type 1a
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16601577 |
|
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
|
|
G
|
Akr1b1
|
aldo-keto reductase family 1 member B1
|
no_association susceptibility
|
IDA IEP ISO
|
associated with Diabetes Mellitus, Experimental protein:increased expression:retinal astrocyte (rat) associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human) associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human) associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)
|
RGD |
PMID:17003340 PMID:8150024 PMID:21067572 PMID:16701918 PMID:19587357 |
RGD:1626080, RGD:8548684, RGD:8548676, RGD:8548668, RGD:8548640 |
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
|
|
G
|
Akt1
|
AKT serine/threonine kinase 1
|
|
IEP
|
mRNA, protein:increased expression:retina
|
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
|
|
G
|
Ang
|
angiogenin
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor
|
RGD |
PMID:18978347 |
RGD:2307061 |
NCBI chr15:26,786,233...26,796,883
|
|
G
|
Angpt1
|
angiopoietin 1
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:12000720 |
RGD:2313818 |
NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067
|
|
G
|
Angpt2
|
angiopoietin 2
|
|
IEP IDA
|
protein:increased expression:retina (rat)
|
RGD |
PMID:16520919 PMID:16520919 |
RGD:2314216, RGD:2314216 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
|
|
G
|
Aoc3
|
amine oxidase, copper containing 3
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
|
RGD |
PMID:11522499 |
RGD:2313826 |
NCBI chr10:86,272,757...86,280,702
|
|
G
|
Apoa4
|
apolipoprotein A4
|
|
ISO
|
protein:increased expression:vitreous humor (human)
|
RGD |
PMID:19081814 |
RGD:5685692 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
|
|
G
|
Apob
|
apolipoprotein B
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:19448981 |
RGD:2313976 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
|
|
G
|
Apoc3
|
apolipoprotein C3
|
severity
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:15642486 |
RGD:2306768 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
|
|
G
|
Apoe
|
apolipoprotein E
|
susceptibility no_association
|
ISO
|
associated with Diabetic Mellitus type 2;DNA:polymorphism:exon:
|
RGD |
PMID:16862278 PMID:11495633 |
RGD:7771557, RGD:7771553 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
|
|
G
|
Apoh
|
apolipoprotein H
|
|
ISO
|
protein:increased expression:vitreous humor
|
RGD |
PMID:18695102 |
RGD:2313982 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
|
|
G
|
Aqp4
|
aquaporin 4
|
|
IMP
|
|
RGD |
PMID:22449442 |
RGD:8695996 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
|
|
G
|
Atg7
|
autophagy related 7
|
|
IEP ISO
|
associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina
|
RGD |
PMID:32272782 PMID:32272782 |
RGD:407571700, RGD:407571700 |
NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593
|
|
G
|
Bdkrb1
|
bradykinin receptor B1
|
treatment
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:18311190 |
RGD:2313334 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
|
|
G
|
Bdnf
|
brain-derived neurotrophic factor
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina:
|
RGD |
PMID:15331553 |
RGD:8655657 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
|
|
G
|
Becn1
|
beclin 1
|
|
IEP ISO
|
associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina
|
RGD |
PMID:32272782 PMID:32272782 |
RGD:407571700, RGD:407571700 |
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
|
|
G
|
Casp3
|
caspase 3
|
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent
|
CTD RGD |
PMID:20654064 PMID:19187597 PMID:19013511 |
RGD:2311444, RGD:2311448 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G
|
Casp9
|
caspase 9
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina
|
RGD |
PMID:18369072 |
RGD:2311244 |
Ensembl chr 5:154,109,046...154,126,626
|
|
G
|
Cat
|
catalase
|
|
IEP
|
protein:decreased expression:retina
|
RGD |
PMID:21314438 |
RGD:5130875 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
|
|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat)
|
RGD |
PMID:23010641 |
RGD:8548887 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
|
|
G
|
Ccl5
|
C-C motif chemokine ligand 5
|
severity
|
ISO
|
protein:increased expression:serum associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
|
RGD |
PMID:16249511 PMID:18978347 |
RGD:2307104, RGD:2307061 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
|
|
G
|
Ccn2
|
cellular communication network factor 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)
|
RGD |
PMID:19450451 |
RGD:2314507 |
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
|
|
G
|
Ccr5
|
C-C motif chemokine receptor 5
|
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:22677420 |
RGD:8551828 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
|
|
G
|
Cd34
|
CD34 molecule
|
|
IEP
|
mRNA, protein:increased expression:retina
|
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832
|
|
G
|
Cd59b
|
CD59b molecule
|
|
IEP
|
protein:decreased expression:retina
|
RGD |
PMID:12453906 |
RGD:1600487 |
NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847
|
|
G
|
Cdkal1
|
CDK5 regulatory subunit associated protein 1-like 1
|
disease_progression
|
ISO
|
DNA:SNP:intron: (rs7756992) (human)
|
RGD |
PMID:28821857 |
RGD:401850599 |
NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524
|
|
G
|
Cfb
|
complement factor B
|
no_association
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human) associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
|
RGD |
PMID:23864767 PMID:23864767 |
RGD:7365019, RGD:7365019 |
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
|
|
G
|
Cfh
|
complement factor H
|
|
ISO
|
associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human) associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human)
|
RGD |
PMID:23864767 PMID:23296223 |
RGD:7365019, RGD:7365023 |
NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
|
|
G
|
Cldn1
|
claudin 1
|
treatment
|
IEP
|
|
RGD |
PMID:25685822 |
RGD:11341734 |
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
|
|
G
|
Clu
|
clusterin
|
treatment
|
ISO
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:19875648 |
RGD:9068395 |
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
|
|
G
|
Crp
|
C-reactive protein
|
|
ISO
|
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20012460 PMID:20012460 |
RGD:8547537 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
|
|
G
|
Cxcl10
|
C-X-C motif chemokine ligand 10
|
|
ISO
|
|
RGD |
PMID:17194635 |
RGD:2311361 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
|
|
G
|
Cxcl12
|
C-X-C motif chemokine ligand 12
|
severity
|
ISO
|
protein:increased expression:vitreous humor
|
RGD |
PMID:15630447 |
RGD:2306559 |
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
|
|
G
|
Cyba
|
cytochrome b-245 alpha chain
|
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:19685553 |
RGD:2317854 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
|
|
G
|
Dll4
|
delta like canonical Notch ligand 4
|
severity
|
ISO
|
mRNA,protein:increased expression:retina:
|
RGD |
PMID:30787185 PMID:34362349 |
RGD:155663348, RGD:155663356 |
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
|
|
G
|
Edn1
|
endothelin 1
|
|
ISO IEP
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human) mRNA:increased expression:retina (rat) associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma
|
RGD |
PMID:18806884 PMID:20628425 PMID:19293263 |
RGD:2313281, RGD:9068929, RGD:2313279 |
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
|
|
G
|
Egfr
|
epidermal growth factor receptor
|
treatment
|
ISO
|
protein:increased expression:retina associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:7947554 PMID:23831329 |
RGD:1580957, RGD:10059675 |
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
|
|
G
|
Eln
|
elastin
|
|
ISO
|
|
RGD |
PMID:11707314 |
RGD:9585734 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
|
|
G
|
Eng
|
endoglin
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body
|
RGD |
PMID:16202216 |
RGD:1580961 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
|
|
G
|
Ep300
|
E1A binding protein p300
|
|
IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21885871 |
RGD:7349382 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
|
|
G
|
Epo
|
erythropoietin
|
susceptibility
|
ISO
|
protein:increased expression:serum,vitreous body associated with Diabetes Mellitus, Experimental DNA:snp:promoter:-1125T>G(rs1617640)(human)
|
RGD |
PMID:18670462 PMID:24508793 PMID:18235022 PMID:18458324 |
RGD:2313837, RGD:10400906, RGD:2313890, RGD:2313838 |
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
|
|
G
|
F13a1
|
coagulation factor XIII A1 chain
|
|
ISO
|
protein:increased expression:optic choroid vascular plexus:
|
RGD |
PMID:11375345 |
RGD:8693344 |
NCBI chr17:28,021,197...28,197,960
Ensembl chr17:27,815,702...27,992,700
|
|
G
|
F3
|
coagulation factor III, tissue factor
|
|
ISO
|
protein:increased expression:aqueous humor,serum
|
RGD |
PMID:12417540 |
RGD:2313865 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
|
|
G
|
F7
|
coagulation factor VII
|
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
|
RGD |
PMID:10837382 |
RGD:2312398 |
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
|
|
G
|
Fgf2
|
fibroblast growth factor 2
|
|
ISO IEP
|
associated with Pregnancy in Diabetics DNA:polymorphism:intron:g.754C>G(human) DNA:polymorphism:promotor:g.-553T>A(human) associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:9141532 PMID:17997184 PMID:18279437 PMID:14975211 |
RGD:2315885, RGD:2315845, RGD:2315844, RGD:2315875 |
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
|
|
G
|
Flt1
|
Fms related receptor tyrosine kinase 1
|
treatment
|
ISO IEP
|
|
RGD |
PMID:17143550 PMID:18174522 |
RGD:2313721, RGD:10402119 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
|
|
G
|
Fuca1
|
alpha-L-fucosidase 1
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;protein:increased activity:retina
|
RGD |
PMID:10353622 |
RGD:2315932 |
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
|
|
G
|
Gad2
|
glutamate decarboxylase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21412422 |
|
NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
|
|
G
|
Gapdh
|
glyceraldehyde-3-phosphate dehydrogenase
|
|
IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:18852331 |
RGD:2315975 |
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
|
|
G
|
Gc
|
GC, vitamin D binding protein
|
|
ISO
|
protein:increased expression:vitreous body
|
RGD |
PMID:16080911 |
RGD:2315548 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
|
|
G
|
Ggt1
|
gamma-glutamyltransferase 1
|
|
ISO
|
associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum
|
RGD |
PMID:11311965 |
RGD:2315614 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
|
|
G
|
Gh1
|
growth hormone 1
|
|
ISO
|
|
RGD |
PMID:3183302 |
RGD:2315688 |
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
|
|
G
|
Glo1
|
glyoxalase 1
|
no_association
|
ISO
|
DNA:SNP:promoter:-7C>T (human)
|
RGD |
PMID:21738003 PMID:21738003 |
RGD:7242569, RGD:7242569 |
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
|
|
G
|
Glul
|
glutamate-ammonia ligase
|
treatment
|
IEP
|
associated with Experimental Diabetes Mellitus
|
RGD |
PMID:34133251 |
RGD:401794594 |
NCBI chr13:68,519,500...68,585,554
Ensembl chr13:66,025,630...66,035,108
|
|
G
|
Gstm1
|
glutathione S-transferase mu 1
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)
|
RGD |
PMID:19752172 |
RGD:7495818 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
|
|
G
|
Gstt1
|
glutathione S-transferase theta 1
|
disease_progression no_association
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human) associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)
|
RGD |
PMID:15927971 PMID:19752172 |
RGD:2306630, RGD:7495818 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
|
|
G
|
Hes1
|
hes family bHLH transcription factor 1
|
|
ISO
|
mRNA:increased expression:retina:
|
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192
|
|
G
|
Hey2
|
hes-related family bHLH transcription factor with YRPW motif 2
|
|
ISO
|
mRNA:increased expression:retina:
|
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:26,822,131...26,832,218
|
|
G
|
Hfe
|
homeostatic iron regulator
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)
|
RGD |
PMID:15347835 |
RGD:8694362 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
|
|
G
|
Hgf
|
hepatocyte growth factor
|
disease_progression
|
ISO
|
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
|
RGD |
PMID:18335393 PMID:15525877 |
RGD:2313565, RGD:8548539 |
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
|
|
G
|
Hif1a
|
hypoxia inducible factor 1 subunit alpha
|
severity treatment
|
ISO IDA IEP
|
protein:increased expression:retina, vascular endothelial cell (human) associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat)
|
RGD |
PMID:17229797 PMID:20515763 PMID:22110070 |
RGD:8694462, RGD:8696025, RGD:7364887 |
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
|
|
G
|
Hras
|
HRas proto-oncogene, GTPase
|
|
IDA
|
|
RGD |
PMID:14988264 |
RGD:1358731 |
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
|
|
G
|
Icam1
|
intercellular adhesion molecule 1
|
treatment
|
ISO IEP
|
CTD Direct Evidence: therapeutic associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)
|
CTD RGD |
PMID:10485912 PMID:18834676 PMID:25066112 PMID:18942221 |
RGD:2313472, RGD:11354984, RGD:2313471 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
susceptibility
|
ISO
|
protein:decreased expression:serum
|
RGD |
PMID:16873705 PMID:17194636 |
RGD:1598424, RGD:2313764 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Igf1r
|
insulin-like growth factor 1 receptor
|
disease_progression
|
IEP
|
mRNA:increased expression:retina:
|
RGD |
PMID:12781065 |
RGD:10046008 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
|
|
G
|
Il10
|
interleukin 10
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:18978347 PMID:22105495 PMID:18988929 PMID:16696964 |
RGD:2307061, RGD:7364856, RGD:2307272, RGD:1598486 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
|
|
G
|
Il18
|
interleukin 18
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
|
RGD |
PMID:19011009 PMID:16260350 |
RGD:4889417, RGD:8655907 |
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
|
|
G
|
Il1a
|
interleukin 1 alpha
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
|
RGD |
PMID:18978347 |
RGD:2307061 |
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
|
|
G
|
Il1b
|
interleukin 1 beta
|
|
ISO
|
associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor protein:increased expression:serum, vitreous humour
|
RGD |
PMID:18978347 PMID:16284605 |
RGD:2307061, RGD:7401212 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
|
|
G
|
Il6
|
interleukin 6
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human) associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum: associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
|
RGD |
PMID:19140096 PMID:19542902 PMID:17725274 PMID:18988929 |
RGD:2307267, RGD:7829816, RGD:7829749, RGD:2307272 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
|
|
G
|
Ins2
|
insulin 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:30463601 PMID:22046295 |
RGD:6902909 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
|
|
G
|
Insr
|
insulin receptor
|
|
ISS
|
|
MouseDO |
|
|
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
|
|
G
|
Itga2
|
integrin subunit alpha 2
|
severity no_association susceptibility
|
ISO
|
associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human) associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human) associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human) associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)
|
RGD |
PMID:12540964 PMID:21632096 PMID:18806884 PMID:23776381 |
RGD:2307419, RGD:8686431, RGD:2313281, RGD:7777103 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
|
|
G
|
Itga4
|
integrin subunit alpha 4
|
treatment
|
IMP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:19553613 |
RGD:9698417 |
NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715
|
|
G
|
Itgam
|
integrin subunit alpha M
|
|
IEP
|
mRNA, protein:increased expression:retina (rat)
|
RGD |
PMID:33614447 |
RGD:329901937 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
|
|
G
|
Itgb3
|
integrin subunit beta 3
|
|
ISO
|
protein:increased expression:optic choroid vascular plexus:
|
RGD |
PMID:11375345 |
RGD:8693344 |
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679
|
|
G
|
Jag1
|
jagged canonical Notch ligand 1
|
|
ISO
|
mRNA,protein:increased expression:retina:
|
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
|
|
G
|
Kcnj10
|
potassium inwardly-rectifying channel, subfamily J, member 10
|
treatment
|
IDA IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:21672350 PMID:22143324 |
RGD:8662869, RGD:8662907 |
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
|
|
G
|
Kdm1a
|
lysine demethylase 1A
|
|
IEP ISO
|
mRNA, protein:increased expression:retina (rat) mRNA:increased expression:retina (human)
|
RGD |
PMID:23423566 PMID:23423566 PMID:23423566 |
RGD:8547881, RGD:8547881, RGD:8547881 |
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
|
|
G
|
Keap1
|
Kelch-like ECH-associated protein 1
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina
|
RGD |
PMID:23633659 |
RGD:10412733 |
NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862
|
|
G
|
Lta
|
lymphotoxin alpha
|
no_association susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human)
|
RGD |
PMID:16979413 PMID:11399938 |
RGD:8548772, RGD:8548797 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
|
|
G
|
Mesp1
|
mesoderm posterior bHLH transcription factor 1
|
|
ISO
|
associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human)
|
RGD |
PMID:33221518 |
RGD:242905212 |
NCBI chr 1:143,147,671...143,149,189
Ensembl chr 1:133,738,357...133,739,875
|
|
G
|
Mfn2
|
mitofusin 2
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat)
|
RGD |
PMID:28487236 |
RGD:12910715 |
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
|
|
G
|
Mir126b
|
microRNA 126b
|
ameliorates
|
IEP IDA
|
RNA:decreased expression:serum,retina
|
RGD |
PMID:33416109 PMID:33416109 |
RGD:401850543, RGD:401850543 |
NCBI chr 3:9,415,087...9,415,159
|
|
G
|
Mir17
|
microRNA 17
|
treatment
|
ISO
|
|
RGD |
PMID:33333415 |
RGD:329349303 |
NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712
|
|
G
|
Mir21
|
microRNA 21
|
|
IEP
|
RNA:increased expression:retina
|
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
|
|
G
|
Mir320a
|
microRNA 320a
|
|
ISO
|
miRNA:decreased expression:blood plasma (human)
|
RGD |
PMID:32178730 |
RGD:155882566 |
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
|
|
G
|
Mmp2
|
matrix metallopeptidase 2
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:12714657 PMID:18552985 |
RGD:1582582, RGD:8547849 |
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
|
|
G
|
Mmp9
|
matrix metallopeptidase 9
|
disease_progression
|
ISO
|
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:16643893 PMID:21933988 PMID:10374894 |
RGD:1582616, RGD:8547857, RGD:8547815 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
|
|
G
|
Mthfr
|
methylenetetrahydrofolate reductase
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)
|
RGD |
PMID:9040583 |
RGD:6893525 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
|
|
G
|
Mysm1
|
myb-like, SWIRM and MPN domains 1
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human)
|
RGD |
PMID:21310492 |
RGD:9589162 |
NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967
|
|
G
|
Nfe2l2
|
NFE2 like bZIP transcription factor 2
|
|
IDA
|
associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina
|
RGD |
PMID:23633659 |
RGD:10412733 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
|
|
G
|
Ngf
|
nerve growth factor
|
|
ISO IMP
|
protein:increased expression:serum associated with Experimental Diabetes Mellitus
|
RGD |
PMID:18282491 PMID:24030532 |
RGD:7242804, RGD:405100241 |
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
|
|
G
|
Nos1
|
nitric oxide synthase 1
|
|
IEP
|
mRNA, protein:decreased expression:retina
|
RGD |
PMID:17545029 |
RGD:1642141 |
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945
|
|
G
|
Nos3
|
nitric oxide synthase 3
|
no_association susceptibility treatment severity onset
|
ISO IDA IEP
|
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human) associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat) DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human) associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human)
|
RGD |
PMID:16581274 PMID:23776381 PMID:22017289 PMID:17558849 PMID:18840783 PMID:23059402 PMID:20435587 PMID:15890549 PMID:17973941 PMID:11918626 More...
|
RGD:7421531, RGD:7777103, RGD:7777101, RGD:7775042, RGD:7771606, RGD:7771569, RGD:7771568, RGD:7771565, RGD:7421533, RGD:7421532 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
|
|
G
|
Notch1
|
notch receptor 1
|
treatment
|
ISO
|
|
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
|
|
G
|
Nppa
|
natriuretic peptide A
|
|
ISO
|
protein:increased expression:vitreous humor
|
RGD |
PMID:15273657 |
RGD:2313589 |
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
|
|
G
|
Npr3
|
natriuretic peptide receptor 3
|
|
IEP
|
mRNA:decreased expression:retina (rat)
|
RGD |
PMID:15789000 |
RGD:1580773 |
NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955
|
|
G
|
Nr3c1
|
nuclear receptor subfamily 3, group C, member 1
|
|
IEP
|
associated with Experimental Diabetes Mellitus;protein:altered expression:retina
|
RGD |
PMID:37904673 |
RGD:408364965 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
|
|
G
|
Nrp1
|
neuropilin 1
|
treatment
|
ISO
|
|
RGD |
PMID:26554379 |
RGD:401901170 |
NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633
|
|
G
|
Nutf2
|
nuclear transport factor 2
|
treatment
|
ISO IDA
|
mRNA:decreased expression:peripheral blood:
|
RGD |
PMID:19404486 PMID:19404486 |
RGD:9831377, RGD:9831377 |
NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
|
|
G
|
Ocln
|
occludin
|
treatment
|
IEP
|
|
RGD |
PMID:25685822 |
RGD:11341734 |
NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:31,657,220...31,764,150
|
|
G
|
Pf4
|
platelet factor 4
|
|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:23352833 |
RGD:329901846 |
NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365
|
|
G
|
Pgf
|
placental growth factor
|
|
IEP
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:21408222 |
RGD:6483775 |
NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685
|
|
G
|
Pik3cg
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
|
|
IEP
|
mRNA, protein:increased expression:retina
|
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
|
|
G
|
Plk4
|
polo-like kinase 4
|
treatment
|
IEP
|
|
RGD |
PMID:33416109 |
RGD:401850543 |
NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:123,802,512...123,820,942
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|
G
|
Pon1
|
paraoxonase 1
|
susceptibility
|
ISO
|
DNA:polymorphism:promoter:g.-907C>G (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human) associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
|
CTD RGD |
PMID:9661650 PMID:20012460 PMID:16949520 PMID:24100645 PMID:15270786 PMID:20012460 More...
|
RGD:2313272, RGD:8547572, RGD:8547548, RGD:8547537 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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|
G
|
Pparg
|
peroxisome proliferator-activated receptor gamma
|
|
ISO
|
Retinal Leukostasis;associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:17003451 |
RGD:8552824 |
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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|
G
|
Ppargc1a
|
PPARG coactivator 1 alpha
|
|
IDA IEP
|
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)
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RGD |
PMID:20566666 PMID:22003111 |
RGD:6484532, RGD:5686899 |
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
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|
G
|
Pten
|
phosphatase and tensin homolog
|
|
IEP
|
mRNA, protein:decreased expression:retina
|
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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|
G
|
Rbp4
|
retinol binding protein 4
|
severity
|
ISO
|
protein:increased expression:blood plasma (human)
|
RGD |
PMID:30135138 |
RGD:329849110 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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|
G
|
Retn
|
resistin
|
|
ISO
|
associated with Diabetes Mellitus, Type 2
|
RGD |
PMID:17303077 |
RGD:7207162 |
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620
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|
G
|
Robo1
|
roundabout guidance receptor 1
|
|
IEP
|
mRNA,protein:increased expression:retina
|
RGD |
PMID:28973045 |
RGD:243048421 |
NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203
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|
G
|
RT1-Bb
|
RT1 class II, locus Bb
|
susceptibility severity
|
ISO
|
associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human) DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human)
|
RGD |
PMID:19551681 PMID:8932997 |
RGD:7421552, RGD:7483573 |
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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|
G
|
RT1-CE13
|
RT1 class I, locus CE13
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human)
|
RGD |
PMID:22981956 |
RGD:7365095 |
NCBI chr20:3,314,491...3,322,815
|
|
G
|
RT1-Db1
|
RT1 class II, locus Db1
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus Type 1;DNA:polymorphism::DRB1*0301,DRB1*0402(human)
|
RGD |
PMID:23837223 |
RGD:7365113 |
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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|
G
|
Serpina4
|
serpin family A member 4
|
|
ISO
|
protein:decreased expression:vitreous fluid (human)
|
RGD |
PMID:8950506 |
RGD:1580289 |
NCBI chr 6:128,764,738...128,773,858
Ensembl chr 6:122,999,900...123,009,082
|
|
G
|
Serpine1
|
serpin family E member 1
|
susceptibility no_association
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human) associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human) associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
|
RGD |
PMID:23281898 PMID:19419896 PMID:7974340 PMID:9201602 PMID:12660488 |
RGD:8547697, RGD:8547741, RGD:8547740, RGD:8547710, RGD:8547699 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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|
G
|
Serpinf1
|
serpin family F member 1
|
severity
|
ISO IEP
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human) protein:increased expression:vitreous humor associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum protein:alternative form:vitreous humor
|
RGD |
PMID:17658465 PMID:15059706 PMID:18025835 PMID:16054135 PMID:18455830 PMID:19365032 More...
|
RGD:2312346, RGD:1580135, RGD:2312344, RGD:2312348, RGD:2312341, RGD:2312337 |
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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|
G
|
Sgf29
|
SAGA complex associated factor 29
|
severity
|
ISO
|
associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human)
|
RGD |
PMID:21441570 |
RGD:9587455 |
NCBI chr 1:181,238,458...181,271,931
Ensembl chr 1:181,238,468...181,274,781
|
|
G
|
Sirt1
|
sirtuin 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24894401 |
|
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
|
|
G
|
Slit2
|
slit guidance ligand 2
|
|
IEP
|
mRNA,protein:increased expression:retina
|
RGD |
PMID:28973045 |
RGD:243048421 |
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
|
|
G
|
Sod1
|
superoxide dismutase 1
|
|
ISO
|
human gene in a mouse model CTD Direct Evidence: therapeutic
|
CTD RGD |
PMID:19074809 PMID:19074809 |
RGD:8655572 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
|
|
G
|
Sod3
|
superoxide dismutase 3
|
|
ISO
|
|
RGD |
PMID:12663605 |
RGD:1581298 |
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
|
|
G
|
Stra6
|
signaling receptor and transporter of retinol STRA6
|
treatment
|
ISO
|
associated with type 2 diabetes mellitus
|
RGD |
PMID:30096827 |
RGD:155631301 |
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
|
|
G
|
Tgfbr2
|
transforming growth factor, beta receptor 2
|
|
ISO
|
ClinVar Annotator: match by term: Diabetic retinopathy
|
ClinVar |
PMID:9536098 PMID:15731757 PMID:16799921 PMID:17576681 PMID:21270064 PMID:24033266 PMID:25741868 PMID:25944730 PMID:28162229 PMID:28492532 PMID:28679693 PMID:29510914 PMID:30222965 PMID:32528524 PMID:34572573 More...
|
|
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
|
|
G
|
Thbs1
|
thrombospondin 1
|
|
IEP ISO
|
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:17117553 PMID:17117553 |
RGD:2317943 |
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
|
|
G
|
Timm44
|
translocase of inner mitochondrial membrane 44
|
|
IEP
|
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina
|
RGD |
PMID:22003103 |
RGD:13463597 |
NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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|
G
|
Tlr4
|
toll-like receptor 4
|
onset
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human)
|
RGD |
PMID:19135114 |
RGD:2312487 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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|
G
|
Tnf
|
tumor necrosis factor
|
no_association disease_progression
|
ISO
|
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human) protein:increased expression:serum, vitreous humour associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:
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RGD |
PMID:22105495 PMID:16979413 PMID:16284605 PMID:10540181 |
RGD:7364856, RGD:8548772, RGD:7401212, RGD:7394805 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
|
|
G
|
Uts2
|
urotensin 2
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
|
RGD |
PMID:18338983 |
RGD:2306795 |
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
|
|
G
|
Vcam1
|
vascular cell adhesion molecule 1
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum
|
RGD |
PMID:19237221 |
RGD:2312762 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
|
|
G
|
Vdr
|
vitamin D receptor
|
|
ISO
|
|
RGD |
PMID:15899948 |
RGD:1580363 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
|
|
G
|
Vegfa
|
vascular endothelial growth factor A
|
|
ISO IEP
|
mRNA, protein:increased expression:retina CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:
|
CTD RGD |
PMID:11978667 PMID:15788408 PMID:20577866 PMID:17513698 PMID:31759996 PMID:9852717 PMID:16636650 More...
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RGD:2301992, RGD:41410819, RGD:8547996, RGD:1580565 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
|
|
G
|
Vps26a
|
VPS26 retromer complex component A
|
susceptibility
|
ISO
|
DNA:SNP:: (rs1802295) (Human)
|
RGD |
PMID:28821857 |
RGD:401850599 |
NCBI chr20:30,404,320...30,434,266
Ensembl chr20:30,404,325...30,434,131
|
|
G
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Vtn
|
vitronectin
|
|
ISO IEP
|
associated with Diabetes Mellitus, Experimental
|
RGD |
PMID:7536680 PMID:8804356 |
RGD:1580818, RGD:10040982 |
NCBI chr10:63,892,782...63,895,862
Ensembl chr10:63,394,719...63,397,810
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|
G
|
Vwf
|
von Willebrand factor
|
|
ISO
|
|
RGD |
PMID:10077454 |
RGD:1580648 |
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
|
|
G
|
Wfs1
|
wolframin ER transmembrane glycoprotein
|
susceptibility
|
ISO
|
DNA:SNP:: (rs10010131) (Human)
|
RGD |
PMID:28821857 |
RGD:401850599 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
|
|
G
|
Xrcc1
|
X-ray repair cross complementing 1
|
susceptibility
|
ISO
|
DNA:SNP:cd: p.R399Q G>A (rs25487) (human)
|
RGD |
PMID:30472145 |
RGD:401827275 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
|
|
|
G
|
Insr
|
insulin receptor
|
|
ISO
|
ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:1315125 PMID:1607067 PMID:1657953 PMID:1730625 PMID:2002058 PMID:2040394 PMID:2211730 PMID:2300553 PMID:2365819 PMID:2479553 PMID:2834824 PMID:2983222 PMID:3280314 PMID:7042734 PMID:7657032 PMID:7693131 PMID:7815442 PMID:8101305 PMID:8188715 PMID:8257688 PMID:8314008 PMID:8326490 PMID:8419945 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:11463381 PMID:12023989 PMID:12970295 PMID:18411068 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:24498630 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:28765322 PMID:29369573 PMID:30663027 PMID:31989990 PMID:35000900 More...
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|
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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|
|
G
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Aacs
|
acetoacetyl-CoA synthetase
|
|
IDA
|
protein:decreased activity:liver
|
RGD |
PMID:12034369 |
RGD:2301022 |
NCBI chr12:36,774,471...36,817,835
Ensembl chr12:31,113,098...31,160,954
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|
G
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Aanat
|
aralkylamine N-acetyltransferase
|
|
IEP
|
|
RGD |
PMID:18624957 |
RGD:2301030 |
NCBI chr10:101,827,072...101,831,805
Ensembl chr10:101,827,301...101,831,801
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|
G
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Abat
|
4-aminobutyrate aminotransferase
|
|
IDA
|
|
RGD |
PMID:9846053 |
RGD:1598518 |
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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|
G
|
Abcb1a
|
ATP binding cassette subfamily B member 1A
|
disease_progression treatment
|
IAGP IEP IDA
|
protein: decreased expression mRNA:increased expression:brain mRNA:increased expression:ileum, intestinal mucosa (rat)
|
RGD |
PMID:17074306 PMID:17664251 PMID:26460146 PMID:21685928 |
RGD:1598559, RGD:2312730, RGD:11041112, RGD:8657121 |
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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|
G
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Abcb1b
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ATP-binding cassette, sub-family B member 1B
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disease_progression
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IDA IEP
|
mRNA:increased expression:brain mRNA:increased expression:ileum, intestinal mucosa (rat)
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RGD |
PMID:17074306 PMID:17664251 PMID:26460146 |
RGD:1598559, RGD:2312730, RGD:11041112 |
NCBI chr 4:26,197,706...26,280,156
Ensembl chr 4:25,242,798...25,325,199
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G
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Abcb4
|
ATP binding cassette subfamily B member 4
|
|
IDA
|
|
RGD |
PMID:12055592 |
RGD:1598588 |
NCBI chr 4:26,106,895...26,164,440
Ensembl chr 4:25,151,953...25,209,202
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|
G
|
Abcc2
|
ATP binding cassette subfamily C member 2
|
|
IEP
|
protein: increased expression mRNA:decreased expression:liver mRNA: increased expression: brain
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RGD |
PMID:19356064 PMID:20487213 PMID:17664251 |
RGD:2312728, RGD:11541075, RGD:2312730 |
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
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|
G
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Abcc3
|
ATP binding cassette subfamily C member 3
|
|
IEP
|
mRNA:increased expression:liver
|
RGD |
PMID:20487213 |
RGD:11541075 |
NCBI chr10:79,793,571...79,839,528
Ensembl chr10:79,296,693...79,342,595
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|
G
|
Abcc9
|
ATP binding cassette subfamily C member 9
|
|
IEP
|
mRNA, protein:decreased expression:heart
|
RGD |
PMID:22257425 |
RGD:12792003 |
NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:175,532,547...175,655,356
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G
|
Abcg2
|
ATP binding cassette subfamily G member 2
|
|
IEP
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protein:decreased expression:cerebral cortex
|
RGD |
PMID:17915193 |
RGD:2315584 |
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
|
|
G
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Abcg5
|
ATP binding cassette subfamily G member 5
|
|
IEP
|
|
RGD |
PMID:14618236 |
RGD:1558629 |
NCBI chr 6:15,717,936...15,743,376
Ensembl chr 6:9,965,118...9,990,563
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|
G
|
Abcg8
|
ATP binding cassette subfamily G member 8
|
|
IEP
|
|
RGD |
PMID:14618236 |
RGD:1558629 |
NCBI chr 6:15,698,448...15,717,730
Ensembl chr 6:9,945,629...9,964,912
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|
G
|
Acaa1a
|
acetyl-CoA acyltransferase 1A
|
|
IEP
|
mRNA:increased expression:heart
|
RGD |
PMID:17632588 |
RGD:2313044 |
NCBI chr 8:127,956,126...127,966,348
Ensembl chr 8:119,079,775...119,088,624
|
|
G
|
Acadvl
|
acyl-CoA dehydrogenase, very long chain
|
|
ISO
|
protein:decreased expression:brain
|
RGD |
PMID:25260493 |
RGD:10047114 |
NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075
|
|
G
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Ace
|
angiotensin I converting enzyme
|
|
IEP ISO
|
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:22191573 PMID:18679036 |
RGD:2313799 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
|
|
G
|
Ace2
|
angiotensin converting enzyme 2
|
|
IEP
|
protein:altered expression:kidney
|
RGD |
PMID:18679036 |
RGD:2313799 |
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:30,293,589...30,340,977
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|
G
|
Ache
|
acetylcholinesterase
|
treatment
|
IEP IDA
|
protein:increased expression:blood
|
RGD |
PMID:1385785 PMID:19303406 PMID:19296211 PMID:19347982 |
RGD:2312437, RGD:2312430, RGD:2312432, RGD:150517552 |
NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651
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|
G
|
Acmsd
|
aminocarboxymuconate semialdehyde decarboxylase
|
treatment
|
IDA IEP
|
|
RGD |
PMID:12042425 PMID:19169727 |
RGD:13831125, RGD:13831126 |
NCBI chr13:39,200,412...39,245,954
Ensembl chr13:39,200,314...39,245,209
|
|
G
|
Acot1
|
acyl-CoA thioesterase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14563825 |
|
NCBI chr 6:109,367,274...109,375,268
Ensembl chr 6:103,636,041...103,644,163
|
|
G
|
Acot2
|
acyl-CoA thioesterase 2
|
|
IEP
|
protein:increased expression:heart, mitochondrion (rat)
|
RGD |
PMID:17438340 |
RGD:2315861 |
NCBI chr 6:109,341,426...109,352,818
Ensembl chr 6:103,611,544...103,619,245
|
|
G
|
Acox1
|
acyl-CoA oxidase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14563825 |
|
NCBI chr10:101,905,083...101,930,136
Ensembl chr10:101,406,197...101,431,232
|
|
G
|
Acp5
|
acid phosphatase 5, tartrate resistant
|
|
IEP
|
protein:increased activity:femoral bone (rat)
|
RGD |
PMID:19699734 |
RGD:2315882 |
NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:20,663,985...20,667,929
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G
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Acsl1
|
acyl-CoA synthetase long-chain family member 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:9452481 |
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NCBI chr16:52,487,870...52,554,110
Ensembl chr16:45,755,254...45,821,541
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G
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Acsl3
|
acyl-CoA synthetase long-chain family member 3
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|
IEP
|
|
RGD |
PMID:21136146 |
RGD:13831298 |
NCBI chr 9:87,563,601...87,613,078
Ensembl chr 9:80,115,112...80,164,627
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G
|
Acsl6
|
acyl-CoA synthetase long-chain family member 6
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IEP
|
mRNA:decreased expression:heart
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RGD |
PMID:16428347 |
RGD:1599808 |
NCBI chr10:38,940,668...38,999,515
Ensembl chr10:38,440,080...38,498,757
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G
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Ada
|
adenosine deaminase
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|
IEP ISO
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protein:increased expression:platelet
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RGD |
PMID:19166862 PMID:9784839 |
RGD:2313538, RGD:2313540 |
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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G
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Adcyap1
|
adenylate cyclase activating polypeptide 1
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|
IEP
|
protein:increased expression:pancreas, hypothalamus
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RGD |
PMID:9864055 |
RGD:2325314 |
NCBI chr 9:120,550,236...120,569,096
Ensembl chr 9:113,103,718...113,109,773
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G
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Adipoq
|
adiponectin, C1Q and collagen domain containing
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|
IEP ISO
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mRNA, protein:decreased expression:adipose tissue, serum protein:increased expression:retina
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RGD |
PMID:16201273 PMID:23174569 |
RGD:1599146, RGD:8694416 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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G
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Adipor2
|
adiponectin receptor 2
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no_association
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IDA ISO
|
|
RGD |
PMID:17884446 PMID:19220660 PMID:18222103 |
RGD:2312495, RGD:2312478, RGD:2312488 |
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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G
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Adk
|
adenosine kinase
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IEP
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protein:decreased expression:spleen, lymphocyte
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RGD |
PMID:12729803 |
RGD:2313360 |
NCBI chr15:2,912,543...3,295,745
Ensembl chr15:2,863,244...3,246,510
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G
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Adm
|
adrenomedullin
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|
IEP
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protein:increased expression:pigmented epithelial cell, retina
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RGD |
PMID:16955796 |
RGD:1625296 |
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
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G
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Adora1
|
adenosine A1 receptor
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treatment
|
IDA ISO IEP
|
associated with hypertension protein:decreased expression:hippocampus
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RGD |
PMID:11593763 PMID:9597368 PMID:19276628 PMID:16256246 |
RGD:2313808, RGD:1625365, RGD:2313804, RGD:2313805 |
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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G
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Adora2a
|
adenosine A2a receptor
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IEP
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protein:increased expression:hippocampus
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RGD |
PMID:16256246 |
RGD:2313805 |
NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,853...13,333,386
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G
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Adra1a
|
adrenoceptor alpha 1A
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|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:19133277 PMID:17054657 |
RGD:1625775 |
NCBI chr15:45,005,648...45,111,416
Ensembl chr15:40,832,534...40,927,500
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G
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Adrb1
|
adrenoceptor beta 1
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IEP
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protein:decreased expression:left ventricle muscular part
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RGD |
PMID:21054861 |
RGD:5129115 |
NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259
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G
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Adrb3
|
adrenoceptor beta 3
|
|
IEP ISO
|
protein:increased expression:left ventricle muscular part CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:17622774 PMID:21054861 |
RGD:5129115 |
NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
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G
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Adsl
|
adenylosuccinate lyase
|
|
IEP
|
protein:increased activity:heart (rat)
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RGD |
PMID:3360219 |
RGD:1598762 |
NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
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G
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Adss1
|
adenylosuccinate synthase 1
|
|
IEP
|
protein:increased activity:heart (rat)
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RGD |
PMID:3360219 |
RGD:1598762 |
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
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G
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Ager
|
advanced glycosylation end product-specific receptor
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treatment
|
IEP IDA ISO
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protein:increased expression:lacrimal gland mRNA:increased expression:renal cortex (mouse)
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RGD |
PMID:16283249 PMID:34018385 PMID:22476978 PMID:21458563 PMID:20801062 |
RGD:1625335, RGD:597621665, RGD:7245558, RGD:7244188, RGD:7243964 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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G
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Agt
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angiotensinogen
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15831366 PMID:17177138 PMID:18829990 |
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NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G
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Agtr2
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angiotensin II receptor, type 2
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IEP
|
mRNA, protein:decreased expression:kidney
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RGD |
PMID:12172324 |
RGD:6903861 |
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
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G
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Aifm1
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apoptosis inducing factor, mitochondria associated 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23499715 |
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NCBI chr X:132,528,107...132,567,237
Ensembl chr X:127,650,226...127,689,256
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G
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Aire
|
autoimmune regulator
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susceptibility
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ISO
|
|
RGD |
PMID:18399912 |
RGD:2306853 |
NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,636,123...10,651,060
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G
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Akr1b1
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aldo-keto reductase family 1 member B1
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IEP
|
mRNA:increased expression:kidney (rat)
|
RGD |
PMID:8204669 |
RGD:8548781 |
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
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G
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Akt1
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AKT serine/threonine kinase 1
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treatment
|
IDA IEP
|
protein:decreased serine phosphorylation:cornea protein:increased serine phosphorylation:cortex of kidney
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RGD |
PMID:21330660 PMID:29379801 PMID:18599524 |
RGD:5131482, RGD:408346751, RGD:8657153 |
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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G
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Alad
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aminolevulinate dehydratase
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susceptibility treatment
|
IEP IDA ISO
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protein:decreased activity:liver, kidney (rat) protein:decreased activity:liver, erythrocyte (rat) protein:decreased activity:blood, liver
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RGD |
PMID:19043199 PMID:10224671 PMID:18668330 PMID:21864646 PMID:24947461 PMID:7728901 More...
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RGD:4144150, RGD:15039405, RGD:12904704, RGD:12904702, RGD:12904692, RGD:12904683 |
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G
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Alas1
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5'-aminolevulinate synthase 1
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IEP
|
protein:decreased activity:liver (rat)
|
RGD |
PMID:6688350 |
RGD:4144808 |
NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917
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G
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Aldob
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aldolase, fructose-bisphosphate B
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IEP
|
mRNA:reduced expression:liver, small intestine (rat)
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RGD |
PMID:2984252 |
RGD:2313437 |
NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:63,889,046...63,902,116
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|
G
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Andpro
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androgen regulated protein
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|
IEP
|
protein:decreased expression:corpus cavernosum penis (rat)
|
RGD |
PMID:20007950 |
RGD:14696816 |
NCBI chr 3:136,718,601...136,725,131
Ensembl chr 3:136,718,602...136,724,966
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G
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Angpt1
|
angiopoietin 1
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|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:15047628 PMID:17294737 |
RGD:2313817, RGD:1626163 |
NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067
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G
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Angpt2
|
angiopoietin 2
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IEP
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protein:increased expression:retina
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RGD |
PMID:15047628 |
RGD:2313817 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G
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Angptl3
|
angiopoietin-like 3
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|
ISO
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protein:increased expression:liver
|
RGD |
PMID:15094378 |
RGD:2314234 |
NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
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G
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Anxa1
|
annexin A1
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IEP
|
protein:increased glycation:respiratory system blood vessel endothelium
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RGD |
PMID:11423489 |
RGD:2306888 |
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
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G
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Anxa2
|
annexin A2
|
|
IEP
|
protein:increased glycation:respiratory system blood vessel endothelium
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RGD |
PMID:11423489 |
RGD:2306888 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G
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Aoc1
|
amine oxidase, copper containing 1
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IEP
|
|
RGD |
PMID:1632778 |
RGD:2312809 |
NCBI chr 4:79,143,126...79,162,705
Ensembl chr 4:77,812,260...77,831,840
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G
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Aoc3
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amine oxidase, copper containing 3
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|
ISO IEP IMP
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CTD Direct Evidence: marker/mechanism protein:increased expression:kidney, serum
|
CTD RGD |
PMID:14977883 PMID:12606817 PMID:2218072 PMID:19635478 |
RGD:2313824, RGD:2313828, RGD:2313819 |
NCBI chr10:86,272,757...86,280,702
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G
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Apoa1
|
apolipoprotein A1
|
treatment
|
IDA
|
|
RGD |
PMID:17488882 |
RGD:7241577 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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G
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Apob
|
apolipoprotein B
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|
IEP
|
|
RGD |
PMID:17292734 |
RGD:1642185 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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|
G
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Apoe
|
apolipoprotein E
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|
IEP
|
protein:decreased expression:plasma (rat)
|
RGD |
PMID:16947119 |
RGD:1599198 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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|
G
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Apom
|
apolipoprotein M
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|
ISO
|
protein:decreased secretion:plasma
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RGD |
PMID:16516154 |
RGD:2314249 |
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
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|
G
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Aprt
|
adenine phosphoribosyl transferase
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|
IEP
|
protein:decreased activity:mammary gland (rat)
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RGD |
PMID:2451510 |
RGD:1599204 |
NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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|
G
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Aqp1
|
aquaporin 1
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|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:19596320 |
RGD:2316078 |
NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690
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|
G
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Aqp2
|
aquaporin 2
|
|
IEP ISO
|
protein:increased expression:Kidney Medulla protein:decreased expression:kidney collecting duct
|
RGD |
PMID:11380083 PMID:15705184 |
RGD:2314347, RGD:2314326 |
NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
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G
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Aqp4
|
aquaporin 4
|
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IEP
|
mRNA,protein:increased expression:retina:
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RGD |
PMID:22449442 |
RGD:8695996 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G
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Ar
|
androgen receptor
|
treatment
|
ISO IEP
|
protein:decreased expression:pancreatic B cell mRNA, protein:decreased expression:epididymis, prostate gland, testis
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RGD |
PMID:18543106 PMID:31838605 PMID:16398356 |
RGD:2306772, RGD:407424618, RGD:2306774 |
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
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|
G
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Arg1
|
arginase 1
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IEP
|
protein:increased expression:aorta, liver (rat)
|
RGD |
PMID:17967788 |
RGD:4142848 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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|
G
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Arg2
|
arginase 2
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|
IEP
|
protein:increased activity:kidney (rat)
|
RGD |
PMID:12841630 |
RGD:4143269 |
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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|
G
|
Aspa
|
aspartoacylase
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|
ISO
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protein:increased expression:duodenum, brain
|
RGD |
PMID:16707098 |
RGD:1601247 |
NCBI chr10:58,390,204...58,443,790
Ensembl chr10:57,892,104...57,945,272
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G
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Ass1
|
argininosuccinate synthase 1
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|
IEP
|
mRNA, protein:increased expression:aorta (rat)
|
RGD |
PMID:11384198 |
RGD:1599310 |
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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G
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Atf3
|
activating transcription factor 3
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
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NCBI chr13:105,274,103...105,331,653
Ensembl chr13:102,751,321...102,764,631
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G
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Atg7
|
autophagy related 7
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treatment
|
ISO IEP
|
protein:decreased expression:myocardium
|
RGD |
PMID:24874076 PMID:24993523 |
RGD:11557993, RGD:11557996 |
NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593
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G
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Atp2a1
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ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
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IEP
|
|
RGD |
PMID:28483572 |
RGD:12910731 |
NCBI chr 1:190,457,198...190,475,410
Ensembl chr 1:181,026,608...181,044,838
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G
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Atp2a2
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ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
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|
IDA IEP ISO
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protein:increased carbonylation:heart CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:21300842 PMID:20122173 PMID:28483572 |
RGD:6904139, RGD:13782130, RGD:12910731 |
NCBI chr12:39,733,519...39,782,942
Ensembl chr12:34,072,683...34,122,101
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G
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Atp2a3
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ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
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|
ISO IEP
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:20122173 |
RGD:13782130 |
NCBI chr10:58,079,710...58,111,279
Ensembl chr10:57,582,128...57,612,748
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|
G
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Atp4b
|
ATPase H+/K+ transporting subunit beta
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|
IEP
|
|
RGD |
PMID:20237950 |
RGD:14696743 |
NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063
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|
G
|
Atp5f1a
|
ATP synthase F1 subunit alpha
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|
IEP
|
protein:decreased expression:cerebral cortex, mitochondrion (rat)
|
RGD |
PMID:28526935 |
RGD:13703047 |
NCBI chr18:73,567,537...73,575,473
Ensembl chr18:71,292,374...71,300,794
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|
G
|
Atp5f1b
|
ATP synthase F1 subunit beta
|
|
IEP
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associated with polycystic ovary syndrome;mRNA, protein:decreased expression:pancreas (rat)
|
RGD |
PMID:28397049 |
RGD:13703107 |
NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:515,460...567,273
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|
G
|
Atp5pd
|
ATP synthase peripheral stalk subunit d
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|
IEP
|
protein:decreased expression:retina (rat)
|
RGD |
PMID:17465459 |
RGD:5147874 |
NCBI chr10:101,156,673...101,161,926
Ensembl chr10:100,657,708...100,663,479
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G
|
Atp5pf
|
ATP synthase peripheral stalk subunit F6
|
treatment
|
IEP
|
|
RGD |
PMID:28731155 |
RGD:13800891 |
NCBI chr11:37,368,045...37,375,721
Ensembl chr11:23,881,592...23,889,119
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|
G
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Avp
|
arginine vasopressin
|
|
ISO
|
mRNA:increased expression:hypothalamus
|
RGD |
PMID:18420743 |
RGD:2301919 |
NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:117,793,457...117,795,425
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|
G
|
Bad
|
BCL2-associated agonist of cell death
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|
IDA
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protein:increased expression, decreased phosphorylation, altered activity:testis protein:decreased serine phosphorylation:cornea
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RGD |
PMID:17870134 PMID:21330660 |
RGD:2292685, RGD:5131482 |
NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823
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|
G
|
Bax
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BCL2 associated X, apoptosis regulator
|
treatment
|
IEP ISO
|
protein:increased expression:retina CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:23090186 PMID:18991018 PMID:23267840 |
RGD:2311240, RGD:10054099 |
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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|
G
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Bche
|
butyrylcholinesterase
|
|
IDA
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protein:decreased expression:retina
|
RGD |
PMID:11478742 PMID:12379509 PMID:16187484 |
RGD:2306783, RGD:2306781, RGD:1599458 |
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
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|
G
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Bckdha
|
branched chain keto acid dehydrogenase E1 subunit alpha
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|
IEP
|
protein:increased expression:liver
|
RGD |
PMID:9460082 |
RGD:1599467 |
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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|
G
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Bckdhb
|
branched chain keto acid dehydrogenase E1 subunit beta
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|
IEP
|
Protein:increased expression:liver;
|
RGD |
PMID:9460082 |
RGD:1599467 |
NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
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|
G
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Bcl2
|
BCL2, apoptosis regulator
|
|
IEP ISO
|
protein:increased expression:retina CTD Direct Evidence: marker/mechanism mRNA:decreased expression:embryo
|
CTD RGD |
PMID:16959961 PMID:23090186 PMID:18991018 PMID:15649569 |
RGD:2311240, RGD:1599491 |
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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|
G
|
Bcl2l1
|
Bcl2-like 1
|
|
IDA ISO
|
protein:decreased expression, altered activity:testis CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16959961 PMID:17870134 |
RGD:2292685 |
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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|
G
|
Bdh1
|
3-hydroxybutyrate dehydrogenase 1
|
|
IEP
|
protein:decreased activity:heart, mitochondrion (rat)
|
RGD |
PMID:3548709 |
RGD:2326100 |
NCBI chr11:82,806,125...82,848,133
Ensembl chr11:69,302,534...69,337,671
|
|
G
|
Bdkrb1
|
bradykinin receptor B1
|
|
IEP ISO IDA
|
mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:21430409 PMID:12489796 PMID:20092893 PMID:12522068 |
RGD:704379, RGD:7241569, RGD:704380 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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|
G
|
Bdkrb2
|
bradykinin receptor B2
|
|
IEP
|
protein:increased expression:hindbrain, spinal cord mRNA:increased expression:heart
|
RGD |
PMID:16138314 PMID:12489796 |
RGD:4890452, RGD:704379 |
NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497
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|
G
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Bdnf
|
brain-derived neurotrophic factor
|
treatment
|
IEP
|
|
RGD |
PMID:24857910 PMID:30816461 |
RGD:10059399, RGD:596936233 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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|
G
|
Becn1
|
beclin 1
|
treatment
|
IEP
|
|
RGD |
PMID:24993523 |
RGD:11557996 |
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
|
|
G
|
Bglap
|
bone gamma-carboxyglutamate protein
|
|
IEP
|
protein:reduced expression:serum (rat)
|
RGD |
PMID:19494718 |
RGD:2316184 |
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495
|
|
G
|
Bmal1
|
basic helix-loop-helix ARNT like 1
|
|
IEP
|
|
RGD |
PMID:18624957 |
RGD:2301030 |
NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:167,331,633...167,430,231
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|
G
|
Bmpr2
|
bone morphogenetic protein receptor type 2
|
|
IEP
|
protein:increased expression:lung
|
RGD |
PMID:21521772 |
RGD:5135278 |
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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|
G
|
Btc
|
betacellulin
|
|
ISO
|
|
RGD |
PMID:14988244 PMID:19819964 PMID:18388935 |
RGD:1357906, RGD:2313774, RGD:2306965 |
NCBI chr14:16,992,668...17,031,178
Ensembl chr14:16,707,982...16,747,049
|
|
G
|
Cacng4
|
calcium voltage-gated channel auxiliary subunit gamma 4
|
|
IEP
|
mRNA:decreased expression:sinoatrial node:
|
RGD |
PMID:27096430 |
RGD:13524560 |
NCBI chr10:93,183,410...93,245,470
Ensembl chr10:92,683,761...92,746,126
|
|
G
|
Cad
|
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
|
|
IEP
|
protein:decreased activity:mammary gland (rat)
|
RGD |
PMID:1476792 |
RGD:5132591 |
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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|
G
|
Calca
|
calcitonin-related polypeptide alpha
|
|
IEP
|
protein:increased expression:penis erectile tissue, seminal vesicle protein:decreased expression:dorsal root ganglion, neuron
|
RGD |
PMID:19152794 PMID:17151309 |
RGD:2314033, RGD:2314035 |
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105
|
|
G
|
Cald1
|
caldesmon 1
|
|
IEP
|
|
RGD |
PMID:10644879 |
RGD:2314036 |
NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
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|
G
|
Capn10
|
calpain 10
|
|
IEP
|
mRNA, protein:decreased expression:kidney cortex
|
RGD |
PMID:22568896 |
RGD:7247732 |
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
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|
G
|
Carhsp1
|
calcium regulated heat stable protein 1
|
treatment
|
IEP
|
|
RGD |
PMID:19997081 |
RGD:39128203 |
NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
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|
G
|
Casp1
|
caspase 1
|
|
IEP
|
mRNA:increased expression:retina
|
RGD |
PMID:18398369 |
RGD:2315888 |
NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383
|
|
G
|
Casp3
|
caspase 3
|
treatment
|
IEP ISO
|
protein:increased activity:hypothalamus CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20654064 PMID:19094082 PMID:28843149 |
RGD:2311447, RGD:13782300 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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|
G
|
Casp6
|
caspase 6
|
|
IDA
|
protein:increased activity:heart left ventricle
|
RGD |
PMID:15662549 |
RGD:2301316 |
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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|
G
|
Casp8
|
caspase 8
|
treatment
|
ISO IEP
|
protein:increased expression, increased activity:pituitary gland protein:increased activity, increased expression:pituitary gland, prolactin secreting cell
|
RGD |
PMID:17563067 PMID:28843149 PMID:19540304 PMID:15976052 |
RGD:2311429, RGD:13782300, RGD:2311427, RGD:2311319 |
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
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|
G
|
Casp9
|
caspase 9
|
|
IEP
|
protein:increased activity, increased expression:pituitary gland
|
RGD |
PMID:15976052 |
RGD:2311319 |
Ensembl chr 5:154,109,046...154,126,626
|
|
G
|
Casq1
|
calsequestrin 1
|
|
IEP
|
protein:increased activity:skeletal muscle tissue
|
RGD |
PMID:11976916 |
RGD:2314137 |
NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
|
|
G
|
Casr
|
calcium-sensing receptor
|
|
IEP
|
protein:increased expression:pancreas, liver, kidney (rat)
|
RGD |
PMID:22844268 |
RGD:7205442 |
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811
|
|
G
|
Cat
|
catalase
|
|
IEP ISO
|
associated with alcohol use disorder; protein:decreased activity;testis, epididymis (rat) CTD Direct Evidence: marker/mechanism|therapeutic
|
CTD RGD |
PMID:12123627 PMID:15855331 PMID:20709041 PMID:20376213 PMID:25541261 |
RGD:5130772, RGD:405255664 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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|
G
|
Cav1
|
caveolin 1
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:18266981 PMID:25086377 |
RGD:10045572 |
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
|
|
G
|
Cav3
|
caveolin 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18266981 |
|
NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
|
|
G
|
Cbr1
|
carbonyl reductase 1
|
|
IEP
|
protein:decreased expression:pancreas (rat)
|
RGD |
PMID:18452227 |
RGD:2302233 |
NCBI chr11:46,346,405...46,348,815
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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|
G
|
Cck
|
cholecystokinin
|
|
IDA
|
|
RGD |
PMID:15536283 |
RGD:2313638 |
NCBI chr 8:130,031,012...130,037,702
Ensembl chr 8:121,153,500...121,160,084
|
|
G
|
Cckbr
|
cholecystokinin B receptor
|
|
IEP
|
mRNA, protein:decreased expression:pancreas
|
RGD |
PMID:15161757 |
RGD:1358452 |
NCBI chr 1:169,183,578...169,193,583
Ensembl chr 1:159,771,733...159,814,881
|
|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
treatment
|
IEP IDA
|
protein:increased expression:gingiva protein:increased expression:plasma
|
RGD |
PMID:17876613 PMID:16891764 PMID:18976114 |
RGD:2306992, RGD:8549535, RGD:2306984 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
|
|
G
|
Ccl20
|
C-C motif chemokine ligand 20
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:21340626 |
|
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
|
|
G
|
Ccn1
|
cellular communication network factor 1
|
|
ISO
|
mRNA:increased expression:retina (mouse)
|
RGD |
PMID:22160564 |
RGD:329845551 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
|
|
G
|
Ccn2
|
cellular communication network factor 2
|
treatment
|
IEP
|
mRNA, protein:increased expression:heart, myocardium (rat) mRNA:increased expression:heart left ventricle (rat)
|
RGD |
PMID:19820199 PMID:34018385 PMID:19625611 |
RGD:2314021, RGD:597621665, RGD:2314487 |
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
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|
G
|
Ccna2
|
cyclin A2
|
|
IEP
|
|
RGD |
PMID:20031167 |
RGD:2316310 |
NCBI chr 2:121,355,363...121,361,762
Ensembl chr 2:119,426,089...119,433,577
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|
G
|
Ccnb1
|
cyclin B1
|
|
IEP
|
mRNA:decreased expression:liver (rat)
|
RGD |
PMID:20031167 |
RGD:2316310 |
NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:31,912,193...31,921,172
|
|
G
|
Ccnd3
|
cyclin D3
|
|
IEP
|
protein:increased expression:kidney, glomerulus
|
RGD |
PMID:19276076 |
RGD:2316018 |
NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371
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|
G
|
Ccnt1
|
cyclin T1
|
|
IEP
|
mRNA,protein:decreased expression:liver:
|
RGD |
PMID:20828602 |
RGD:9698426 |
NCBI chr 7:129,687,146...129,718,080
Ensembl chr 7:129,691,209...129,717,871
|
|
G
|
Ccr5
|
C-C motif chemokine receptor 5
|
|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:21575160 |
RGD:11533943 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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|
G
|
Cd28
|
Cd28 molecule
|
|
ISO
|
|
RGD |
PMID:11160314 |
RGD:2307200 |
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
|
|
G
|
Cd36
|
CD36 molecule
|
treatment
|
IEP
|
mRNA:increased expression:multiple organs
|
RGD |
PMID:16838191 PMID:23691525 |
RGD:2307214, RGD:11041145 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
|
|
G
|
Cd3e
|
CD3 epsilon subunit of T-cell receptor complex
|
|
ISO
|
|
RGD |
PMID:16628253 |
RGD:2314179 |
NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:45,303,852...45,315,022
|
|
G
|
Cd40lg
|
CD40 ligand
|
treatment
|
ISO IEP
|
protein:increased expression:platelet (rat)
|
RGD |
PMID:21831422 PMID:19237211 |
RGD:11352661, RGD:2312338 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
|
|
G
|
Cd68
|
Cd68 molecule
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20388520 |
|
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697
|
|
G
|
Cd80
|
Cd80 molecule
|
|
ISO
|
|
RGD |
PMID:11160314 |
RGD:2307200 |
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
|
|
G
|
Cd86
|
CD86 molecule
|
|
ISO
|
|
RGD |
PMID:8993020 |
RGD:2313930 |
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
|
|
G
|
Cdk9
|
cyclin-dependent kinase 9
|
|
IEP
|
mRNA,protein:decreased expression:liver:
|
RGD |
PMID:20828602 |
RGD:9698426 |
NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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|
G
|
Cdkn1a
|
cyclin-dependent kinase inhibitor 1A
|
|
IEP
|
protein:increased expression:testes:
|
RGD |
PMID:24828139 |
RGD:8662307 |
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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|
G
|
Cel
|
carboxyl ester lipase
|
|
IEP
|
protein:decreased expression:pancreas,
|
RGD |
PMID:8446851 |
RGD:2313971 |
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
|
|
G
|
Cfd
|
complement factor D
|
|
IEP
|
protein:decreased expression:serum
|
RGD |
PMID:8372111 |
RGD:1624344 |
NCBI chr 7:10,463,773...10,465,496
Ensembl chr 7:9,813,150...9,815,053
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|
G
|
Cftr
|
CF transmembrane conductance regulator
|
severity
|
ISO
|
|
RGD |
PMID:16804061 |
RGD:2314614 |
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756
|
|
G
|
Chat
|
choline O-acetyltransferase
|
|
IEP
|
protein:decreased expression:telencephalon
|
RGD |
PMID:26282349 |
RGD:402463971 |
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
|
|
G
|
Chrm2
|
cholinergic receptor, muscarinic 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18603373 |
|
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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|
G
|
Clps
|
colipase
|
|
IEP
|
|
RGD |
PMID:19577003 |
RGD:2314624 |
NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689
|
|
G
|
Clu
|
clusterin
|
|
IEP
|
protein:increased expression:retina protein:increased expression:pancreatic islet
|
RGD |
PMID:12763621 PMID:23351716 |
RGD:9068392, RGD:9068411 |
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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|
G
|
Cma1
|
chymase 1
|
|
IEP
|
protein:increased expression:mesenteric artery, mast cell (rat)
|
RGD |
PMID:15337505 |
RGD:5128799 |
NCBI chr15:33,387,351...33,390,133
Ensembl chr15:29,417,451...29,420,233
|
|
G
|
Cnr1
|
cannabinoid receptor 1
|
|
IEP
|
protein:increased expression:hypothalamus, striatum
|
RGD |
PMID:18401837 |
RGD:2314633 |
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
|
|
G
|
Comt
|
catechol-O-methyltransferase
|
|
IDA
|
protein:decreased expression:liver
|
RGD |
PMID:12010186 |
RGD:2289789 |
NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642
|
|
G
|
Cp
|
ceruloplasmin
|
|
IEP
|
Protein:increased expression:plasma
|
RGD |
PMID:16947119 |
RGD:1599198 |
NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075
|
|
G
|
Cps1
|
carbamoyl-phosphate synthase 1
|
|
IEP
|
protein:increased activity:liver (rat)
|
RGD |
PMID:2882780 |
RGD:4144110 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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|
G
|
Cpt1a
|
carnitine palmitoyltransferase 1A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:200,565,613...200,627,055
|
|
G
|
Cpt1b
|
carnitine palmitoyltransferase 1B
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14563825 |
|
NCBI chr 7:122,370,974...122,380,473
Ensembl chr 7:120,491,354...120,500,404
|
|
G
|
Crh
|
corticotropin releasing hormone
|
|
IEP
|
mRNA:increased expression:paraventricular hypothalamic nucleus (rat)
|
RGD |
PMID:9652969 |
RGD:5508166 |
NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919
|
|
G
|
Crp
|
C-reactive protein
|
|
IDA ISO
|
|
RGD |
PMID:21736771 PMID:21736794 |
RGD:6482316, RGD:6907422 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
|
|
G
|
Crtc2
|
CREB regulated transcription coactivator 2
|
|
IMP
|
|
RGD |
PMID:23595987 |
RGD:9685169 |
NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
|
|
G
|
Cs
|
citrate synthase
|
|
IEP
|
protein:increased expression:hippocampus protein decreased expression:heart, soleus
|
RGD |
PMID:21088877 PMID:12077722 |
RGD:329337352, RGD:329337354 |
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
|
|
G
|
Csf1
|
colony stimulating factor 1
|
|
IEP
|
mRNA,protein:increased expression:retina (rat)
|
RGD |
PMID:19219684 |
RGD:151665779 |
NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704
|
|
G
|
Csf1r
|
colony stimulating factor 1 receptor
|
|
IEP
|
mRNA,protein:increased expression:retina (rat)
|
RGD |
PMID:19219684 |
RGD:151665779 |
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
|
|
G
|
Ctsb
|
cathepsin B
|
|
IEP
|
protein:decreased activity:glomerulus (rat)
|
RGD |
PMID:10393385 |
RGD:2315531 |
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
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G
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Ctsc
|
cathepsin C
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IEP
|
|
RGD |
PMID:148980 |
RGD:1599652 |
NCBI chr 1:151,440,860...151,472,430
Ensembl chr 1:142,028,392...142,060,387
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G
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Ctsl
|
cathepsin L
|
|
IEP
|
mRNA:increased expression:gastrocnemius muscle (rat)
|
RGD |
PMID:14718385 |
RGD:1641826 |
NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
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|
G
|
Cx3cl1
|
C-X3-C motif chemokine ligand 1
|
|
IEP ISO
|
mRNA:increased expression:kidney CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20388520 PMID:15153757 |
RGD:4891992 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G
|
Cx3cr1
|
C-X3-C motif chemokine receptor 1
|
|
IEP
|
mRNA:increased expression:kidney
|
RGD |
PMID:15153757 |
RGD:4891992 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G
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Cxcl10
|
C-X-C motif chemokine ligand 10
|
|
ISO
|
mRNA:increased expression:pancreatic islet
|
RGD |
PMID:17372021 |
RGD:2311360 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G
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Cxcl12
|
C-X-C motif chemokine ligand 12
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|
IEP ISO
|
protein:increased expression:retina
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RGD |
PMID:18201529 PMID:17878289 |
RGD:2306555, RGD:2306557 |
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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G
|
Cyba
|
cytochrome b-245 alpha chain
|
|
IEP ISO
|
mRNA, protein:increased expression:aorta CTD Direct Evidence: marker/mechanism mRNA:increased expression:pancreas:
|
CTD RGD |
PMID:11812764 PMID:12967931 PMID:20226688 PMID:23905384 |
RGD:2317852, RGD:11040693 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G
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Cybb
|
cytochrome b-245 beta chain
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|
IEP ISO
|
mRNA:increased expression:aorta CTD Direct Evidence: marker/mechanism mRNA:increased expression:cerebral cortex;associated with reperfusion injury
|
CTD RGD |
PMID:19478208 PMID:11157681 PMID:15148062 |
RGD:1599691, RGD:1599683 |
NCBI chr X:16,030,596...16,065,065
Ensembl chr X:13,359,430...13,392,586
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|
G
|
Cyp11a1
|
cytochrome P450, family 11, subfamily a, polypeptide 1
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|
IEP
|
mRNA:decreased expression:sciatic nerve (rat)
|
RGD |
PMID:20826654 |
RGD:4145530 |
NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:58,404,669...58,434,338
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|
G
|
Cyp11b2
|
cytochrome P450, family 11, subfamily b, polypeptide 2
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|
IEP
|
mRNA:increased expression:kidney
|
RGD |
PMID:18582458 |
RGD:2307289 |
NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004
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|
G
|
Cyp19a1
|
cytochrome P450, family 19, subfamily a, polypeptide 1
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|
IEP
|
protein:decreased expression:ovary, testis (rat)
|
RGD |
PMID:20428845 |
RGD:4890359 |
NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758
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|
G
|
Cyp1a1
|
cytochrome P450, family 1, subfamily a, polypeptide 1
|
|
IDA ISO
|
protein:increased expression:liver, microsome (rat) CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:22342832 PMID:10711628 |
RGD:2307074 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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|
G
|
Cyp27b1
|
cytochrome P450, family 27, subfamily b, polypeptide 1
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|
IDA
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|
RGD |
PMID:3295473 |
RGD:2307313 |
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241
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G
|
Cyp2b1
|
cytochrome P450, family 2, subfamily b, polypeptide 1
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|
IEP
|
protein:increased expression:liver
|
RGD |
PMID:17015271 |
RGD:2301459 |
NCBI chr 1:90,646,098...90,669,762
Ensembl chr 1:81,518,408...81,542,052
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|
G
|
Cyp2b3
|
cytochrome P450, family 2, subfamily b, polypeptide 3
|
|
ISO
|
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:22342832 PMID:11465407 |
RGD:2315743 |
NCBI chr 1:90,780,468...90,859,852
Ensembl chr 1:81,652,787...81,732,143
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G
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Cyp2e1
|
cytochrome P450, family 2, subfamily e, polypeptide 1
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ISO IEP
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mRNA, protein:increased expression:kidney, liver
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RGD |
PMID:12700423 PMID:19406192 |
RGD:2313685, RGD:2313683 |
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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G
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Dbh
|
dopamine beta-hydroxylase
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|
IEP
|
mRNA, protein:increased expression:adrenal gland (rat)
|
RGD |
PMID:16396986 |
RGD:5130724 |
NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248
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G
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Dcn
|
decorin
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|
IEP
|
|
RGD |
PMID:15713786 |
RGD:2311414 |
NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270
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|
G
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Defb1
|
defensin beta 1
|
|
IEP
|
|
RGD |
PMID:16740310 |
RGD:2312491 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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|
G
|
Dhodh
|
dihydroorotate dehydrogenase
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|
IEP
|
protein:decreased activity:mammary gland (rat)
|
RGD |
PMID:1476792 PMID:1723607 |
RGD:5132591, RGD:11040445 |
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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G
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Dpp4
|
dipeptidylpeptidase 4
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|
ISO
|
|
RGD |
PMID:19765579 |
RGD:2313699 |
NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:46,962,243...47,043,901
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G
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Drd1
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dopamine receptor D1
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treatment
|
IEP IDA
|
protein:decreased activity:striatum (rat)
|
RGD |
PMID:1386820 PMID:20513244 |
RGD:2311600, RGD:7248621 |
NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002
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G
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Drd2
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dopamine receptor D2
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|
IEP
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protein:altered activity:hypothalamus, pancreatic islet, brainstem (rat)
|
RGD |
PMID:17174299 |
RGD:1624999 |
NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875
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G
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Dusp1
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dual specificity phosphatase 1
|
|
IEP
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mRNA, protein:decreased expression:ventricle myocardium mRNA:increased expression:retina
|
RGD |
PMID:17647144 PMID:17063547 |
RGD:2298672, RGD:7771540 |
NCBI chr10:17,184,853...17,187,646
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G
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Ece1
|
endothelin converting enzyme 1
|
|
IEP
|
mRNA:increased expression:thoracic aorta
|
RGD |
PMID:23600389 |
RGD:7243858 |
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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G
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Edn1
|
endothelin 1
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treatment
|
IEP ISO IDA
|
mRNA:increased expression:heart, kidney, retina (rat) CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12458661 PMID:12967931 PMID:18516100 PMID:18351623 PMID:18351623 |
RGD:2313282, RGD:2312288, RGD:2312288 |
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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|
G
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Ednra
|
endothelin receptor type A
|
|
IMP
|
|
RGD |
PMID:20690982 |
RGD:4892336 |
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049
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|
G
|
Eef2
|
eukaryotic translation elongation factor 2
|
treatment
|
IEP
|
protein:decreased expression:cardiac muscle:
|
RGD |
PMID:7513958 |
RGD:10401649 |
NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183
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|
G
|
Egfr
|
epidermal growth factor receptor
|
|
IDA
|
protein:decreased tyrosine phosphorylation:cornea
|
RGD |
PMID:21330660 |
RGD:5131482 |
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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G
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Eln
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elastin
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|
IEP
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mRNA:increased expression:bladder:
|
RGD |
PMID:18279932 |
RGD:9585725 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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|
G
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Eno2
|
enolase 2
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|
IEP
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protein:increased expression:brain
|
RGD |
PMID:15780189 |
RGD:2293753 |
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980
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|
G
|
Enpp2
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ectonucleotide pyrophosphatase/phosphodiesterase 2
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|
IEP
|
protein:decreased expression:retina:
|
RGD |
PMID:22864860 |
RGD:9685437 |
NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:86,202,350...86,324,827
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|
G
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Entpd1
|
ectonucleoside triphosphate diphosphohydrolase 1
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|
IEP
|
protein,mRNA:increased expression:glial cell, retina: protein:enzyme activity:platelet
|
RGD |
PMID:18687327 PMID:17119848 |
RGD:9685473, RGD:9685486 |
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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|
G
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Ep300
|
E1A binding protein p300
|
treatment
|
ISO IDA IMP IEP
|
mRNA:increased expression:retina, kidney (mouse) mRNA:increased expression:heart (rat)
|
RGD |
PMID:18351623 PMID:22228707 PMID:18413674 PMID:18657544 |
RGD:2312288, RGD:7296926, RGD:2312263, RGD:2312287 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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|
G
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Epo
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erythropoietin
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|
IEP
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mRNA:increased expression:Schwann cell:
|
RGD |
PMID:24673486 |
RGD:11041670 |
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
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|
G
|
Epor
|
erythropoietin receptor
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|
IEP
|
mRNA:increased expression:Schwann cell:
|
RGD |
PMID:24673486 |
RGD:11041670 |
NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257
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|
G
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Ercc1
|
ERCC excision repair 1, endonuclease non-catalytic subunit
|
treatment
|
IEP
|
|
RGD |
PMID:22228707 |
RGD:7296926 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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|
G
|
Ercc4
|
ERCC excision repair 4, endonuclease catalytic subunit
|
treatment
|
IEP
|
|
RGD |
PMID:22228707 |
RGD:7296926 |
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 Ensembl chr10:2,419,038...2,448,369
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|
G
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Esr1
|
estrogen receptor 1
|
|
IEP
|
protein:decreased expression:penis protein:decreased expression:vagina,nucleus
|
RGD |
PMID:15596216 PMID:16734901 |
RGD:2306775, RGD:2314014 |
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
|
|
G
|
Esrra
|
estrogen related receptor, alpha
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23090186 |
|
NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:204,104,101...204,114,268
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|
G
|
Ets1
|
ETS proto-oncogene 1, transcription factor
|
|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:17622743 |
RGD:2313849 |
NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:31,045,945...31,168,010
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|
G
|
Ezh2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
IEP
|
protein:increased expression:kidney
|
RGD |
PMID:23508046 |
RGD:9587808 |
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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G
|
F11r
|
F11 receptor
|
|
IEP
|
|
RGD |
PMID:18506084 |
RGD:7488940 |
NCBI chr13:86,406,229...86,429,819
Ensembl chr13:83,873,797...83,897,402
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G
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F2
|
coagulation factor II, thrombin
|
|
ISO
|
protein:increased expression:kidney
|
RGD |
PMID:15990447 |
RGD:2313862 |
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
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|
G
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F3
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coagulation factor III, tissue factor
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|
ISO
|
protein:increased activity:kidney
|
RGD |
PMID:15990447 |
RGD:2313862 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
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G
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F7
|
coagulation factor VII
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|
IDA IEP
|
protein:decreased activity:plasma (rat)
|
RGD |
PMID:11474472 PMID:16779662 |
RGD:2312396, RGD:2312313 |
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
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|
G
|
Fabp2
|
fatty acid binding protein 2
|
treatment
|
IEP
|
|
RGD |
PMID:28085064 |
RGD:598130069 |
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
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G
|
Fabp3
|
fatty acid binding protein 3
|
|
IEP
|
mRNA, protein:decreased expression:aorta
|
RGD |
PMID:7744030 |
RGD:2307330 |
NCBI chr 5:147,936,027...147,942,870
Ensembl chr 5:142,651,956...142,658,718
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G
|
Fabp4
|
fatty acid binding protein 4
|
|
IEP
|
protein:decreased expresssion:fat cell
|
RGD |
PMID:9059981 |
RGD:1625411 |
NCBI chr 2:93,488,251...93,492,961
Ensembl chr 2:91,580,885...91,585,578
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G
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Fads1
|
fatty acid desaturase 1
|
|
IEP
|
mRNA:decreased expression:liver
|
RGD |
PMID:16099631 |
RGD:1625413 |
NCBI chr 1:216,252,605...216,267,618
Ensembl chr 1:206,827,765...206,842,734
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|
G
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Fas
|
Fas cell surface death receptor
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onset
|
ISO IEP
|
CTD Direct Evidence: marker/mechanism protein:increased expression:heart ventricle
|
CTD RGD |
PMID:16123366 PMID:20004692 PMID:19820199 |
RGD:2315698, RGD:2314021 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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|
G
|
Faslg
|
Fas ligand
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|
IEP
|
protein:increased expression:heart ventricle
|
RGD |
PMID:19820199 |
RGD:2314021 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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|
G
|
Fbn1
|
fibrillin 1
|
|
IEP
|
protein:increased expression:renal glomerulus (rat)
|
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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|
G
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Fcgbpl1
|
Fc fragment of IgG binding protein-like 1
|
|
IEP
|
|
RGD |
PMID:20973890 |
RGD:5490977 |
NCBI chr 1:83,424,788...83,462,802
Ensembl chr 1:83,424,788...83,462,799
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|
G
|
Fga
|
fibrinogen alpha chain
|
|
IEP
|
protein:increased expression:plasma (rat)
|
RGD |
PMID:23086277 |
RGD:9684989 |
NCBI chr 2:170,672,169...170,679,572
Ensembl chr 2:168,374,120...168,381,528
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|
G
|
Fgf2
|
fibroblast growth factor 2
|
|
IEP
|
protein:increased expression:vitreous humor
|
RGD |
PMID:12663474 PMID:10792180 |
RGD:2315880, RGD:8655613 |
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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|
G
|
Fgf21
|
fibroblast growth factor 21
|
treatment
|
IEP ISO
|
protein:decreased expression:serum: CTD Direct Evidence: therapeutic
|
CTD RGD |
PMID:23499715 PMID:23262585 PMID:25359298 PMID:23262585 |
RGD:10401916, RGD:10401921, RGD:10401916 |
NCBI chr 1:105,219,825...105,221,376
Ensembl chr 1:96,083,441...96,090,454
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|
G
|
Flt1
|
Fms related receptor tyrosine kinase 1
|
|
IEP ISO
|
mRNA:decreased expression:heart mRNA:decreased expression:skeletal muscle
|
RGD |
PMID:16741021 PMID:16816123 |
RGD:2313724, RGD:2313725 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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|
G
|
Fn1
|
fibronectin 1
|
treatment
|
IEP
|
protein:increased expression:kidney
|
RGD |
PMID:22937115 PMID:22228707 |
RGD:7206838, RGD:7296926 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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|
G
|
Foxa2
|
forkhead box A2
|
|
IEP
|
mRNA:increased expression:kidney cortex
|
RGD |
PMID:19433262 |
RGD:2312358 |
NCBI chr 3:155,923,305...155,927,508
Ensembl chr 3:135,470,131...135,474,326
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|
G
|
Foxa3
|
forkhead box A3
|
|
IEP
|
mRNA:increased expression:liver
|
RGD |
PMID:11018767 |
RGD:2315085 |
NCBI chr 1:78,662,067...78,672,321
Ensembl chr 1:78,662,431...78,672,155
|
|
G
|
Foxo3
|
forkhead box O3
|
|
IEP ISO
|
protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: CTD Direct Evidence: marker/mechanism mRNA:decreased expression:liver:
|
CTD RGD |
PMID:23090186 PMID:23792339 PMID:17082237 PMID:12683947 PMID:17082237 |
RGD:10402196, RGD:10402199, RGD:10402196 |
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
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|
G
|
Foxp3
|
forkhead box P3
|
treatment
|
IEP
|
mRNA,protein:increased expression: peripheral blood, spleen, lymphoid node
|
RGD |
PMID:18328191 PMID:32341701 |
RGD:38599142, RGD:38599143 |
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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|
G
|
Fuca1
|
alpha-L-fucosidase 1
|
|
ISO
|
|
RGD |
PMID:3924473 |
RGD:2315947 |
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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|
G
|
Furin
|
furin (paired basic amino acid cleaving enzyme)
|
disease_progression
|
IEP
|
protein:decreased expression:kidney
|
RGD |
PMID:16541018 |
RGD:1582625 |
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
|
|
G
|
G6pc1
|
glucose-6-phosphatase catalytic subunit 1
|
treatment
|
IEP
|
protein:increased activity:liver, kidney
|
RGD |
PMID:16176150 PMID:27366200 |
RGD:2315960, RGD:14695533 |
NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,257,668...86,333,804
|
|
G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
treatment
|
IEP
|
protein:increased expression:lens protein:decreased expression:liver
|
RGD |
PMID:16718375 PMID:25116122 PMID:19374864 |
RGD:2307345, RGD:10449121, RGD:2307337 |
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801
|
|
G
|
Gabbr1
|
gamma-aminobutyric acid type B receptor subunit 1
|
|
IEP
|
|
RGD |
PMID:2849069 |
RGD:2315971 |
NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
|
|
G
|
Gal
|
galanin and GMAP prepropeptide
|
|
ISO IEP
|
protein:decreased expression:pancreatic islet
|
RGD |
PMID:7505518 PMID:11489087 |
RGD:2313742, RGD:2313740 |
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
|
|
G
|
Galp
|
galanin-like peptide
|
|
IMP IEP
|
mRNA:increased expression:arcuate nucleus, pars posterior
|
RGD |
PMID:16046316 PMID:15256810 |
RGD:2313737, RGD:2313739 |
NCBI chr 1:67,684,023...67,703,121
Ensembl chr 1:67,684,025...67,702,269
|
|
G
|
Gapdh
|
glyceraldehyde-3-phosphate dehydrogenase
|
treatment
|
IEP
|
|
RGD |
PMID:27655796 |
RGD:13792671 |
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
|
|
G
|
Gata4
|
GATA binding protein 4
|
|
IEP
|
protein:increased serine phosphorylation:heart
|
RGD |
PMID:22293779 |
RGD:7207042 |
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
|
|
G
|
Gc
|
GC, vitamin D binding protein
|
|
IEP
|
protein:decreased expression:serum
|
RGD |
PMID:3838933 |
RGD:2315540 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
|
|
G
|
Gcg
|
glucagon
|
treatment
|
IEP
|
|
RGD |
PMID:18996945 |
RGD:10402370 |
NCBI chr 3:67,522,489...67,531,533
Ensembl chr 3:47,113,914...47,122,929
|
|
G
|
Gch1
|
GTP cyclohydrolase 1
|
treatment
|
ISO IEP
|
protein:increased degradation:heart associated with type 1 diabetes mellitus
|
RGD |
PMID:27295516 PMID:18061195 PMID:18596126 |
RGD:329961323, RGD:2314434, RGD:401700392 |
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698
|
|
G
|
Gck
|
glucokinase
|
|
IMP ISO
|
protein:decreased activity:liver:reduced activity, energy of activation and affinity for glucose in streptozotocin diabetic rats CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:2132180 |
RGD:2301955 |
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
|
|
G
|
Gcnt1
|
glucosaminyl (N-acetyl) transferase 1
|
|
IDA
|
mRNA:increased expression:heart
|
RGD |
PMID:7560067 |
RGD:632804 |
NCBI chr 1:224,145,104...224,182,496
Ensembl chr 1:214,718,293...214,758,776
|
|
G
|
Gfpt1
|
glutamine fructose-6-phosphate transaminase 1
|
|
IEP
|
protein:decreased expression:epididymal fat pad, liver, skeletal muscle
|
RGD |
PMID:7589852 |
RGD:2313355 |
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
|
|
G
|
Ggt1
|
gamma-glutamyltransferase 1
|
|
IEP
|
protein:increased activity:serum
|
RGD |
PMID:18291430 |
RGD:2315577 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
|
|
G
|
Gh1
|
growth hormone 1
|
|
IDA IEP
|
protein:decreased expression:serum, pituitary gland
|
RGD |
PMID:2931155 PMID:19370419 |
RGD:2315682, RGD:2315655 |
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
|
|
G
|
Ghr
|
growth hormone receptor
|
|
ISO IEP
|
|
RGD |
PMID:12529387 PMID:7964296 |
RGD:2307365, RGD:11567222 |
NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735
|
|
G
|
Ghrh
|
growth hormone releasing hormone
|
treatment
|
IDA
|
|
RGD |
PMID:22393012 |
RGD:10401241 |
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
|
|
G
|
Ghrhr
|
growth hormone releasing hormone receptor
|
|
IEP
|
|
RGD |
PMID:18285528 |
RGD:10401258 |
NCBI chr 4:85,830,345...85,863,127
Ensembl chr 4:84,500,212...84,532,776
|
|
G
|
Ghrl
|
ghrelin and obestatin prepropeptide
|
disease_progression
|
ISO IEP
|
protein:increased expression:plasma
|
RGD |
PMID:18657539 PMID:23965296 |
RGD:2313750, RGD:12905048 |
NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
|
|
G
|
Ghsr
|
growth hormone secretagogue receptor
|
|
IEP
|
mRNA:increased expression:Arcuate nucleus :
|
RGD |
PMID:23965296 |
RGD:12905048 |
NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:110,268,489...110,271,865
|
|
G
|
Gip
|
gastric inhibitory polypeptide
|
|
IEP
|
mRNA:increased expression:retina (rat)
|
RGD |
PMID:12789546 |
RGD:2312548 |
NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
|
|
G
|
Gipr
|
gastric inhibitory polypeptide receptor
|
|
IEP
|
mRNA:increased expression:retina (rat)
|
RGD |
PMID:12789546 |
RGD:2312548 |
NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
|
|
G
|
Gja1
|
gap junction protein, alpha 1
|
treatment
|
IEP ISO IDA
|
protein:increased expression:dermis protein:decreased expression:retina, blood vessel protein:altered expression:retina:
|
RGD |
PMID:22455314 PMID:20130277 PMID:22110070 PMID:20609064 |
RGD:7207269, RGD:8662383, RGD:7364887, RGD:7207415 |
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
|
|
G
|
Gja5
|
gap junction protein, alpha 5
|
treatment
|
IDA
|
|
RGD |
PMID:20609064 |
RGD:7207415 |
NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:184,564,475...184,621,952
|
|
G
|
Gjb2
|
gap junction protein, beta 2
|
|
IEP
|
mRNA,protein:decreased expression:retina:
|
RGD |
PMID:22110070 |
RGD:7364887 |
NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177
|
|
G
|
Gjb6
|
gap junction protein, beta 6
|
|
IEP
|
|
RGD |
PMID:21567444 |
RGD:7364783 |
NCBI chr15:35,400,147...35,410,649
Ensembl chr15:31,284,419...31,294,582
|
|
G
|
Gjd3
|
gap junction protein, delta 3
|
|
IEP
|
protein:decreased expression:retina:
|
RGD |
PMID:23385797 |
RGD:7364769 |
NCBI chr10:84,429,923...84,432,011
Ensembl chr10:83,934,135...83,934,971
|
|
G
|
Glp1r
|
glucagon-like peptide 1 receptor
|
|
IDA
|
|
RGD |
PMID:10580413 |
RGD:1624356 |
NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
|
|
G
|
Glrx
|
glutaredoxin
|
|
IEP
|
protein:increase activity:retina:
|
RGD |
PMID:17324929 |
RGD:9686046 |
NCBI chr 2:5,341,873...5,351,686
Ensembl chr 2:5,341,885...5,351,680
|
|
G
|
Glul
|
glutamate-ammonia ligase
|
treatment
|
IEP
|
mRNA, protein:decreased expression: retina protein:decreased expression:retina
|
RGD |
PMID:21770802 PMID:23595285 PMID:25335981 PMID:23284834 PMID:26677078 |
RGD:401794412, RGD:401794586, RGD:401794423, RGD:401794421, RGD:401794418 |
NCBI chr13:68,519,500...68,585,554
Ensembl chr13:66,025,630...66,035,108
|
|
G
|
Gmps
|
guanine monophosphate synthase
|
|
IEP
|
protein:increased activity:liver (rat)
|
RGD |
PMID:3043317 |
RGD:5135485 |
NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
|
|
G
|
Gnat1
|
G protein subunit alpha transducin 1
|
|
IEP
|
protein:decreased expression:retina
|
RGD |
PMID:15939031 |
RGD:1600001 |
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
|
|
G
|
Gnat3
|
G protein subunit alpha transducin 3
|
|
IEP
|
mRNA, protein;increased expression:taste bud
|
RGD |
PMID:18824257 |
RGD:2302147 |
NCBI chr 4:17,162,500...17,212,283
Ensembl chr 4:17,162,490...17,212,283
|
|
G
|
Gpam
|
glycerol-3-phosphate acyltransferase, mitochondrial
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:9452481 |
|
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
|
|
G
|
Gpd2
|
glycerol-3-phosphate dehydrogenase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
|
|
G
|
Gpx1
|
glutathione peroxidase 1
|
treatment
|
IEP ISO
|
protein:increased expression:liver CTD Direct Evidence: marker/mechanism protein:increased expression:glomerulus
|
CTD RGD |
PMID:16123366 PMID:19229592 PMID:25744399 PMID:15039483 PMID:18387670 |
RGD:2306606, RGD:11353782, RGD:2306161, RGD:2306607 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
|
|
G
|
Gpx3
|
glutathione peroxidase 3
|
treatment
|
IEP ISO IDA
|
protein, mRNA:decreased expression:kidney (rat)
|
RGD |
PMID:12753302 PMID:32546886 PMID:23407453 PMID:16651743 PMID:12753302 |
RGD:2312629, RGD:401827917, RGD:401827857, RGD:2312631, RGD:2312629 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
|
|
G
|
Grin1
|
glutamate ionotropic receptor NMDA type subunit 1
|
treatment
|
IEP
|
|
RGD |
PMID:23595285 |
RGD:401794586 |
NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603
|
|
G
|
Grin2b
|
glutamate ionotropic receptor NMDA type subunit 2B
|
|
IEP
|
mRNA, protein:increased expression:cerebellum (rat)
|
RGD |
PMID:20056114 |
RGD:4107025 |
NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279
|
|
G
|
Grk1
|
G protein-coupled receptor kinase 1
|
|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:15939031 |
RGD:1600001 |
NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
|
|
G
|
Gsk3a
|
glycogen synthase kinase 3 alpha
|
treatment
|
IEP
|
|
RGD |
PMID:8526919 |
RGD:10401824 |
NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:80,815,850...80,825,802
|
|
G
|
Gsr
|
glutathione-disulfide reductase
|
treatment
|
IEP ISO
|
protein:decreased activity:plasma: CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20620209 PMID:20187988 PMID:25050809 |
RGD:7257587, RGD:10401889 |
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661
|
|
G
|
Gsta4
|
glutathione S-transferase alpha 4
|
|
IEP
|
protein:increased expression:pancreas, kidney, liver (rat)
|
RGD |
PMID:14693714 |
RGD:5687773 |
NCBI chr 8:87,947,247...87,964,490
Ensembl chr 8:79,066,934...79,084,182
|
|
G
|
Guk1
|
guanylate kinase 1
|
|
IEP
|
protein:decreased expression:retina (rat)
|
RGD |
PMID:17465459 |
RGD:5147874 |
NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
|
|
G
|
H6pd
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
IDA
|
|
RGD |
PMID:20923496 |
RGD:6784507 |
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
|
|
G
|
Hadh
|
hydroxyacyl-CoA dehydrogenase
|
|
IEP
|
|
RGD |
PMID:7050060 |
RGD:2302232 |
NCBI chr 2:222,462,049...222,504,446
Ensembl chr 2:219,787,927...219,830,353
|
|
G
|
Hadha
|
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
|
|
ISO
|
protein:decreased expression:brain
|
RGD |
PMID:25260493 |
RGD:10047114 |
NCBI chr 6:31,907,801...31,947,434
Ensembl chr 6:26,187,956...26,227,869
|
|
G
|
Hbb-bs
|
hemoglobin, beta adult s chain
|
|
IEP
|
|
RGD |
PMID:20973890 |
RGD:5490977 |
NCBI chr 1:158,218,356...158,219,741
Ensembl chr 1:158,120,200...158,252,012
|
|
G
|
Hcn1
|
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
|
|
IEP
|
protein:increased expression:neuron:
|
RGD |
PMID:19815055 |
RGD:9693680 |
NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
|
|
G
|
Hcn2
|
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
|
|
IEP
|
protein:increased expression:neuron:
|
RGD |
PMID:19815055 |
RGD:9693680 |
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
|
|
G
|
Hcn3
|
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3
|
|
IEP
|
protein:increased expression:neuron:
|
RGD |
PMID:19815055 |
RGD:9693680 |
NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
|
|
G
|
Hdac1
|
histone deacetylase 1
|
|
IEP
|
protein:increased activity:renal cortex:
|
RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111
|
|
G
|
Hdac2
|
histone deacetylase 2
|
|
IEP
|
protein:increased activity:renal cortex:
|
RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
|
|
G
|
Hdac4
|
histone deacetylase 4
|
|
IEP
|
protein:increased activity:renal cortex:
|
RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
|
|
G
|
Hgf
|
hepatocyte growth factor
|
|
IEP
|
protein:increased expression:kidney
|
RGD |
PMID:16297324 |
RGD:2313568 |
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
|
|
G
|
Hif1a
|
hypoxia inducible factor 1 subunit alpha
|
|
IEP
|
protein:increased expression:sciatic nerve (rat)
|
RGD |
PMID:15663958 |
RGD:8694461 |
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
|
|
G
|
Hk1
|
hexokinase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131
|
|
G
|
Hmbs
|
hydroxymethylbilane synthase
|
|
IEP
|
protein:decreased activity:liver (rat)
|
RGD |
PMID:6688350 |
RGD:4144808 |
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
|
|
G
|
Hmgb1
|
high mobility group box 1
|
|
IEP
|
associated with Endotoxemia;protein:increased expression:serum protein:increased expression, altered localization:retina, cytoplasm
|
RGD |
PMID:19959191 PMID:23261684 |
RGD:2316737, RGD:10402069 |
NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
|
|
G
|
Hmgcl
|
3-hydroxy-3-methylglutaryl-CoA lyase
|
|
IEP
|
protein:increased activity:liver (rat)
|
RGD |
PMID:5667251 |
RGD:2326171 |
NCBI chr 5:153,461,738...153,475,552
Ensembl chr 5:148,178,252...148,192,068
|
|
G
|
Hmgcr
|
3-hydroxy-3-methylglutaryl-CoA reductase
|
|
IMP
|
|
RGD |
PMID:15111316 |
RGD:2313760 |
NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703
|
|
G
|
Hmgcs1
|
3-hydroxy-3-methylglutaryl-CoA synthase 1
|
|
IEP
|
protein:increased expression:pancreas
|
RGD |
PMID:18452227 |
RGD:2302233 |
NCBI chr 2:53,379,457...53,399,807
Ensembl chr 2:51,649,497...51,667,100
|
|
G
|
Hmgcs2
|
3-hydroxy-3-methylglutaryl-CoA synthase 2
|
|
IEP
|
protein:increased expression:liver (rat)
|
RGD |
PMID:7902069 |
RGD:2326135 |
NCBI chr 2:188,564,348...188,590,872
Ensembl chr 2:185,875,616...185,902,130
|
|
G
|
Hmox1
|
heme oxygenase 1
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism|therapeutic
|
CTD RGD |
PMID:16123366 PMID:16959961 PMID:18375438 PMID:19804535 PMID:15734859 |
RGD:1582713 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
|
|
G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
IEP ISO
|
mRNA:decreased expression:kidney, liver protein:increased expression:liver:
|
RGD |
PMID:18184923 PMID:19179483 |
RGD:2301838, RGD:12904769 |
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
|
|
G
|
Hnrnpa2b1
|
heterogeneous nuclear ribonucleoprotein A2/B1
|
|
IEP
|
protein:increased expression:urinary bladder (rat)
|
RGD |
PMID:18337374 |
RGD:9685410 |
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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|
G
|
Hnrnpk
|
heterogeneous nuclear ribonucleoprotein K
|
treatment
|
IDA
|
|
RGD |
PMID:16837467 |
RGD:10002795 |
NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,262,998...6,274,997
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|
G
|
Hp
|
haptoglobin
|
|
IEP
|
protein:increased expression:serum
|
RGD |
PMID:11072799 |
RGD:1626381 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
|
|
G
|
Hprt1
|
hypoxanthine phosphoribosyltransferase 1
|
|
IEP
|
protein:decreased activity:liver (rat)
|
RGD |
PMID:3043317 |
RGD:5135485 |
NCBI chr X:137,655,744...137,687,718
Ensembl chr X:132,736,096...132,768,154
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|
G
|
Hras
|
HRas proto-oncogene, GTPase
|
|
IEP
|
mRNA, protein:increased expression:retina blood vessel
|
RGD |
PMID:18514235 |
RGD:2314841 |
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
|
|
G
|
Hsd11b1
|
hydroxysteroid 11-beta dehydrogenase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14697232 |
|
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
|
|
G
|
Hsp90aa1
|
heat shock protein 90 alpha family class A member 1
|
|
IEP
|
mRNA:decreased expression:brain (rat)
|
RGD |
PMID:21104931 |
RGD:5686396 |
NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268
|
|
G
|
Hspd1
|
heat shock protein family D (Hsp60) member 1
|
|
IEP
|
|
RGD |
PMID:17280490 |
RGD:1624229 |
NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662
|
|
G
|
Hspg2
|
heparan sulfate proteoglycan 2
|
|
IEP
|
mRNA:decreased expression:retina
|
RGD |
PMID:9068943 |
RGD:1624265 |
NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594
|
|
G
|
Htr2a
|
5-hydroxytryptamine receptor 2A
|
|
IEP
|
protein:increased expression:lung
|
RGD |
PMID:21521772 |
RGD:5135278 |
NCBI chr15:56,360,647...56,428,703
Ensembl chr15:49,950,804...50,020,928
|
|
G
|
Iapp
|
islet amyloid polypeptide
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 4:176,968,097...176,975,363
Ensembl chr 4:175,237,115...175,242,920
|
|
G
|
Icam1
|
intercellular adhesion molecule 1
|
treatment
|
ISO IEP
|
mRNA:increased expression:aorta CTD Direct Evidence: marker/mechanism protein:increased expression:serum
|
CTD RGD |
PMID:14871415 PMID:20388520 PMID:24513509 PMID:18093596 PMID:20136425 PMID:18413153 More...
|
RGD:2306988, RGD:8547703, RGD:2306987 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
|
|
G
|
Id1
|
inhibitor of DNA binding 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 3:161,671,525...161,672,691
Ensembl chr 3:141,211,267...141,212,419
|
|
G
|
Ide
|
insulin degrading enzyme
|
|
IEP
|
protein:decreased expression:cerebral cortex
|
RGD |
PMID:29940507 |
RGD:13792791 |
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
|
|
G
|
Ifnar1
|
interferon alpha and beta receptor subunit 1
|
|
IMP
|
|
RGD |
PMID:27999109 |
RGD:12910492 |
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:30,725,790...30,749,979
|
|
G
|
Ifnar1em1
|
interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1
|
|
IMP
|
|
RGD |
PMID:27999109 |
RGD:12910492 |
|
|
G
|
Ifnar1em2
|
interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2
|
|
IMP
|
|
RGD |
PMID:27999109 |
RGD:12910492 |
|
|
G
|
Ifng
|
interferon gamma
|
|
ISO IEP
|
mRNA:increased expression:pancreas CTD Direct Evidence: marker/mechanism protein:increased expression:retina
|
CTD RGD |
PMID:21340626 PMID:18789669 PMID:20213480 |
RGD:2311492, RGD:5147915 |
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
|
IEP ISO
|
protein:decreased expression:cerebellum, serum mRNA:altered expression:kidney CTD Direct Evidence: therapeutic mRNA,protein:decreased expression:corpus cavernosum: protein:decreased expression:oviduct protein:decreased expression:heart
|
CTD RGD |
PMID:24632065 PMID:19382144 PMID:7536658 PMID:22133301 PMID:18676006 PMID:20555424 More...
|
RGD:2306671, RGD:152176653, RGD:10046054, RGD:2311502, RGD:4142788 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Igf1r
|
insulin-like growth factor 1 receptor
|
|
IEP ISO
|
protein:decreased phosphorylation:heart protein:decreased expression:oviduct
|
RGD |
PMID:20555424 PMID:18676006 |
RGD:4142788, RGD:2311502 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
|
|
G
|
Igf2
|
insulin-like growth factor 2
|
treatment
|
ISO IEP
|
DNA, mRNA:hypermethylation, decreased expression mRNA:decreased expression:brain protein:increased expression:oviduct protein:increased expression:multiple
|
RGD |
PMID:18724775 PMID:23364485 PMID:10686593 PMID:18676006 PMID:17184497 |
RGD:2311511, RGD:10402565, RGD:5509973, RGD:2311502, RGD:2311513 |
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
|
|
G
|
Igf2r
|
insulin-like growth factor 2 receptor
|
|
ISO
|
protein:increased expression:oviduct
|
RGD |
PMID:18676006 |
RGD:2311502 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
|
|
G
|
Igfbp1
|
insulin-like growth factor binding protein 1
|
|
IEP
|
mRNA:altered expression:kidney
|
RGD |
PMID:7536658 |
RGD:152176653 |
NCBI chr14:86,261,277...86,266,344
Ensembl chr14:82,047,415...82,052,482
|
|
G
|
Igfbp2
|
insulin-like growth factor binding protein 2
|
|
IEP
|
mRNA:altered expression:kidney
|
RGD |
PMID:7536658 |
RGD:152176653 |
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
|
|
G
|
Igfbp3
|
insulin-like growth factor binding protein 3
|
treatment
|
ISO IEP IMP
|
protein:increased expression:skeletal muscle mRNA:altered expression:kidney mRNA, protein:increased expression:penis
|
RGD |
PMID:16180585 PMID:7536658 PMID:25582342 PMID:18068478 |
RGD:2313766, RGD:152176653, RGD:12743617, RGD:2289159 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
|
|
G
|
Igfbp4
|
insulin-like growth factor binding protein 4
|
|
IEP
|
mRNA:altered expression:kidney
|
RGD |
PMID:7536658 |
RGD:152176653 |
NCBI chr10:84,491,471...84,503,487
Ensembl chr10:83,989,591...84,007,225
|
|
G
|
Igfbp5
|
insulin-like growth factor binding protein 5
|
|
IEP
|
mRNA:altered expression:kidney
|
RGD |
PMID:7536658 |
RGD:152176653 |
NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
|
|
G
|
Ikbkb
|
inhibitor of nuclear factor kappa B kinase subunit beta
|
|
IDA
|
protein:increased phosphorylation:liver
|
RGD |
PMID:20362663 |
RGD:7495777 |
NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250
|
|
G
|
Il10
|
interleukin 10
|
|
IEP ISO
|
protein:increase expression:serum
|
RGD |
PMID:18787467 PMID:18779928 |
RGD:2308945, RGD:2308946 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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|
G
|
Il17a
|
interleukin 17A
|
|
IEP
|
protein:increased expression:gingiva (rat)
|
RGD |
PMID:21826658 |
RGD:9068940 |
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
|
|
G
|
Il1a
|
interleukin 1 alpha
|
|
IEP
|
protein:increased expression:heart
|
RGD |
PMID:20555424 |
RGD:4142788 |
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
|
|
G
|
Il1b
|
interleukin 1 beta
|
|
IEP ISO IDA
|
mRNA:increased expression:skeletal muscle CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12123627 PMID:17669395 PMID:23197974 |
RGD:1626620, RGD:7175529 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
|
|
G
|
Il1rn
|
interleukin 1 receptor antagonist
|
|
ISO
|
human gene in a rat model
|
RGD |
PMID:19545727 PMID:17221214 PMID:8037760 |
RGD:6907397, RGD:8551855, RGD:6907425 |
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
|
|
G
|
Il2
|
interleukin 2
|
|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:20213480 |
RGD:5147915 |
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
|
|
G
|
Il2ra
|
interleukin 2 receptor subunit alpha
|
|
IDA
|
|
RGD |
PMID:18503494 |
RGD:2311530 |
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
|
|
G
|
Il4
|
interleukin 4
|
treatment
|
IEP
|
|
RGD |
PMID:25191525 |
RGD:10402795 |
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
|
|
G
|
Il4r
|
interleukin 4 receptor
|
|
ISO
|
|
RGD |
PMID:12165974 |
RGD:4889983 |
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
|
|
G
|
Il6
|
interleukin 6
|
treatment
|
IEP ISO IDA
|
protein:increased expression:heart CTD Direct Evidence: marker/mechanism protein:increased expression:extracellular space (rat) protein:increased expression:blood
|
CTD RGD |
PMID:22138235 PMID:20555424 PMID:28085064 PMID:24582317 PMID:19328014 PMID:18976114 More...
|
RGD:4142788, RGD:598130069, RGD:11049554, RGD:2307252, RGD:2306984 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
|
|
G
|
Ins1
|
insulin 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:2975197 PMID:3044883 |
|
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
|
|
G
|
Insig1
|
insulin induced gene 1
|
|
ISO
|
|
RGD |
PMID:16327801 |
RGD:2308858 |
NCBI chr 4:8,049,339...8,057,812
Ensembl chr 4:7,315,495...7,323,952
|
|
G
|
Insr
|
insulin receptor
|
disease_progression treatment
|
IDA IEP ISO
|
protein:decreased expression:erythrocyte (rat) mRNA:increased expression:liver nuclei, liver cell membrane (rat) protein:altered activity:liver plasma membrane CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver, adipose tissue (rat) protein:decreased expression:kidney
|
CTD RGD |
PMID:9243097 PMID:22138235 PMID:18376071 PMID:1280238 PMID:2180315 PMID:23874448 PMID:18638371 PMID:17855644 More...
|
RGD:2307339, RGD:15036814, RGD:14981592, RGD:10403045, RGD:2307025, RGD:2290475 |
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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|
G
|
Irs1
|
insulin receptor substrate 1
|
treatment
|
IDA ISO IEP
|
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:multiple
|
CTD RGD |
PMID:22138235 PMID:22983684 PMID:22820932 |
RGD:7207061, RGD:7207063 |
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
|
|
G
|
Irs2
|
insulin receptor substrate 2
|
|
IEP ISO
|
protein:decreased phosphorylation:heart CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:25808216 PMID:20555424 |
RGD:4142788 |
NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482
|
|
G
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Isg15
|
ISG15 ubiquitin-like modifier
|
|
IEP
|
|
RGD |
PMID:20973890 |
RGD:5490977 |
NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
|
|
G
|
Itga3
|
integrin subunit alpha 3
|
|
IEP
|
protein:decreased expression:renal cortex (rat)
|
RGD |
PMID:20525748 |
RGD:2325818 |
NCBI chr10:80,486,998...80,522,548
Ensembl chr10:79,990,161...80,022,118
|
|
G
|
Itgam
|
integrin subunit alpha M
|
|
IEP
|
protein:increased expression:neutrophil (rat)
|
RGD |
PMID:10752954 |
RGD:329902069 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
|
|
G
|
Itgb1
|
integrin subunit beta 1
|
|
IEP
|
protein:decreased expression:epidermal stem cell (rat)
|
RGD |
PMID:20187441 |
RGD:2325322 |
NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195
|
|
G
|
Itgb3
|
integrin subunit beta 3
|
|
IEP
|
protein:increased expression:aorta:
|
RGD |
PMID:12606526 |
RGD:8693385 |
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679
|
|
G
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Jak3
|
Janus kinase 3
|
|
IEP
|
protein:increased expression:retina
|
RGD |
PMID:21575160 |
RGD:11533943 |
NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536
|
|
G
|
Kcna2
|
potassium voltage-gated channel subfamily A member 2
|
|
IEP
|
|
RGD |
PMID:17982915 |
RGD:7242761 |
NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
|
|
G
|
Kcna5
|
potassium voltage-gated channel subfamily A member 5
|
|
IEP
|
|
RGD |
PMID:17982915 |
RGD:7242761 |
NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:159,350,097...159,357,697
|
|
G
|
Kcne2
|
potassium voltage-gated channel subfamily E regulatory subunit 2
|
|
IEP
|
mRNA:decreased expression:left heart ventricle
|
RGD |
PMID:19267230 |
RGD:7243942 |
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
|
|
G
|
Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
|
|
IEP ISO
|
protein:decreased expression:brain CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:23785408 |
RGD:7296920 |
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
|
|
G
|
Kcnma1
|
potassium calcium-activated channel subfamily M alpha 1
|
|
IEP
|
mRNA, protein:decreased expression:aorta, smooth muscle
|
RGD |
PMID:24589593 |
RGD:10412030 |
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
|
|
G
|
Kcnmb1
|
potassium calcium-activated channel subfamily M regulatory beta subunit 1
|
|
IEP
|
protein:decreased expression:aorta, smooth muscle
|
RGD |
PMID:24589593 |
RGD:10412030 |
NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
|
|
G
|
Kcnn4
|
potassium calcium-activated channel subfamily N member 4
|
ameliorates
|
IEP
|
mRNA, protein:increased expression:aorta, smooth muscle
|
RGD |
PMID:24589593 PMID:29167619 |
RGD:10412030, RGD:401784495 |
NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340
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|
G
|
Kdm6a
|
lysine demethylase 6A
|
|
IEP
|
|
RGD |
PMID:31266808 |
RGD:151665138 |
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
|
|
G
|
Kdr
|
kinase insert domain receptor
|
|
ISO IEP
|
mRNA:decreased expression:skeletal muscle mRNA:increased expression:retina mRNA:decreased expression:heart
|
RGD |
PMID:16816123 PMID:22121831 PMID:16741021 |
RGD:2313725, RGD:5684538, RGD:2313724 |
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
|
|
G
|
Khk
|
ketohexokinase
|
|
IEP
|
|
RGD |
PMID:6088170 |
RGD:2302253 |
NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717
|
|
G
|
Kif1a
|
kinesin family member 1A
|
|
IEP
|
mRNA:increased expression:hippocampus
|
RGD |
PMID:23776493 |
RGD:11059542 |
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
|
|
G
|
Kif5b
|
kinesin family member 5B
|
|
IEP
|
mRNA:increased expression:hippocampus
|
RGD |
PMID:23776493 |
RGD:11059542 |
NCBI chr17:51,489,904...51,527,508
Ensembl chr17:51,489,944...51,527,508
|
|
G
|
Kit
|
KIT proto-oncogene receptor tyrosine kinase
|
|
IEP
|
protein:increased expression:pancreas
|
RGD |
PMID:17235568 |
RGD:2311225 |
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
|
|
G
|
Klk1
|
kallikrein 1
|
|
IEP
|
mRNA:decreased expression:myocardium
|
RGD |
PMID:10604522 |
RGD:1641812 |
NCBI chr 1:103,779,152...103,783,270
Ensembl chr 1:94,642,687...94,646,754
|
|
G
|
Kmt5c
|
lysine methyltransferase 5C
|
|
IEP
|
mRNA:increased expression:retina
|
RGD |
PMID:21357467 |
RGD:9586742 |
NCBI chr 1:69,099,531...69,107,145
Ensembl chr 1:69,099,539...69,107,145
|
|
G
|
Lcn2
|
lipocalin 2
|
|
IEP
|
mRNA:increased expression:retina (rat) protein:increased expression:urine
|
RGD |
PMID:15623795 PMID:23085980 |
RGD:2316515, RGD:7245484 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G
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Lct
|
lactase
|
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IDA
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RGD |
PMID:16021836 |
RGD:1600251 |
NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
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G
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Ldlr
|
low density lipoprotein receptor
|
|
IEP
|
mRNA:decreased expression:liver
|
RGD |
PMID:18054320 |
RGD:2324626 |
NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580
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G
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Lep
|
leptin
|
onset
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IMP ISO IDA
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:28242381 PMID:31313498 PMID:31483951 PMID:19491210 PMID:19428774 PMID:20695765 More...
|
RGD:2311124, RGD:2311126, RGD:5128579 |
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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G
|
Lepr
|
leptin receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15093691 PMID:16427799 PMID:17065336 PMID:19452630 PMID:19478208 PMID:20567778 PMID:22933112 PMID:24263156 PMID:26939912 PMID:27151219 PMID:30635400 PMID:35472412 PMID:36066211 PMID:39059604 More...
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NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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G
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Lgals3
|
galectin 3
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treatment
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IEP
|
|
RGD |
PMID:21249158 |
RGD:9685210 |
NCBI chr15:23,099,795...23,111,731
Ensembl chr15:20,607,692...20,632,025
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G
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Lipc
|
lipase C, hepatic type
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IDA IEP
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protein:decreased activity:liver (rat)
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RGD |
PMID:18758746 PMID:1868959 |
RGD:2307432, RGD:2308849 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G
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Litaf
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lipopolysaccharide-induced TNF factor
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IEP
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protein:increased expression:retina
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RGD |
PMID:21575160 |
RGD:11533943 |
NCBI chr10:5,163,258...5,199,930
Ensembl chr10:4,625,552...4,692,763
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G
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Lpin1
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lipin 1
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IEP
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mRNA:increased expression:skeletal muscle
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RGD |
PMID:14718385 |
RGD:1641826 |
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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G
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Lpl
|
lipoprotein lipase
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treatment
|
IEP IDA
|
|
RGD |
PMID:18780778 PMID:27158912 |
RGD:2313303, RGD:13794379 |
NCBI chr16:25,596,205...25,621,928
Ensembl chr16:20,829,465...20,855,249
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G
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Lrp2
|
LDL receptor related protein 2
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IEP
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protein:decreased expression:kidney, proximal convoluted tubule, apical plasma membrane
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RGD |
PMID:11685557 |
RGD:1641843 |
NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708
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G
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Ltbp1
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latent transforming growth factor beta binding protein 1
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|
IEP
|
|
RGD |
PMID:17574405 |
RGD:2302087 |
NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
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G
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Mafa
|
MAF bZIP transcription factor A
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treatment
|
ISO
|
|
RGD |
PMID:28487936 |
RGD:13506743 |
NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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G
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Map2k3
|
mitogen activated protein kinase kinase 3
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IEP
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mRNA:increased expression:kidney, glomerulus
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RGD |
PMID:11473637 |
RGD:7495813 |
NCBI chr10:46,107,639...46,128,986
Ensembl chr10:45,607,163...45,629,492
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G
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Map2k6
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mitogen-activated protein kinase kinase 6
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|
IEP
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mRNA:increased expression:kidney, glomerulus
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RGD |
PMID:11473637 |
RGD:7495813 |
NCBI chr10:95,872,747...95,987,747
Ensembl chr10:95,373,204...95,488,293
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G
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Map3k5
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mitogen-activated protein kinase kinase kinase 5
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:18342293 |
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NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:14,685,492...14,904,800
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G
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Map3k8
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mitogen-activated protein kinase kinase kinase 8
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IEP
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protein:increased activity:serum:
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RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216
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G
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Mapk1
|
mitogen activated protein kinase 1
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IEP IDA
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protein:decreased phosphorylation:cornea
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RGD |
PMID:22045654 PMID:21330660 |
RGD:7243969, RGD:5131482 |
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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G
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Mapk3
|
mitogen activated protein kinase 3
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IDA
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protein:decreased phosphorylation:cornea
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RGD |
PMID:21330660 |
RGD:5131482 |
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
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G
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Mapt
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microtubule-associated protein tau
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treatment
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IDA
|
|
RGD |
PMID:28400135 |
RGD:13800903 |
NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129
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G
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Mas1
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MAS1 proto-oncogene, G protein-coupled receptor
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IEP
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mRNA:increased expression:renal cortex (rat)
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RGD |
PMID:18679036 |
RGD:2313799 |
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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G
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Mbp
|
myelin basic protein
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IDA
|
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RGD |
PMID:23667870 |
RGD:7327197 |
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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G
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Mdm2
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MDM2 proto-oncogene
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IEP
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protein:increased degradation:myocardium
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RGD |
PMID:23530877 |
RGD:10412313 |
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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G
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Mef2a
|
myocyte enhancer factor 2a
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IEP
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mRNA:increased expression:heart
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RGD |
PMID:18413674 |
RGD:2312263 |
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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G
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Mef2c
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myocyte enhancer factor 2C
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IEP
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mRNA:increased expression:heart
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RGD |
PMID:18413674 |
RGD:2312263 |
NCBI chr 2:15,708,732...15,871,639
Ensembl chr 2:13,993,438...14,132,880
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G
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Met
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MET proto-oncogene, receptor tyrosine kinase
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IEP
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mRNA, protein:increased expression:kidney, tubule, epithelium (rat)
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RGD |
PMID:8997394 |
RGD:2317555 |
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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G
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Mfge8
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milk fat globule EGF and factor V/VIII domain containing
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:21505870 |
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NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
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G
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Mfn2
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mitofusin 2
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treatment
|
IEP
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protein:increased expression:heart, mitochondrion (rat)
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RGD |
PMID:28483572 PMID:27998959 |
RGD:12910731, RGD:12910739 |
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
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G
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Mif
|
macrophage migration inhibitory factor
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ISO
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protein:increased expression:pancreatic islet
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RGD |
PMID:15790730 |
RGD:1641951 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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G
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Mmp1
|
matrix metallopeptidase 1
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IEP
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protein:increased expression:periodontal ligament, alveolar bone of mandible (rat)
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RGD |
PMID:20082587 |
RGD:7207377 |
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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G
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Mmp2
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matrix metallopeptidase 2
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21963884 |
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NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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G
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Mmp9
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matrix metallopeptidase 9
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treatment
|
IEP ISO
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protein:increased expression:kidney CTD Direct Evidence: marker/mechanism mRNA:increased expression:retina
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CTD RGD |
PMID:21963884 PMID:22191573 PMID:17569353 PMID:23089644 PMID:23423566 |
RGD:2290354, RGD:8547974, RGD:8547881 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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G
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Mpo
|
myeloperoxidase
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|
IEP ISO
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protein:increased activity:liver: CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:20388520 PMID:18436980 |
RGD:2317971 |
NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819
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|
G
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Mt-co2
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mitochondrially encoded cytochrome c oxidase II
|
|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14563825 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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|
G
|
Mt-cyb
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mitochondrially encoded cytochrome b
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|
IEP
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mRNA:decreased expression:heart
|
RGD |
PMID:15126286 |
RGD:1578536 |
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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|
G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14563825 |
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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|
G
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Mthfr
|
methylenetetrahydrofolate reductase
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|
IEP
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protein:decreased activity:kidney (rat)
|
RGD |
PMID:9836532 |
RGD:6893689 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G
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Mtor
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mechanistic target of rapamycin kinase
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|
IDA
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protein:hyperphosphorylation:muscle
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RGD |
PMID:28536139 |
RGD:13506787 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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|
G
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Mtr
|
5-methyltetrahydrofolate-homocysteine methyltransferase
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|
IEP
|
protein:decreased activity:liver
|
RGD |
PMID:18936199 |
RGD:7207081 |
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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|
G
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Myc
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MYC proto-oncogene, bHLH transcription factor
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IEP
|
mRNA:increased expression:renal cortex (rat)
|
RGD |
PMID:18030501 |
RGD:7207459 |
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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|
G
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Nampt
|
nicotinamide phosphoribosyltransferase
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|
IEP
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protein:decreased expression:fat cell
|
RGD |
PMID:18410550 |
RGD:2311099 |
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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|
G
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Ncf1
|
neutrophil cytosolic factor 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14871415 PMID:16380483 |
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NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646
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G
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Ncf2
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neutrophil cytosolic factor 2
|
|
IDA IEP
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protein:altered localization:glomerulus protein:increased expression:heart, membrane fraction
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RGD |
PMID:14514646 PMID:18061195 |
RGD:2314451, RGD:2314434 |
NCBI chr13:67,505,492...67,536,015
Ensembl chr13:64,955,503...64,986,277
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G
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Ndufs2
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NADH:ubiquinone oxidoreductase core subunit S2
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IEP
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protein:decreased expression:dorsal root ganglia (rat)
|
RGD |
PMID:20876714 |
RGD:6484699 |
NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420
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G
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Ndufs3
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NADH:ubiquinone oxidoreductase core subunit S3
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IEP
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protein:decreased expression:dorsal root ganglia (rat) mRNA, protein:decreased expression:brain
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RGD |
PMID:20876714 PMID:22387129 |
RGD:6484699, RGD:13824971 |
NCBI chr 3:97,332,477...97,339,654
Ensembl chr 3:76,876,646...76,883,824
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G
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Nefh
|
neurofilament heavy chain
|
treatment
|
IEP
|
|
RGD |
PMID:12941778 |
RGD:9698428 |
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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G
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Nefm
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neurofilament medium chain
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treatment
|
IEP
|
|
RGD |
PMID:12941778 |
RGD:9698428 |
NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
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|
G
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Neurod1
|
neuronal differentiation 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
|
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G
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Neurog3
|
neurogenin 3
|
|
ISO
|
|
RGD |
PMID:19819964 |
RGD:2313774 |
NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
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|
G
|
Nfe2l2
|
NFE2 like bZIP transcription factor 2
|
treatment
|
ISO IEP
|
protein:increased localization:blood, mononuclear cell, nucleus
|
RGD |
PMID:22869588 PMID:23331247 PMID:24740568 |
RGD:10412694, RGD:7244270, RGD:10412720 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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|
G
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Nfkb2
|
nuclear factor kappa B subunit 2
|
|
IEP
|
|
RGD |
PMID:18633731 |
RGD:2298775 |
NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213
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|
G
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Nfkbia
|
NFKB inhibitor alpha
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treatment
|
IEP IDA
|
protein:decreased expression:kidney
|
RGD |
PMID:22483164 PMID:20188823 |
RGD:10413864, RGD:10413873 |
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941
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|
G
|
Ngf
|
nerve growth factor
|
treatment
|
IEP ISO
|
mRNA, protein:decreased expression:sciatic nerve protein:decreased processing:hippocampus protein:increased expression:retina
|
RGD |
PMID:19149268 PMID:25728260 PMID:26282349 PMID:21136036 |
RGD:2303795, RGD:402463972, RGD:402463971, RGD:5144144 |
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
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|
G
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Ngfr
|
nerve growth factor receptor
|
|
IEP
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protein:increased expression:retina protein:decreased expression:telencephalon
|
RGD |
PMID:21136036 PMID:26282349 |
RGD:5144144, RGD:402463971 |
NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518
|
|
G
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Nkx6-1
|
NK6 homeobox 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr14:8,274,238...8,281,171
Ensembl chr14:7,969,756...7,976,681
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|
G
|
Nos1
|
nitric oxide synthase 1
|
|
IDA
|
protein:decreased dimerization:stomach
|
RGD |
PMID:17347455 |
RGD:1642144 |
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945
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|
G
|
Nos2
|
nitric oxide synthase 2
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no_association
|
IEP ISO
|
associated with Infarction, Middle Cerebral Artery; protein:increased expression:brain (rat) CTD Direct Evidence: marker/mechanism protein:increased expression:renal glomerulus (rat)
|
CTD RGD |
PMID:16380483 PMID:16959961 PMID:21993016 PMID:9349594 |
RGD:5509105, RGD:5509107 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
|
|
G
|
Nos3
|
nitric oxide synthase 3
|
treatment
|
IDA IEP ISO
|
CTD Direct Evidence: marker/mechanism protein:decreased expression:thoracic aorta (mouse) protein:increased expression:heart
|
CTD RGD |
PMID:11696579 PMID:14871415 PMID:15490108 PMID:16959961 PMID:18266981 PMID:19478208 PMID:22191573 PMID:22933112 PMID:18825362 PMID:28976888 PMID:21050844 PMID:21050844 PMID:18287592 More...
|
RGD:4892007, RGD:13450939, RGD:7777108, RGD:7777108, RGD:2292100 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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|
G
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Nox4
|
NADPH oxidase 4
|
|
IEP
|
protein:increased expression:aorta
|
RGD |
PMID:19686728 |
RGD:2324658 |
NCBI chr 1:150,313,736...150,491,480
Ensembl chr 1:140,901,097...141,077,406
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|
G
|
Npc1l1
|
NPC1 like intracellular cholesterol transporter 1
|
|
IEP
|
mRNA:increased expression:intestine, liver
|
RGD |
PMID:17292734 |
RGD:1642185 |
NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113
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|
G
|
Nppa
|
natriuretic peptide A
|
|
IEP
|
protein:decreased expression:retina protein:increased expression:plasma, kidney, heart;
|
RGD |
PMID:15789000 PMID:17151304 |
RGD:1580773, RGD:7248602 |
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
|
|
G
|
Nppb
|
natriuretic peptide B
|
|
IEP
|
protein:increased expression:atrium myocardium, plasma
|
RGD |
PMID:17151299 |
RGD:1642199 |
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
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|
G
|
Npy
|
neuropeptide Y
|
|
IEP
|
protein:increased expression:paraventricular nucleus of hypothalamus
|
RGD |
PMID:21042571 |
RGD:10448960 |
NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495
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|
G
|
Npy1r
|
neuropeptide Y receptor Y1
|
|
IEP
|
|
RGD |
PMID:18201831 |
RGD:10448967 |
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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|
G
|
Npy2r
|
neuropeptide Y receptor Y2
|
|
IEP
|
|
RGD |
PMID:18201831 |
RGD:10448967 |
NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
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|
G
|
Nqo1
|
NAD(P)H quinone dehydrogenase 1
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:23458895 |
|
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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G
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Nr1h3
|
nuclear receptor subfamily 1, group H, member 3
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|
IEP
|
DNA, mRNA, protein:hypomethylation, increased expression:promoter, heart
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RGD |
PMID:21136146 |
RGD:13831298 |
NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:77,158,808...77,168,722
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|
G
|
Nr1h4
|
nuclear receptor subfamily 1, group H, member 4
|
|
IEP
|
mRNA:decreased expression:liver
|
RGD |
PMID:15047603 |
RGD:1625080 |
NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:23,846,122...23,942,047
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|
G
|
Nr1i3
|
nuclear receptor subfamily 1, group I, member 3
|
treatment
|
IEP
|
|
RGD |
PMID:20636876 |
RGD:9835393 |
NCBI chr13:86,165,327...86,170,362
Ensembl chr13:83,632,899...83,637,906
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|
G
|
Nr3c1
|
nuclear receptor subfamily 3, group C, member 1
|
treatment
|
IEP
|
protein:increased expression:placenta
|
RGD |
PMID:21744335 PMID:26883980 |
RGD:12879479, RGD:14695543 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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|
G
|
Nrp1
|
neuropilin 1
|
|
ISO
|
mRNA:decreased expression:skeletal muscle
|
RGD |
PMID:16816123 |
RGD:2313725 |
NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633
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|
G
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Nt5e
|
5' nucleotidase, ecto
|
|
IEP
|
protein:increased expression:cerebral cortex, synaptosome (rat)
|
RGD |
PMID:19723569 |
RGD:5134343 |
NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881
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|
G
|
Ntrk1
|
neurotrophic receptor tyrosine kinase 1
|
|
IEP
|
protein:increased tyrosine nitration, decreased tyrosine phosphorylation:retina
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RGD |
PMID:21136036 PMID:22044876 |
RGD:5144144, RGD:5684337 |
NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770
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G
|
Ntrk2
|
neurotrophic receptor tyrosine kinase 2
|
treatment
|
IEP
|
|
RGD |
PMID:30816461 |
RGD:596936233 |
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136
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|
G
|
Ntrk3
|
neurotrophic receptor tyrosine kinase 3
|
|
IEP
|
mRNA:decreased expression:dorsal root ganglion
|
RGD |
PMID:9541170 |
RGD:2325654 |
NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:132,132,849...132,503,286
|
|
G
|
Ogg1
|
8-oxoguanine DNA glycosylase
|
|
IEP ISO
|
protein:altered localization:pancreatic islet
|
RGD |
PMID:18676009 PMID:18599524 PMID:15677345 |
RGD:2317137, RGD:8657153, RGD:8657146 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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|
G
|
Ogt
|
O-linked N-acetylglucosamine (GlcNAc) transferase
|
treatment
|
IDA
|
|
RGD |
PMID:15561949 |
RGD:9590198 |
NCBI chr X:70,811,317...70,856,123
Ensembl chr X:66,771,349...66,816,146
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G
|
Oprk1
|
opioid receptor, kappa 1
|
|
IEP
|
protein:increased expression:sciatic nerve, peroneal nerve:
|
RGD |
PMID:16924480 |
RGD:9834947 |
NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
|
|
G
|
Oprm1
|
opioid receptor, mu 1
|
|
IDA
|
|
RGD |
PMID:16901587 |
RGD:2316626 |
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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|
G
|
Osbp
|
oxysterol binding protein
|
|
IDA
|
protein:increased tyrosine phosphorylation:aorta
|
RGD |
PMID:18230613 |
RGD:2291921 |
NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506
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|
G
|
Otc
|
ornithine transcarbamylase
|
|
IEP
|
protein:decreased activity:small intestine (rat)
|
RGD |
PMID:9628242 |
RGD:4144123 |
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
|
|
G
|
Oxct1
|
3-oxoacid CoA transferase 1
|
|
IEP
|
protein:decreased activity:heart, mitochondrion (rat)
|
RGD |
PMID:3548709 |
RGD:2326100 |
NCBI chr 2:54,963,964...55,112,303
Ensembl chr 2:53,236,368...53,384,714
|
|
G
|
Parp1
|
poly (ADP-ribose) polymerase 1
|
|
ISO
|
|
RGD |
PMID:18657544 |
RGD:2312287 |
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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|
G
|
Pax6
|
paired box 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
|
|
G
|
Pc
|
pyruvate carboxylase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:201,804,267...201,898,380
|
|
G
|
Pck1
|
phosphoenolpyruvate carboxykinase 1
|
|
IDA ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20363216 PMID:17651728 |
RGD:2311641 |
NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:161,930,256...161,936,191
|
|
G
|
Pcsk1
|
proprotein convertase subtilisin/kexin type 1
|
|
IEP ISO
|
mRNA, protein:increased expression:spleen, spleen white pulp (rat) protein:increased expression:pancreatic alpha cell (mouse) mRNA, protein:increased expression:spleen (mouse)
|
RGD |
PMID:11730986 PMID:17698597 PMID:11730986 |
RGD:2308905, RGD:2308931, RGD:2308905 |
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
|
|
G
|
Pcsk2
|
proprotein convertase subtilisin/kexin type 2
|
|
IEP ISO
|
mRNA:increased expression:spleen CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:11730986 |
RGD:2308905 |
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
|
|
G
|
Pde3a
|
phosphodiesterase 3A
|
|
IEP
|
mRNA, protein:increased expression:mesenteric artery
|
RGD |
PMID:12793980 |
RGD:2300416 |
NCBI chr 4:175,904,276...176,170,531
Ensembl chr 4:174,172,868...174,438,274
|
|
G
|
Pde5a
|
phosphodiesterase 5A
|
|
IMP
|
|
RGD |
PMID:19542492 |
RGD:2314461 |
NCBI chr 2:213,542,822...213,687,638
Ensembl chr 2:210,858,063...210,999,701
|
|
G
|
Pdgfb
|
platelet derived growth factor subunit B
|
|
IEP IDA ISO
|
mRNA:increased expression:glomerulus mRNA: increased expression: mesenteric artery mRNA:increased expression:retina mRNA:decreased expression:retina
|
RGD |
PMID:8094359 PMID:9763208 PMID:21367419 PMID:12606528 PMID:14685146 |
RGD:2311650, RGD:10449499, RGD:6483042, RGD:1581759, RGD:2311648 |
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
|
|
G
|
Pdgfrb
|
platelet derived growth factor receptor beta
|
|
IEP
|
protein:increased expression:glomerulus
|
RGD |
PMID:10802145 |
RGD:2311654 |
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
|
|
G
|
Pdk4
|
pyruvate dehydrogenase kinase 4
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14563825 |
|
NCBI chr 4:33,591,796...33,601,798
Ensembl chr 4:33,589,799...33,601,850
|
|
G
|
Pdp2
|
pyruvate dehydrogenase phosphatase catalytic subunit 2
|
|
IEP
|
|
RGD |
PMID:12765946 |
RGD:1582364 |
NCBI chr19:392,858...400,529
Ensembl chr19:386,406...394,074
|
|
G
|
Pdx1
|
pancreatic and duodenal homeobox 1
|
|
IMP ISO IEP
|
CTD Direct Evidence: marker/mechanism protein:increased expression:pancreatic delta cell (rat) protein:increased expression:pancreas (rat)
|
CTD RGD |
PMID:16123366 PMID:17460716 PMID:15561947 PMID:14988244 PMID:17235568 PMID:17226789 More...
|
RGD:2311224, RGD:2311226, RGD:1357906, RGD:2311225, RGD:2311311 |
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
|
|
G
|
Pdyn
|
prodynorphin
|
|
IEP
|
protein:increased expression:sciatic nerve, peroneal nerve, tibial nerve, footpad skin:
|
RGD |
PMID:16924480 |
RGD:9834947 |
NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:116,900,992...116,913,334
|
|
G
|
Pecam1
|
platelet and endothelial cell adhesion molecule 1
|
|
IEP
|
protein:decreased expression:corpus callosum, endothelium (rat)
|
RGD |
PMID:21967314 |
RGD:6771179 |
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
|
|
G
|
Pemt
|
phosphatidylethanolamine N-methyltransferase
|
|
IEP
|
protein:increased expression:liver
|
RGD |
PMID:17116711 |
RGD:1642370 |
NCBI chr10:45,275,434...45,349,651
Ensembl chr10:44,775,911...44,850,013
|
|
G
|
Pfas
|
phosphoribosylformylglycinamidine synthase
|
|
IEP
|
protein:increased activity:liver (rat)
|
RGD |
PMID:3043317 |
RGD:5135485 |
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
|
|
G
|
Pfkm
|
phosphofructokinase, muscle
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:14563825 |
|
NCBI chr 7:131,100,684...131,138,250
Ensembl chr 7:129,221,653...129,259,192
|
|
G
|
Pgf
|
placental growth factor
|
|
IEP
|
mRNA, protein:decreased expression:placenta, trophoblast cell
|
RGD |
PMID:17917370 |
RGD:6483782 |
NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685
|
|
G
|
Phka1
|
phosphorylase kinase regulatory subunit alpha 1
|
|
IDA
|
|
RGD |
PMID:11692172 |
RGD:1599897 |
NCBI chr X:71,639,701...71,778,465
Ensembl chr X:67,601,302...67,738,455
|
|
G
|
Pik3r1
|
phosphoinositide-3-kinase regulatory subunit 1
|
|
IEP
|
protein:increased expression:gastrocnemius (rat)
|
RGD |
PMID:18430054 |
RGD:2307338 |
NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631
|
|
G
|
Pklr
|
pyruvate kinase L/R
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20363216 PMID:16900249 |
RGD:1625589 |
NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:174,543,039...174,551,870
|
|
G
|
Plcb3
|
phospholipase C beta 3
|
|
IEP
|
protein:decreased expression:heart left ventricle
|
RGD |
PMID:15362504 |
RGD:2314509 |
NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
|
|
G
|
Plcg1
|
phospholipase C, gamma 1
|
|
IEP
|
protein:increased tyrosine phosphorylation:lens
|
RGD |
PMID:17612968 |
RGD:2299877 |
NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330
|
|
G
|
Pnmt
|
phenylethanolamine-N-methyltransferase
|
|
IEP
|
protein:increased expression:adrenal gland (rat)
|
RGD |
PMID:16396986 |
RGD:5130724 |
NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
|
|
G
|
Polg
|
DNA polymerase gamma, catalytic subunit
|
|
IEP ISO IDA
|
mRNA,protein:decreased expression:retina,mitochondrion: DNA:hypermethylation:promoter:
|
RGD |
PMID:22743328 PMID:22229649 PMID:22743328 |
RGD:8694093, RGD:8694187, RGD:8694093 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
G
|
Polg2
|
DNA polymerase gamma 2, accessory subunit
|
|
ISO
|
mRNA,protein:decreased expression:retina,mitochondrion:
|
RGD |
PMID:22229649 |
RGD:8694187 |
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
|
|
G
|
Pon1
|
paraoxonase 1
|
|
ISO
|
|
RGD |
PMID:18358245 PMID:18358245 |
RGD:2313268, RGD:2313268 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
|
|
G
|
Ppara
|
peroxisome proliferator activated receptor alpha
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12967931 PMID:14563825 PMID:23090186 |
|
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
|
|
G
|
Ppard
|
peroxisome proliferator-activated receptor delta
|
|
IEP
|
mRNA, protein:decreased expression:heart
|
RGD |
PMID:18573863 |
RGD:2313781 |
NCBI chr20:6,300,527...6,365,707
Ensembl chr20:6,298,785...6,363,968
|
|
G
|
Pparg
|
peroxisome proliferator-activated receptor gamma
|
|
IEP ISO
|
mRNA:altered expression:aorta, kidney cortex, retina CTD Direct Evidence: marker/mechanism protein:decreased expression:retina
|
CTD RGD |
PMID:12967931 PMID:16123366 PMID:21757225 PMID:18641696 PMID:18806296 |
RGD:2301849, RGD:2301844 |
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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|
G
|
Ppargc1a
|
PPARG coactivator 1 alpha
|
treatment
|
IEP ISO IMP IDA
|
mRNA:decreased expression:pancreatic islet CTD Direct Evidence: marker/mechanism protein:decreased expression:dorsal root ganglia (mouse)
|
CTD RGD |
PMID:14563825 PMID:18270681 PMID:19520786 PMID:22561641 PMID:23272147 |
RGD:2311391, RGD:2311445, RGD:7242175, RGD:7241845 |
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
|
|
G
|
Ppat
|
phosphoribosyl pyrophosphate amidotransferase
|
|
IEP
|
protein:increased activity:kidney (rat)
|
RGD |
PMID:2451505 |
RGD:5135016 |
NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
|
|
G
|
Prkaa2
|
protein kinase AMP-activated catalytic subunit alpha 2
|
treatment
|
IEP
|
|
RGD |
PMID:32535406 |
RGD:401850547 |
NCBI chr 5:125,036,945...125,109,010
Ensembl chr 5:119,813,226...119,879,543
|
|
G
|
Prkca
|
protein kinase C, alpha
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12198386 |
|
NCBI chr10:93,388,991...93,787,617
Ensembl chr10:92,894,012...93,288,012
|
|
G
|
Prkcb
|
protein kinase C, beta
|
|
IEP
|
protein:increased expression:myocardium
|
RGD |
PMID:17250813 |
RGD:1625511 |
NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:176,832,226...177,163,536
|
|
G
|
Prkcd
|
protein kinase C, delta
|
|
IEP ISO
|
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12198386 PMID:11576956 |
RGD:1642532 |
NCBI chr16:5,775,681...5,806,122
Ensembl chr16:5,769,215...5,799,352
|
|
G
|
Prkce
|
protein kinase C, epsilon
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12198386 |
|
NCBI chr 6:13,718,050...14,204,931
Ensembl chr 6:7,965,048...8,451,719
|
|
G
|
Prkci
|
protein kinase C, iota
|
|
IEP
|
protein:increased expression:ventricle myocardium, membrane fraction
|
RGD |
PMID:14691046 |
RGD:2314944 |
NCBI chr 2:114,250,398...114,310,784
Ensembl chr 2:112,321,929...112,382,352
|
|
G
|
Prkg1
|
protein kinase cGMP-dependent 1
|
treatment
|
IEP
|
protein:decreased expression:aorta
|
RGD |
PMID:20186099 PMID:15939056 |
RGD:7775064, RGD:7777110 |
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
|
|
G
|
Prkra
|
protein activator of interferon induced protein kinase EIF2AK2
|
|
IEP
|
|
RGD |
PMID:21897745 |
RGD:7777145 |
NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
|
|
G
|
Psmb9
|
proteasome 20S subunit beta 9
|
|
IEP
|
mRNA:increased expression:hippocampus (rat)
|
RGD |
PMID:20968039 |
RGD:9850284 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
|
|
G
|
Ptgis
|
prostaglandin I2 synthase
|
treatment
|
IEP
|
|
RGD |
PMID:8888351 |
RGD:401960094 |
NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451
|
|
G
|
Ptgs1
|
prostaglandin-endoperoxide synthase 1
|
|
IEP
|
protein:decreased expression:spinal cord
|
RGD |
PMID:12086957 |
RGD:727386 |
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
|
|
G
|
Ptgs2
|
prostaglandin-endoperoxide synthase 2
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism protein:increased expression:lung protein:increased expression:sciatic nerve
|
CTD RGD |
PMID:14514642 PMID:21414306 PMID:18706904 PMID:21521772 PMID:17720896 |
RGD:2300222, RGD:5135278, RGD:1642588 |
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
|
|
G
|
Ptpn1
|
protein tyrosine phosphatase, non-receptor type 1
|
|
ISO
|
protein:increased activity:retina (mouse)
|
RGD |
PMID:19029027 |
RGD:401965415 |
NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:156,638,769...156,687,504
|
|
G
|
Ptprn
|
protein tyrosine phosphatase, receptor type, N
|
severity
|
ISO
|
|
RGD |
PMID:19513530 |
RGD:2313594 |
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
|
|
G
|
Ptpru
|
protein tyrosine phosphatase, receptor type, U
|
|
IEP
|
protein:decreased expression:glomerulus
|
RGD |
PMID:16539708 |
RGD:1642656 |
NCBI chr 5:149,234,624...149,308,857
Ensembl chr 5:143,950,965...144,024,768
|
|
G
|
Pygm
|
glycogen phosphorylase, muscle associated
|
|
IDA
|
protein:increased expression:sarcoplasmic reticulum
|
RGD |
PMID:11692172 |
RGD:1599897 |
NCBI chr 1:213,119,805...213,134,622
Ensembl chr 1:203,690,533...203,705,368
|
|
G
|
Qdpr
|
quinoid dihydropteridine reductase
|
|
IEP
|
protein:decreased activity:brain (rat)
|
RGD |
PMID:2758679 |
RGD:5128601 |
NCBI chr14:69,882,776...69,896,378
Ensembl chr14:65,670,131...65,683,854
|
|
G
|
Ramp2
|
receptor activity modifying protein 2
|
|
IEP
|
mRNA:increased expression:kidney
|
RGD |
PMID:14717924 |
RGD:1642701 |
NCBI chr10:86,689,148...86,690,956
Ensembl chr10:86,188,812...86,231,829
|
|
G
|
Rap1b
|
RAP1B, member of RAS oncogene family
|
|
IEP
|
protein:increased expression:renal glomerulus (rat)
|
RGD |
PMID:12196513 |
RGD:10041023 |
NCBI chr 7:55,308,922...55,342,217
Ensembl chr 7:53,423,130...53,456,370
|
|
G
|
Rasgrf1
|
RAS protein-specific guanine nucleotide-releasing factor 1
|
|
IEP
|
protein:decreased expression:brain, membrane (rat)
|
RGD |
PMID:19002579 |
RGD:10003129 |
NCBI chr 8:99,324,986...99,454,099
Ensembl chr 8:90,445,154...90,574,269
|
|
G
|
Rbfox2
|
RNA binding fox-1 homolog 2
|
|
ISO
|
mRNA:splice variant: heart (mouse) protein:increased expression:heart, cytoplasm (mouse)
|
RGD |
PMID:27239029 PMID:24151077 |
RGD:329845874, RGD:329848997 |
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
|
|
G
|
Reg1a
|
regenerating family member 1 alpha
|
treatment
|
IDA IEP
|
protein:increased expression:pancreas, islet cell (rat)
|
RGD |
PMID:8170952 PMID:8574288 |
RGD:9850123, RGD:9850143 |
NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570
|
|
G
|
Reg3b
|
regenerating family member 3 beta
|
susceptibility
|
ISO
|
|
RGD |
PMID:21245462 |
RGD:9831432 |
NCBI chr 4:112,419,776...112,423,014
Ensembl chr 4:110,861,775...110,865,015
|
|
G
|
Rela
|
RELA proto-oncogene, NF-kB subunit
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism protein:increased expression:nucleus, skeletal muscle, liver
|
CTD RGD |
PMID:22138235 PMID:18633731 PMID:18500427 |
RGD:2298775, RGD:2298780 |
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
|
|
G
|
Ren
|
renin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18829990 |
|
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489
|
|
G
|
Rgn
|
regucalcin
|
|
IEP
|
protein:decreased expression:liver
|
RGD |
PMID:9062895 |
RGD:9590177 |
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
|
|
G
|
Rhoa
|
ras homolog family member A
|
|
IDA
|
|
RGD |
PMID:17589825 |
RGD:1642825 |
NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
|
|
G
|
Rpe65
|
retinoid isomerohydrolase RPE65
|
|
IEP
|
mRNA:decreased expression:retina (rat)
|
RGD |
PMID:21862641 |
RGD:9585653 |
NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403
|
|
G
|
Ryr2
|
ryanodine receptor 2
|
|
IDA
|
|
RGD |
PMID:17027851 |
RGD:1599247 |
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
|
|
G
|
S100a6
|
S100 calcium binding protein A6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
|
|
G
|
S100b
|
S100 calcium binding protein B
|
|
IEP
|
protein:increased expression:cerebellum, cerebral cortex, hippocampus protein:altered expression:hippocampus, astrocyte
|
RGD |
PMID:14583344 PMID:18708122 |
RGD:5508821, RGD:5508836 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
|
|
G
|
S1pr2
|
sphingosine-1-phosphate receptor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22406263 |
|
NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
|
|
G
|
S1pr4
|
sphingosine-1-phosphate receptor 4
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22406263 |
|
NCBI chr 7:8,207,767...8,210,043
Ensembl chr 7:8,208,098...8,211,893
|
|
G
|
S1pr5
|
sphingosine-1-phosphate receptor 5
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22406263 |
|
NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795
|
|
G
|
Scap
|
SREBF chaperone
|
|
IEP
|
|
RGD |
PMID:20973890 |
RGD:5490977 |
NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666
|
|
G
|
Scd
|
stearoyl-CoA desaturase
|
treatment
|
IEP
|
|
RGD |
PMID:32535406 |
RGD:401850547 |
NCBI chr 1:253,218,968...253,232,101
Ensembl chr 1:243,269,747...243,282,562
|
|
G
|
Scp2
|
sterol carrier protein 2
|
treatment
|
IEP
|
|
RGD |
PMID:7628371 |
RGD:9850252 |
NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
|
|
G
|
Selp
|
selectin P
|
treatment
|
IDA
|
|
RGD |
PMID:18095572 |
RGD:2312301 |
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845
|
|
G
|
Serpinc1
|
serpin family C member 1
|
treatment
|
IDA IEP
|
|
RGD |
PMID:22309505 PMID:24671746 |
RGD:11035271, RGD:11035293 |
NCBI chr13:75,790,558...75,804,826
Ensembl chr13:73,257,179...73,284,293
|
|
G
|
Serpine1
|
serpin family E member 1
|
|
ISO
|
protein:increased expression:heart (mouse) CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:21757225 PMID:20630999 |
RGD:8547862 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
|
|
G
|
Serpinf1
|
serpin family F member 1
|
|
IEP
|
protein:decreased expression:platelet
|
RGD |
PMID:19237211 |
RGD:2312338 |
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
|
|
G
|
Si
|
sucrase-isomaltase
|
|
IEP
|
protein:increased expression:small intestine mucosa
|
RGD |
PMID:12940455 |
RGD:1625543 |
NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
|
|
G
|
Sirt1
|
sirtuin 1
|
treatment
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:23090186 PMID:23792339 PMID:22179968 |
RGD:9586012 |
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
|
|
G
|
Slc1a3
|
solute carrier family 1 member 3
|
treatment
|
IEP
|
|
RGD |
PMID:23595285 |
RGD:401794586 |
NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:57,755,497...57,830,605
|
|
G
|
Slc22a1
|
solute carrier family 22 member 1
|
|
IDA
|
|
RGD |
PMID:14718608 |
RGD:2317435 |
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
|
|
G
|
Slc22a2
|
solute carrier family 22 member 2
|
|
IEP
|
protein:decreased expression:kidney
|
RGD |
PMID:19356064 |
RGD:2312728 |
NCBI chr 1:50,668,817...50,711,019
Ensembl chr 1:48,121,061...48,163,268
|
|
G
|
Slc28a2
|
solute carrier family 28 member 2
|
|
IDA
|
|
RGD |
PMID:16014043 |
RGD:2317455 |
NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
|
|
G
|
Slc28a3
|
solute carrier family 28 member 3
|
|
IDA
|
|
RGD |
PMID:16014043 |
RGD:2317455 |
NCBI chr17:6,062,563...6,112,965
Ensembl chr17:6,062,549...6,114,038
|
|
G
|
Slc29a1
|
solute carrier family 29 member 1
|
|
IEP
|
mRNA:decreased expression:cardiac muscle cell
|
RGD |
PMID:16873415 |
RGD:2316941 |
NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
|
|
G
|
Slc2a1
|
solute carrier family 2 member 1
|
treatment
|
IEP
|
mRNA, protein:decreased expression:brain
|
RGD |
PMID:17935675 PMID:8345816 |
RGD:2313617, RGD:12879858 |
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
|
|
G
|
Slc2a2
|
solute carrier family 2 member 2
|
|
IEP ISO
|
mRNA:increased expression:kidney CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:19433262 |
RGD:2312358 |
NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:111,611,774...111,639,933
|
|
G
|
Slc2a3
|
solute carrier family 2 member 3
|
|
IEP
|
mRNA, protein:decreased expression:brain
|
RGD |
PMID:17935675 |
RGD:2313617 |
NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472
|
|
G
|
Slc2a4
|
solute carrier family 2 member 4
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:11947963 PMID:14563825 PMID:18266981 PMID:22138235 PMID:19252289 |
RGD:2313621 |
NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565
|
|
G
|
Slc37a4
|
solute carrier family 37 member 4
|
|
IEP
|
protein:increased expression:liver
|
RGD |
PMID:10567346 |
RGD:1625641 |
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
|
|
G
|
Slc38a2
|
solute carrier family 38, member 2
|
|
IEP
|
|
RGD |
PMID:11798158 |
RGD:9999213 |
NCBI chr 7:129,730,450...129,742,619
Ensembl chr 7:127,851,267...127,863,436
|
|
G
|
Slc8a1
|
solute carrier family 8 member A1
|
|
IEP
|
mRNA, protein:decreased expression:cardiac muscle cell
|
RGD |
PMID:10944172 |
RGD:1642714 |
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
|
|
G
|
Slc9a1
|
solute carrier family 9 member A1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20003708 |
|
NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:145,576,334...145,629,624
|
|
G
|
Slc9a3
|
solute carrier family 9 member A3
|
|
IDA ISO
|
protein:increased activity:kidney cortex CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20003708 PMID:16244498 |
RGD:1625673 |
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
|
|
G
|
Smad1
|
SMAD family member 1
|
severity
|
IEP
|
protein:increased expression:glomerulus, urine
|
RGD |
PMID:16482100 |
RGD:1643228 |
NCBI chr19:45,417,430...45,477,962
Ensembl chr19:28,513,131...28,573,651
|
|
G
|
Smarca4
|
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
|
treatment
|
IEP
|
|
RGD |
PMID:23853776 |
RGD:9586347 |
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
|
|
G
|
Smpd1
|
sphingomyelin phosphodiesterase 1
|
|
IDA
|
protein:decreased expression:gastrocnemius
|
RGD |
PMID:14983401 |
RGD:1601347 |
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
|
|
G
|
Snap25
|
synaptosome associated protein 25
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:124,041,898...124,123,760
|
|
G
|
Soat2
|
sterol O-acyltransferase 2
|
|
IDA
|
|
RGD |
PMID:15242859 |
RGD:1581191 |
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
|
|
G
|
Socs3
|
suppressor of cytokine signaling 3
|
susceptibility
|
IEP ISO
|
mRNA, protein:increased expression:retina
|
RGD |
PMID:18356406 PMID:17562326 |
RGD:2298911, RGD:2313787 |
NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,193,537...103,197,787
|
|
G
|
Sod1
|
superoxide dismutase 1
|
|
IEP ISO
|
protein:increased expression:hippocampus (rat) associated with alcohol use disorder; protein:decreased activity;testis, epididymis (rat) CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:23090186 PMID:20924670 PMID:25541261 |
RGD:8655956, RGD:405255664 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
|
|
G
|
Sod2
|
superoxide dismutase 2
|
|
IEP ISO
|
protein:increased activity:testes CTD Direct Evidence: marker/mechanism|therapeutic
|
CTD RGD |
PMID:15855331 PMID:23090186 PMID:19891634 |
RGD:2317382 |
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
|
|
G
|
Sord
|
sorbitol dehydrogenase
|
|
IEP
|
protein:increased expression:liver
|
RGD |
PMID:15064821 |
RGD:1601360 |
NCBI chr 3:129,638,282...129,669,727
Ensembl chr 3:109,184,676...109,216,133
|
|
G
|
Sox2
|
SRY-box transcription factor 2
|
|
IEP
|
|
RGD |
PMID:23828673 |
RGD:8661677 |
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
|
|
G
|
Spp1
|
secreted phosphoprotein 1
|
|
IDA
|
|
RGD |
PMID:16528250 |
RGD:1581322 |
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
|
|
G
|
Srebf1
|
sterol regulatory element binding transcription factor 1
|
treatment
|
IEP ISO
|
mRNA, protein:increased expression:renal proximal tubule, epithelial cell CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:10900012 PMID:23090186 PMID:19048273 PMID:32535406 |
RGD:2308804, RGD:401850547 |
NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650
|
|
G
|
Sstr1
|
somatostatin receptor 1
|
|
IEP
|
|
RGD |
PMID:7956902 |
RGD:2325008 |
NCBI chr 6:81,567,237...81,571,759
Ensembl chr 6:75,832,530...75,836,802
|
|
G
|
Sstr2
|
somatostatin receptor 2
|
|
IEP
|
|
RGD |
PMID:7956902 |
RGD:2325008 |
NCBI chr10:99,163,353...99,170,519
Ensembl chr10:98,664,216...98,674,351
|
|
G
|
Sstr3
|
somatostatin receptor 3
|
|
IEP
|
|
RGD |
PMID:7956902 |
RGD:2325008 |
NCBI chr 7:111,973,049...111,980,250
Ensembl chr 7:110,092,575...110,099,769
|
|
G
|
Sstr5
|
somatostatin receptor 5
|
|
IEP
|
|
RGD |
PMID:7956902 |
RGD:2325008 |
NCBI chr10:15,010,209...15,017,469
Ensembl chr10:14,506,868...14,512,946
|
|
G
|
Star
|
steroidogenic acute regulatory protein
|
|
IEP
|
mRNA:decreased expression:sciatic nerve (rat)
|
RGD |
PMID:20826654 |
RGD:4145530 |
NCBI chr16:72,969,824...72,974,447
Ensembl chr16:66,264,807...66,271,672
|
|
G
|
Stat1
|
signal transducer and activator of transcription 1
|
|
IDA
|
protein:increased tyrosine phosphorylation:glomerulus
|
RGD |
PMID:14678947 |
RGD:1600105 |
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540
|
|
G
|
Stat3
|
signal transducer and activator of transcription 3
|
|
IEP ISO
|
protein:increased tyrosine phosphorylation:aorta endothelium
|
RGD |
PMID:18230613 PMID:22660795 |
RGD:2291921, RGD:8694292 |
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
|
|
G
|
Stat4
|
signal transducer and activator of transcription 4
|
|
ISO
|
|
RGD |
PMID:10553062 |
RGD:7207889 |
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
|
|
G
|
Stat5b
|
signal transducer and activator of transcription 5B
|
|
IMP
|
|
RGD |
PMID:17003334 |
RGD:2291940 |
NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668
|
|
G
|
Stra6
|
signaling receptor and transporter of retinol STRA6
|
|
IEP
|
protein:decreased expression:optic cup (rat)
|
RGD |
PMID:28734946 |
RGD:155631297 |
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
|
|
G
|
Sts
|
steroid sulfatase
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:24497646 |
|
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
|
|
G
|
Tert
|
telomerase reverse transcriptase
|
|
IEP
|
|
RGD |
PMID:20031167 |
RGD:2316310 |
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
|
|
G
|
Tf
|
transferrin
|
|
IEP
|
|
RGD |
PMID:17081048 |
RGD:1601532 |
NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511
|
|
G
|
Tgfb1
|
transforming growth factor, beta 1
|
|
IEP ISO
|
protein:increased expression:urine CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:17177138 PMID:23090186 PMID:15855808 |
RGD:1601583 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
|
|
G
|
Tgfb2
|
transforming growth factor, beta 2
|
|
IEP
|
protein:increased expression:parotid gland
|
RGD |
PMID:17574405 |
RGD:2302087 |
NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
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|
G
|
Th
|
tyrosine hydroxylase
|
|
IEP
|
protein:increased expression:seminal vesicle
|
RGD |
PMID:17151307 |
RGD:1601629 |
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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|
G
|
Thbs1
|
thrombospondin 1
|
|
IMP
|
|
RGD |
PMID:17640965 |
RGD:2317942 |
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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|
G
|
Timm44
|
translocase of inner mitochondrial membrane 44
|
|
IEP
|
protein:decreased expression:retina
|
RGD |
PMID:23255365 |
RGD:13463486 |
NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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|
G
|
Timp1
|
TIMP metallopeptidase inhibitor 1
|
|
IEP ISO
|
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:21963884 PMID:17569353 PMID:17192464 |
RGD:2290354, RGD:2312467 |
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
|
|
G
|
Timp2
|
TIMP metallopeptidase inhibitor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21963884 |
|
NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611
|
|
G
|
Timp3
|
TIMP metallopeptidase inhibitor 3
|
|
ISO
|
mRNA:increased expression:glomerulus
|
RGD |
PMID:8840279 |
RGD:2312482 |
NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839
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|
G
|
Tjp1
|
tight junction protein 1
|
|
IEP
|
protein:decreased expression:glomerulus
|
RGD |
PMID:16567508 |
RGD:2325150 |
NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:118,849,838...119,094,432
|
|
G
|
Tlr2
|
toll-like receptor 2
|
|
IEP ISO
|
mRNA:increased expression:gingiva
|
RGD |
PMID:16740310 PMID:24878329 PMID:17707128 |
RGD:2312491, RGD:597538517, RGD:2312684 |
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
|
|
G
|
Tlr4
|
toll-like receptor 4
|
|
IEP
|
mRNA:increased expression:gingiva
|
RGD |
PMID:16740310 PMID:24878329 |
RGD:2312491, RGD:597538517 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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|
G
|
Tnc
|
tenascin C
|
|
IEP
|
|
RGD |
PMID:17999372 |
RGD:4889609 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
|
|
G
|
Tnf
|
tumor necrosis factor
|
treatment
|
IEP ISO
|
protein:increased expression:heart CTD Direct Evidence: marker/mechanism protein:increased expression:liver
|
CTD RGD |
PMID:12123627 PMID:12193562 PMID:19478208 PMID:20388520 PMID:22138235 PMID:24513509 PMID:20555424 PMID:19220660 PMID:24374093 PMID:21481476 More...
|
RGD:4142788, RGD:2312478, RGD:10450575, RGD:5131250 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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|
G
|
Tnfrsf1a
|
TNF receptor superfamily member 1A
|
|
IEP ISO
|
protein:increased expression:liver (rat) CTD Direct Evidence: therapeutic
|
CTD RGD |
PMID:12193562 PMID:21481476 |
RGD:5131250 |
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
|
|
G
|
Tnfrsf1b
|
TNF receptor superfamily member 1B
|
|
ISO
|
human protein in rat model
|
RGD |
PMID:21481476 |
RGD:5131250 |
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
|
|
G
|
Tnfsf10
|
TNF superfamily member 10
|
|
ISO IEP
|
|
RGD |
PMID:12577054 PMID:19572802 PMID:18649770 |
RGD:2312744, RGD:2312737, RGD:2312738 |
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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|
G
|
Tomm40
|
translocase of outer mitochondrial membrane 40
|
|
IEP
|
protein:decreased expression:retina
|
RGD |
PMID:23255365 |
RGD:13463486 |
NCBI chr 1:79,358,781...79,370,882
Ensembl chr 1:79,358,786...79,370,915
|
|
G
|
Tomm70
|
translocase of outer mitochondrial membrane 70
|
|
IEP
|
protein:decreased expression:retina
|
RGD |
PMID:23255365 |
RGD:13463486 |
NCBI chr11:43,378,719...43,417,166
Ensembl chr11:43,377,216...43,417,202
|
|
G
|
Tp53
|
tumor protein p53
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:21078376 PMID:23792339 PMID:24828139 |
RGD:8662307 |
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
|
|
G
|
Tp63
|
tumor protein p63
|
|
IEP
|
protein:increased expression:prostate gland
|
RGD |
PMID:20041964 |
RGD:11568648 |
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398
|
|
G
|
Tpi1
|
triosephosphate isomerase 1
|
|
IEP
|
protein:decreased expression:retina
|
RGD |
PMID:17465459 |
RGD:5147874 |
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541
|
|
G
|
Trex2
|
three prime repair exonuclease 2
|
|
IEP
|
|
RGD |
PMID:20973890 |
RGD:5490977 |
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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|
G
|
Trpc1
|
transient receptor potential cation channel, subfamily C, member 1
|
|
IEP
|
mRNA:decreased expression:kidney, liver
|
RGD |
PMID:18184923 |
RGD:2301838 |
NCBI chr 8:96,263,322...96,314,220
Ensembl chr 8:96,263,329...96,314,276
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|
G
|
Tsc2
|
TSC complex subunit 2
|
|
IEP
|
protein:increased threonine phosphorylation:cortex of kidney
|
RGD |
PMID:18599524 |
RGD:8657153 |
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
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|
G
|
Twnk
|
twinkle mtDNA helicase
|
|
IEP ISO
|
mRNA,protein:decreased expression:retina,mitochondrion:
|
RGD |
PMID:22743328 PMID:22229649 |
RGD:8694093, RGD:8694187 |
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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|
G
|
Txn1
|
thioredoxin 1
|
|
IEP
|
mRNA:altered expression:myocardium (rat)
|
RGD |
PMID:20571744 |
RGD:5133714 |
NCBI chr 5:77,507,455...77,519,685
Ensembl chr 5:72,711,933...72,724,629
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|
G
|
Txn2
|
thioredoxin 2
|
|
IEP
|
mRNA:increased expression:glomerulus mRNA:altered expression:myocardium (rat)
|
RGD |
PMID:15039483 PMID:20571744 |
RGD:2306161, RGD:5133714 |
NCBI chr 7:109,496,772...109,510,378
Ensembl chr 7:109,496,761...109,510,359
|
|
G
|
Txnip
|
thioredoxin interacting protein
|
|
IEP
|
protein:increased expression:kidney
|
RGD |
PMID:17675577 |
RGD:1642749 |
NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886
|
|
G
|
Txnrd1
|
thioredoxin reductase 1
|
|
IEP
|
mRNA:altered expression:myocardium (rat)
|
RGD |
PMID:20571744 |
RGD:5133714 |
NCBI chr 7:22,717,620...22,802,553
Ensembl chr 7:20,830,045...20,907,863
|
|
G
|
Txnrd2
|
thioredoxin reductase 2
|
|
IEP
|
mRNA:altered expression:myocardium (rat)
|
RGD |
PMID:20571744 |
RGD:5133714 |
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
|
|
G
|
Uba52
|
ubiquitin A-52 residue ribosomal protein fusion product 1
|
|
ISO
|
mRNA:increased expression:kidney (mouse)
|
RGD |
PMID:12171997 |
RGD:11352735 |
NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807
|
|
G
|
Uchl5
|
ubiquitin C-terminal hydrolase L5
|
|
IEP
|
|
RGD |
PMID:23500140 |
RGD:9588239 |
NCBI chr13:55,520,722...55,556,503
Ensembl chr13:55,520,729...55,556,502
|
|
G
|
Uck2
|
uridine-cytidine kinase 2
|
|
IEP
|
protein:decreased activity:heart, skeletal muscle
|
RGD |
PMID:221781 |
RGD:2317214 |
NCBI chr13:79,380,807...79,438,121
Ensembl chr13:79,383,846...79,438,352
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|
G
|
Ucp2
|
uncoupling protein 2
|
|
IEP ISO
|
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:14563825 PMID:16123366 PMID:19227473 |
RGD:2313501 |
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611
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|
G
|
Ucp3
|
uncoupling protein 3
|
susceptibility
|
IEP ISO
|
mRNA:increased expression:skeletal muscle
|
RGD |
PMID:10868941 PMID:12079841 |
RGD:2313524, RGD:2313520 |
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
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|
G
|
Ugt2b1
|
UDP glucuronosyltransferase 2 family, polypeptide B1
|
|
IEP
|
mRNA:increased expression:liver
|
RGD |
PMID:20487213 |
RGD:11541075 |
NCBI chr14:21,024,035...21,035,784
Ensembl chr14:21,024,006...21,035,986
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|
G
|
Umod
|
uromodulin
|
|
IEP
|
protein:increased expression:urine
|
RGD |
PMID:10925066 |
RGD:2324705 |
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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|
G
|
Umps
|
uridine monophosphate synthetase
|
|
IEP
|
protein:decreased activity:liver (rat) protein:decreased activity:mammary gland (rat)
|
RGD |
PMID:3907307 PMID:1476792 |
RGD:5132278, RGD:5132591 |
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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|
G
|
Uprt
|
uracil phosphoribosyltransferase homolog
|
|
IEP
|
protein:decreased activity:mammary gland (rat)
|
RGD |
PMID:1476792 |
RGD:5132591 |
NCBI chr X:69,516,573...69,546,811
Ensembl chr X:69,516,738...69,546,797
|
|
G
|
Uts2r
|
urotensin 2 receptor
|
|
IMP
|
|
RGD |
PMID:16267137 |
RGD:2306839 |
NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
|
|
G
|
Vcam1
|
vascular cell adhesion molecule 1
|
|
IEP ISO
|
mRNA, protein:increased expression:kidney mRNA:increased expression:aorta
|
RGD |
PMID:18983856 PMID:18093596 |
RGD:2312764, RGD:2306988 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
|
|
G
|
Vdac1
|
voltage-dependent anion channel 1
|
|
IEP
|
protein:increased expression:kidney
|
RGD |
PMID:19634143 |
RGD:10003054 |
NCBI chr10:37,029,377...37,060,542
Ensembl chr10:36,532,244...36,559,640
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|
G
|
Vegfa
|
vascular endothelial growth factor A
|
|
IEP ISO IDA
|
mRNA:decreased expression:heart CTD Direct Evidence: marker/mechanism mRNA:decreased expression:skeletal muscle
|
CTD RGD |
PMID:22191573 PMID:16741021 PMID:19934008 PMID:16816123 |
RGD:2313724, RGD:7421582, RGD:2313725 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
|
|
G
|
Vegfb
|
vascular endothelial growth factor B
|
|
ISO
|
mRNA:decreased expression:skeletal muscle
|
RGD |
PMID:16816123 |
RGD:2313725 |
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
|
|
G
|
Vip
|
vasoactive intestinal peptide
|
|
ISO
|
|
RGD |
PMID:21129425 |
RGD:5685622 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
|
|
G
|
Vipr1
|
vasoactive intestinal peptide receptor 1
|
|
ISO
|
|
RGD |
PMID:21129425 |
RGD:5685622 |
NCBI chr 8:130,181,219...130,217,098
Ensembl chr 8:121,310,248...121,339,585
|
|
G
|
Vldlr
|
very low density lipoprotein receptor
|
|
IEP
|
protein:decreased expression:heart, skeletal muscle
|
RGD |
PMID:15878964 |
RGD:1625575 |
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
|
|
G
|
Vwf
|
von Willebrand factor
|
|
IEP
|
protein:increased expression:plasma
|
RGD |
PMID:17546272 |
RGD:1625712 |
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
|
|
G
|
Wdr35
|
WD repeat domain 35
|
|
IEP
|
mRNA:increased expression:kidney (rat)
|
RGD |
PMID:20224876 |
RGD:11553923 |
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
|
|
G
|
Xdh
|
xanthine dehydrogenase
|
|
IEP
|
protein:increased expression:brain, heart, kidney
|
RGD |
PMID:14532905 |
RGD:1304441 |
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
|
|
G
|
Ywhah
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:18342293 |
|
NCBI chr14:77,696,332...77,705,715
Ensembl chr14:77,696,333...77,705,741
|
|
|
G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
ISO
|
ClinVar Annotator: match by term: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
|
OMIM ClinVar |
PMID:10227563 PMID:12627330 PMID:15123688 PMID:15826954 PMID:17563455 PMID:18268044 PMID:18356407 PMID:20164212 PMID:21105491 PMID:21683639 PMID:22802087 PMID:23227446 PMID:23247789 PMID:23348805 PMID:23485969 PMID:23771925 PMID:24097065 PMID:24285859 PMID:25741868 PMID:25819479 PMID:25905084 PMID:26059258 PMID:26467025 PMID:27245055 PMID:27884173 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28844315 PMID:29355436 PMID:30005691 PMID:30191603 PMID:30977832 PMID:31264968 PMID:31529154 PMID:31529156 PMID:31595705 PMID:31875549 PMID:32418360 PMID:32583173 PMID:33846082 PMID:34373539 PMID:35052457 PMID:35118593 PMID:35256061 PMID:36208030 PMID:36257325 More...
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|
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
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|
G
|
Scnn1b
|
sodium channel epithelial 1 subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
|
ClinVar |
PMID:25741868 |
|
NCBI chr 1:185,861,326...185,915,717
Ensembl chr 1:176,430,103...176,484,451
|
|
|
G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
ISO IEP
|
DNA:mutations: :
|
RGD |
PMID:17407387 PMID:19435144 |
RGD:12904698, RGD:12904767 |
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
|
ISO
|
protein:increased expression:serum:
|
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Igfbp3
|
insulin-like growth factor binding protein 3
|
|
ISO
|
protein:increased expression:serum:
|
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
|
|
G
|
Lipc
|
lipase C, hepatic type
|
|
IEP
|
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
|
RGD |
PMID:10600655 |
RGD:2308786 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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|
|
G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
treatment
|
ISO IEP
|
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:15126557 PMID:19626510 PMID:23608331 |
RGD:2313236, RGD:8695950 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
|
|
G
|
Ahsg
|
alpha-2-HS-glycoprotein
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:12153747 |
RGD:2313814 |
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
|
|
G
|
Angptl6
|
angiopoietin-like 6
|
|
ISO
|
protein:increased expression:blood serum,umbilical artery (human)
|
RGD |
PMID:35876300 |
RGD:329845845 |
NCBI chr 8:19,413,617...19,419,925
Ensembl chr 8:19,413,619...19,419,925
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|
G
|
Apod
|
apolipoprotein D
|
|
ISO
|
|
RGD |
PMID:6828336 |
RGD:2311180 |
NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
|
|
G
|
Ar
|
androgen receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20421132 |
|
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
|
|
G
|
Atp2b1
|
ATPase plasma membrane Ca2+ transporting 1
|
|
ISO
|
mRNA:decreased expression:placenta (human)
|
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 7:35,622,267...35,731,904
Ensembl chr 7:33,735,871...33,843,295
|
|
G
|
Atp2b2
|
ATPase plasma membrane Ca2+ transporting 2
|
|
ISO
|
mRNA:decreased expression:placenta (human)
|
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:146,896,332...147,140,665
|
|
G
|
Atp2b3
|
ATPase plasma membrane Ca2+ transporting 3
|
|
ISO
|
mRNA:decreased expression:placenta (human)
|
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr X:156,367,582...156,464,085
Ensembl chr X:151,216,507...151,286,775
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G
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Atp2b4
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ATPase plasma membrane Ca2+ transporting 4
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr13:47,708,157...47,807,389
Ensembl chr13:45,156,146...45,255,246
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G
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Bnip3l
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BCL2 interacting protein 3 like
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IEP
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RGD |
PMID:26512955 |
RGD:11564338 |
NCBI chr15:45,350,081...45,373,213
Ensembl chr15:41,174,594...41,197,803
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G
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C12h12orf43
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similar to human chromosome 12 open reading frame 43
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ISO
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ClinVar Annotator: match by term: Gestational diabetes
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ClinVar |
PMID:9562352 PMID:25741868 PMID:35299962 |
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NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
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G
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Calb1
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calbindin 1
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 5:29,375,624...29,402,532
Ensembl chr 5:29,375,642...29,402,431
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G
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Ccl2
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C-C motif chemokine ligand 2
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ISO
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RGD |
PMID:18702087 |
RGD:2306986 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G
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Ccn2
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cellular communication network factor 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:34175429 |
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NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
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G
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Cdkal1
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CDK5 regulatory subunit associated protein 1-like 1
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ISO
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DNA:snp: :rs7756992,rs7754840(human)
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RGD |
PMID:19002430 |
RGD:2313946 |
NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524
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G
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Cyp19a1
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cytochrome P450, family 19, subfamily a, polypeptide 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20421132 |
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NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758
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G
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Cyp24a1
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cytochrome P450, family 24, subfamily a, polypeptide 1
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ISO
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mRNA:increased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
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G
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Cyp27b1
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cytochrome P450, family 27, subfamily b, polypeptide 1
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ISO
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mRNA:increased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241
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G
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Cyp2r1
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cytochrome P450, family 2, subfamily r, polypeptide 1
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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G
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Dcn
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decorin
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ISO
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RGD |
PMID:16630654 |
RGD:2311413 |
NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270
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G
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Dnah8
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dynein, axonemal, heavy chain 8
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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G
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Fgf2
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fibroblast growth factor 2
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20421132 |
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NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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G
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Foxm1
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forkhead box M1
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ISO
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RGD |
PMID:19833884 |
RGD:2315927 |
NCBI chr 4:163,325,628...163,338,100
Ensembl chr 4:161,638,816...161,650,684
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G
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G6pc1
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glucose-6-phosphatase catalytic subunit 1
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ISO
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protein:increased activity:liver
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RGD |
PMID:12595588 |
RGD:2315965 |
NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,257,668...86,333,804
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G
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Gad2
|
glutamate decarboxylase 2
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|
ISO
|
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RGD |
PMID:18588707 |
RGD:2313295 |
NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
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G
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Gck
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glucokinase
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ISO
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DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008) (human) ClinVar Annotator: match by term: Gestational diabetes DNA:point mutation:exon:S131P
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ClinVar RGD |
PMID:3573714 PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 PMID:10754480 PMID:11508276 PMID:12442280 PMID:14517946 PMID:14517956 PMID:15102714 PMID:15305805 PMID:15928245 PMID:16173921 PMID:16731834 PMID:17186219 PMID:17389332 PMID:17937063 PMID:18056790 PMID:18414213 PMID:19790256 PMID:20337973 PMID:21395678 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22065275 PMID:22493702 PMID:22820548 PMID:23771172 PMID:24033266 PMID:24568320 PMID:24578721 PMID:24735133 PMID:25082184 PMID:25306193 PMID:25494859 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29056535 PMID:29510678 PMID:29777474 PMID:30191644 PMID:31216263 PMID:31595705 PMID:31968686 PMID:32074423 PMID:32086287 PMID:34406393 PMID:34496959 PMID:35737141 PMID:36208343 PMID:36257325 PMID:36504295 PMID:16752173 PMID:8495817 More...
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RGD:2301873, RGD:1601293 |
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
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G
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Ggt1
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gamma-glutamyltransferase 1
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ISO
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protein:increased activity:blood
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RGD |
PMID:18937705 |
RGD:2315598 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
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G
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Gh1
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growth hormone 1
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ISO
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protein:increased expression:
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RGD |
PMID:3519044 |
RGD:2315681 |
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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G
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Gpx1
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glutathione peroxidase 1
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IDA
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RGD |
PMID:22342560 |
RGD:11353780 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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G
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Hnf1a
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HNF1 homeobox A
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ISO
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DNA:SNP:CDS:slightly increased frequency of the L allele of the I27L polymorphism (p=0.048) (human) ClinVar Annotator: match by term: Gestational diabetes
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ClinVar RGD |
PMID:9562352 PMID:25741868 PMID:35299962 PMID:16752173 |
RGD:2301873 |
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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G
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Icam1
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intercellular adhesion molecule 1
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ISO
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protein:decreased expression:placenta protein:increased expression:decidua, endothelial cell
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RGD |
PMID:19343356 PMID:17990298 |
RGD:2313469, RGD:2313476 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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G
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Igf1r
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insulin-like growth factor 1 receptor
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IEP
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RGD |
PMID:22241286 |
RGD:10046048 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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G
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Il10
|
interleukin 10
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|
ISO
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protein:decreased expression:serum
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RGD |
PMID:18446686 |
RGD:2308947 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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G
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Il6
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interleukin 6
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ISO
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protein:increased expression:extracellular space (human)
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RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G
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Inhba
|
inhibin subunit beta A
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ISO
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protein:increased expression:serum protein:decreased expression:serum
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RGD |
PMID:7852520 PMID:14663836 |
RGD:2313385, RGD:2313391 |
NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982
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G
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Ins2
|
insulin 2
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ISO
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protein:increased expression:serum
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RGD |
PMID:19269197 |
RGD:2311131 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Insr
|
insulin receptor
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ISO IEP
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mRNA, protein:increased expression:placenta (human)
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RGD |
PMID:19179458 PMID:22241286 |
RGD:2307336, RGD:10046048 |
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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G
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Itpr1
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inositol 1,4,5-trisphosphate receptor, type 1
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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G
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Itpr2
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inositol 1,4,5-trisphosphate receptor, type 2
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
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G
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Itpr3
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inositol 1,4,5-trisphosphate receptor, type 3
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
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G
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Lep
|
leptin
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|
ISO
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protein:increased expression:serum CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:20421132 PMID:19269197 |
RGD:2311131 |
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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G
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Lepr
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leptin receptor
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|
ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20421132 |
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NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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G
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Mbl2
|
mannose binding lectin 2
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|
ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:15472209 |
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NCBI chr 1:237,429,873...237,465,567
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G
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Men1
|
menin 1
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ISO
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RGD |
PMID:17975067 |
RGD:2317319 |
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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G
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Met
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MET proto-oncogene, receptor tyrosine kinase
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ISS
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MouseDO |
|
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NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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G
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Mir133a1
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microRNA 133a-1
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IEP
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RGD |
PMID:26512955 |
RGD:11564338 |
NCBI chr18:1,885,082...1,885,168
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G
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Ogg1
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8-oxoguanine DNA glycosylase
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|
ISO
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mRNA:increased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G
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Plat
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plasminogen activator, tissue type
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ISO
|
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RGD |
PMID:17259140 |
RGD:2311668 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
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G
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Rbp4
|
retinol binding protein 4
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|
ISO
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protein:increased expression:blood serum (human)
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RGD |
PMID:35876300 |
RGD:329845845 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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G
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Retn
|
resistin
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ISO
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protein:increased expression:serum
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RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620
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G
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Ryr1
|
ryanodine receptor 1
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|
ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G
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Ryr2
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ryanodine receptor 2
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G
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Ryr3
|
ryanodine receptor 3
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|
ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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G
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S100g
|
S100 calcium binding protein G
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr X:31,705,853...31,708,422
Ensembl chr X:31,705,866...31,708,433
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G
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Sirt3
|
sirtuin 3
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|
ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23956348 |
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NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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G
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Sod2
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superoxide dismutase 2
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23956348 PMID:30738174 PMID:34175429 |
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NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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G
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Srrm1
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serine and arginine repetitive matrix 1
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ISO
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protein:increased glycation:placenta (human)
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RGD |
PMID:24308201 |
RGD:11038724 |
NCBI chr 5:147,559,515...147,591,895
Ensembl chr 5:147,559,514...147,591,849
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G
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Tcf7l2
|
transcription factor 7 like 2
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susceptibility
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ISO
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DNA:SNP (human)
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RGD |
PMID:18984664 |
RGD:2312455 |
NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967
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G
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Trpv5
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transient receptor potential cation channel, subfamily V, member 5
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ISO
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mRNA:decreased expression:placenta (human)
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RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 4:70,536,432...70,562,743
Ensembl chr 4:70,536,440...70,562,745
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G
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Trpv6
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transient receptor potential cation channel, subfamily V, member 6
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|
ISO
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mRNA:decreased expression:placenta (human)
|
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 4:70,507,347...70,523,013
Ensembl chr 4:70,507,348...70,523,017
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G
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Uts2
|
urotensin 2
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susceptibility
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ISO
|
DNA:polymorphism
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RGD |
PMID:17327028 |
RGD:2306802 |
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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G
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Vdr
|
vitamin D receptor
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|
ISO
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mRNA:decreased expression:placenta (human)
|
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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G
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Ins1
|
insulin 1
|
|
ISO
|
ClinVar Annotator: match by term: Hyperproinsulinemia
|
ClinVar |
PMID:381941 PMID:1601997 PMID:2196279 PMID:2991050 PMID:3057496 PMID:3306677 PMID:3470784 PMID:3511099 PMID:3537011 PMID:4019786 PMID:6261753 PMID:6312455 PMID:6339950 PMID:6368587 PMID:6371526 PMID:6382002 PMID:7242673 PMID:7350438 PMID:8269791 PMID:8421693 PMID:8636380 PMID:9141561 PMID:9667398 PMID:11921414 PMID:18171712 PMID:20007936 PMID:20034470 PMID:20226046 PMID:20938745 PMID:24097065 PMID:24770419 PMID:24843467 PMID:25542748 PMID:25741868 PMID:26101329 PMID:28492532 PMID:29758564 PMID:33953728 More...
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NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
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Ins2
|
insulin 2
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|
ISO
|
ClinVar Annotator: match by term: Hyperproinsulinemia CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:381941 PMID:1601997 PMID:2196279 PMID:2991050 PMID:3057496 PMID:3306677 PMID:3470784 PMID:3511099 PMID:3537011 PMID:4019786 PMID:6261753 PMID:6312455 PMID:6339950 PMID:6368587 PMID:6371526 PMID:6382002 PMID:7242673 PMID:7350438 PMID:8269791 PMID:8421693 PMID:8636380 PMID:9141561 PMID:9667398 PMID:11921414 PMID:18171712 PMID:20007936 PMID:20034470 PMID:20133622 PMID:20226046 PMID:20938745 PMID:21592955 PMID:24097065 PMID:24411943 PMID:24770419 PMID:24843467 PMID:25542748 PMID:25741868 PMID:25755231 PMID:26101329 PMID:28492532 PMID:29758564 PMID:32656923 PMID:33409956 PMID:33953728 More...
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|
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
|
Th
|
tyrosine hydroxylase
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|
ISO
|
ClinVar Annotator: match by term: Hyperproinsulinemia
|
ClinVar |
PMID:25741868 PMID:33953728 |
|
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G
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Akap4
|
A-kinase anchoring protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:18,107,256...18,117,549
Ensembl chr X:15,435,410...15,445,684
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G
|
Araf
|
A-Raf proto-oncogene, serine/threonine kinase
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:3,780,932...3,845,919
Ensembl chr X:1,227,392...1,239,073
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G
|
Bmp15
|
bone morphogenetic protein 15
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:18,840,943...18,846,006
Ensembl chr X:16,169,123...16,174,187
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G
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Cacna1f
|
calcium voltage-gated channel subunit alpha1 F
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,539,992...17,568,308
Ensembl chr X:14,868,024...14,896,413
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G
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Ccdc120
|
coiled-coil domain containing 120
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ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:17,437,219...17,443,716
Ensembl chr X:14,753,696...14,772,743
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G
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Ccdc22
|
coiled-coil domain containing 22
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 |
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NCBI chr X:17,570,184...17,582,130
Ensembl chr X:14,898,296...14,910,244
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G
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Ccnb3
|
cyclin B3
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ISO
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ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:18,149,915...18,214,801
Ensembl chr X:15,478,065...15,542,885
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G
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Cdk16
|
cyclin-dependent kinase 16
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ISO
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ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:4,046,330...4,057,825
Ensembl chr X:1,492,814...1,504,148
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G
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Cfp
|
complement factor properdin
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ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:3,715,551...3,721,113
Ensembl chr X:1,161,979...1,167,573
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G
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Clcn5
|
chloride voltage-gated channel 5
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ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:17,857,260...18,011,844
Ensembl chr X:15,185,451...15,334,264
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G
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Dgkk
|
diacylglycerol kinase kappa
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ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:18,253,849...18,385,805
Ensembl chr X:15,583,572...15,712,987
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G
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Dock8
|
dedicator of cytokinesis 8
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ISO
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DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human)
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RGD |
PMID:29058101 |
RGD:40886273 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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G
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Ebp
|
EBP, cholestenol delta-isomerase
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:16,971,372...16,977,782
Ensembl chr X:14,299,448...14,305,826
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G
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Elk1
|
ETS transcription factor ELK1
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:3,692,367...3,709,252
Ensembl chr X:1,139,756...1,155,713
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G
|
Eras
|
ES cell expressed Ras
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chr X:17,245,915...17,250,301
Ensembl chr X:14,573,987...14,578,374
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G
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Foxp3
|
forkhead box P3
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|
ISO ISS
|
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome OMIM:304790 CTD Direct Evidence: marker/mechanism
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ClinVar MouseDO CTD OMIM RGD |
PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 PMID:11295725 PMID:11768393 PMID:12161590 PMID:14671208 PMID:15096376 PMID:16199547 PMID:16630773 PMID:16741580 PMID:16920951 PMID:16990602 PMID:17576681 PMID:17586580 PMID:17635943 PMID:18414213 PMID:18795917 PMID:18820676 PMID:18931102 PMID:18951619 PMID:19189134 PMID:19471859 PMID:19633572 PMID:20537998 PMID:20650610 PMID:21036387 PMID:22000569 PMID:22581967 PMID:22590469 PMID:23313429 PMID:23534934 PMID:24033266 PMID:24250806 PMID:24258212 PMID:24792626 PMID:24916357 PMID:24982679 PMID:25326164 PMID:25363768 PMID:25546394 PMID:25741868 PMID:25911531 PMID:26467025 PMID:26661331 PMID:26748374 PMID:26748735 PMID:27167055 PMID:27484032 PMID:27783946 PMID:28289675 PMID:28492532 PMID:28778586 PMID:28783662 PMID:28833278 PMID:28993341 PMID:29193502 PMID:29241729 PMID:29312905 PMID:29896738 PMID:29907148 PMID:30191644 PMID:30293990 PMID:30385752 PMID:30443250 PMID:30510991 PMID:30755392 PMID:30805323 PMID:30894704 PMID:31027649 PMID:31130284 PMID:31990476 PMID:32279225 PMID:32531870 PMID:32963853 PMID:33046911 PMID:33194927 PMID:33523441 PMID:33637067 PMID:33751536 PMID:33833438 PMID:34216291 PMID:36007526 PMID:36152823 PMID:36600150 PMID:37485029 PMID:11137992 More...
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RGD:1598959 |
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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G
|
Ftsj1
|
FtsJ RNA 2'-O-methyltransferase 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:16,915,087...16,929,426
Ensembl chr X:14,244,050...14,252,030
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|
G
|
Gata1
|
GATA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,193,291...17,209,462
Ensembl chr X:14,529,702...14,537,530
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|
G
|
Glod5
|
glyoxalase domain containing 5
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,145,936...17,160,733
Ensembl chr X:14,473,994...14,488,683
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|
G
|
Gpkow
|
G patch domain and KOW motifs
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,463,521...17,478,298
Ensembl chr X:14,791,610...14,806,384
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|
G
|
Gripap1
|
GRIP1 associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,350,817...17,380,626
Ensembl chr X:14,678,898...14,708,679
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|
G
|
Hdac6
|
histone deacetylase 6
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,222,538...17,244,373
Ensembl chr X:14,551,044...14,572,441
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|
G
|
Jade3
|
jade family PHD finger 3
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,668,873...1,848,781
Ensembl chr X:1,669,930...1,845,138
|
|
G
|
Kcnd1
|
potassium voltage-gated channel subfamily D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,333,612...17,349,255
Ensembl chr X:14,662,357...14,677,233
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|
G
|
Magix
|
MAGI family member, X-linked
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,496,092...17,504,370
Ensembl chr X:14,824,188...14,831,045
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|
G
|
Mir500
|
microRNA 500
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
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ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,930,647...17,930,726
Ensembl chr X:15,258,768...15,258,859
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|
G
|
Mir532
|
microRNA 532
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,919,185...17,919,263
Ensembl chr X:15,247,315...15,247,393
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|
G
|
Ndufb11
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NADH:ubiquinone oxidoreductase subunit B11
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:4,126,317...4,128,575
Ensembl chr X:1,572,785...1,575,062
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|
G
|
Otud5
|
OTU deubiquitinase 5
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,296,750...17,331,257
Ensembl chr X:14,626,164...14,659,573
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|
G
|
Pcsk1n
|
proprotein convertase subtilisin/kexin type 1 inhibitor
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,251,963...17,255,405
Ensembl chr X:14,580,038...14,583,566
|
|
G
|
Pim2
|
Pim-2 proto-oncogene, serine/threonine kinase
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,289,509...17,294,778
Ensembl chr X:14,617,582...14,622,851
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|
G
|
Plp2
|
proteolipid protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,506,153...17,509,552
Ensembl chr X:14,834,231...14,838,514
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|
G
|
Porcn
|
porcupine O-acyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:16,957,811...16,970,440
Ensembl chr X:14,285,871...14,298,481
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|
G
|
Ppp1r3f
|
protein phosphatase 1, regulatory subunit 3F
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,581,467...17,617,087
Ensembl chr X:14,929,323...14,945,193
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|
G
|
Pqbp1
|
polyglutamine binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,275,445...17,280,018
Ensembl chr X:14,603,539...14,608,087
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|
G
|
Praf2
|
PRA1 domain family, member 2
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,445,313...17,447,950
Ensembl chr X:14,773,420...14,775,909
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G
|
Prickle3
|
prickle planar cell polarity protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,509,551...17,520,157
Ensembl chr X:14,837,650...14,848,218
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|
G
|
Rbm10
|
RNA binding motif protein 10
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:4,093,914...4,126,060
Ensembl chr X:1,540,398...1,572,575
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G
|
Rbm3
|
RNA binding motif protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,020,863...17,024,341
Ensembl chr X:14,348,910...14,353,580
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|
G
|
Rgn
|
regucalcin
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
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|
G
|
Rp2
|
RP2 activator of ARL3 GTPase
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688
|
|
G
|
Shroom4
|
shroom family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:18,537,371...18,748,665
Ensembl chr X:15,869,065...16,076,869
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|
G
|
Slc35a2
|
solute carrier family 35 member A2
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,280,072...17,288,928
Ensembl chr X:14,608,055...14,616,678
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|
G
|
Slc38a5
|
solute carrier family 38, member 5
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:16,885,701...16,894,470
Ensembl chr X:14,213,729...14,222,498
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|
G
|
Slc9a7
|
solute carrier family 9 member A7
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
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|
G
|
Spaca5
|
sperm acrosome associated 5
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:3,472,369...3,475,552
Ensembl chr X:918,817...922,049
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G
|
Ssx1
|
SSX family member 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:16,603,888...16,612,203
Ensembl chr X:13,931,470...13,939,720
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G
|
Suv39h1
|
SUV39H1 histone lysine methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,093,059...17,105,942
Ensembl chr X:14,421,109...14,433,982
|
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G
|
Suv39h1-ps1
|
SUV39H1 histone lysine methyltransferase, pseudogene 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:146,828,818...146,831,485
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|
G
|
Syn1
|
synapsin I
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:3,725,745...3,780,940
Ensembl chr X:1,172,208...1,227,396
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|
G
|
Syp
|
synaptophysin
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|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,521,348...17,536,449
Ensembl chr X:14,849,444...14,864,745
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G
|
Tbc1d25
|
TBC1 domain family, member 25
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:16,986,629...17,010,228
Ensembl chr X:14,314,414...14,338,275
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|
G
|
Tfe3
|
transcription factor binding to IGHM enhancer 3
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,401,466...17,414,829
Ensembl chr X:14,729,550...14,742,571
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|
G
|
Timm17b
|
translocase of inner mitochondrial membrane 17b
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,268,257...17,275,424
Ensembl chr X:14,594,577...14,603,416
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|
G
|
Timp1
|
TIMP metallopeptidase inhibitor 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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|
G
|
Uba1
|
ubiquitin-like modifier activating enzyme 1
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:4,062,216...4,084,192
Ensembl chr X:1,508,666...1,530,636
|
|
G
|
Usp11
|
ubiquitin specific peptidase 11
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:4,026,865...4,043,036
Ensembl chr X:1,473,350...1,489,520
|
|
G
|
Usp27x
|
ubiquitin specific peptidase 27, X-linked
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,795,506...17,798,741
Ensembl chr X:15,124,596...15,125,912
|
|
G
|
Uxt
|
ubiquitously-expressed, prefoldin-like chaperone
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:3,679,630...3,691,944
Ensembl chr X:1,126,162...1,138,663
|
|
G
|
Was
|
WASP actin nucleation promoting factor
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,077,057...17,085,802
Ensembl chr X:14,405,124...14,413,849
|
|
G
|
Wdr13
|
WD repeat domain 13
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,034,779...17,045,682
Ensembl chr X:14,362,860...14,373,727
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G
|
Wdr45
|
WD repeat domain 45
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:17,448,195...17,454,117
Ensembl chr X:14,776,293...14,782,202
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G
|
Zfp157
|
zinc finger protein 157
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr12:21,356,253...21,393,006
Ensembl chr12:16,248,230...16,270,698
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|
G
|
Zfp182
|
zinc finger protein 182
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:3,480,991...3,555,009
Ensembl chr X:899,439...1,000,954
|
|
G
|
Znf81
|
zinc finger protein 81
|
|
ISO
|
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chr X:3,581,501...3,679,905
Ensembl chr X:1,036,153...1,126,102
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|
|
G
|
Insr
|
insulin receptor
|
|
ISO
|
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544997 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:11463381 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:28765322 PMID:30663027 PMID:31989990 PMID:35000900 More...
|
|
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
|
|
G
|
Lmna
|
lamin A/C
|
|
ISO
|
ClinVar Annotator: match by term: IRAN, TYPE A
|
ClinVar |
PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28663758 PMID:33661429 More...
|
|
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
|
|
|
G
|
Ctla4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
ISO
|
DNA:SNP: :49A>G (human)
|
RGD |
PMID:12021137 |
RGD:2301997 |
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
|
|
G
|
LOC120095693
|
small ubiquitin-related modifier 2-like
|
|
ISO
|
ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
|
ClinVar |
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 |
|
NCBI chr11:79,163,457...79,164,088
Ensembl chr11:79,163,634...79,163,960
|
|
G
|
Tab2
|
TGF-beta activated kinase 1/MAP3K7 binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
|
ClinVar |
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 |
|
NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:2,375,490...2,424,756
|
|
|
G
|
Ccr2
|
C-C motif chemokine receptor 2
|
|
ISO
|
protein:increased expression:liver,serum:
|
RGD |
PMID:19277603 |
RGD:8657358 |
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
|
|
G
|
Insr
|
insulin receptor
|
|
ISO
|
|
RGD |
PMID:14722613 |
RGD:1302525 |
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
|
|
G
|
Lmna
|
lamin A/C
|
|
ISO
|
ClinVar Annotator: match by term: Familial partial lipodystrophy 2
|
ClinVar RGD |
PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 PMID:4740717 PMID:8619549 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12075506 PMID:12196663 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12716787 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15298354 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15678000 PMID:15744034 PMID:15770669 PMID:15843404 PMID:15965218 PMID:15998779 PMID:16046620 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16584978 PMID:16585054 PMID:16671095 PMID:16705075 PMID:16715312 PMID:16809772 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17556535 PMID:17576681 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18041775 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18808171 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19933576 PMID:20130076 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21400569 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22071332 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22431096 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22761994 PMID:22883396 PMID:22918509 PMID:23062543 PMID:23142632 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25025039 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25274841 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25371241 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26392352 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26498160 PMID:26573435 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26743238 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26900797 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27182706 PMID:27220833 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27845687 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28349240 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29078011 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29237675 PMID:29237690 PMID:29253866 PMID:29255176 PMID:29431110 PMID:29438482 PMID:29540472 PMID:29551499 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29709087 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29895224 PMID:29943882 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30055862 PMID:30122538 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30615648 PMID:30665423 PMID:30739589 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30919684 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31428229 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32456328 PMID:32461654 PMID:32475984 PMID:32508047 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32698523 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32880476 PMID:33038109 PMID:33258288 PMID:33304817 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33500567 PMID:33502018 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34135346 PMID:34240052 PMID:34292171 PMID:34340952 PMID:34363016 PMID:34495297 PMID:34680903 PMID:34720847 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35526016 PMID:35528128 PMID:35533453 PMID:35535697 PMID:35772917 PMID:35898701 PMID:36264615 PMID:36267857 PMID:36293084 PMID:36397776 PMID:36646731 PMID:36704457 PMID:36788754 PMID:36971006 PMID:37246508 PMID:37589201 PMID:37624850 PMID:37639473 PMID:37652022 PMID:37679847 PMID:37685926 PMID:37904629 PMID:38247853 PMID:38254962 PMID:38473809 PMID:38489124 PMID:38630155 PMID:38689299 PMID:38691546 PMID:38979608 PMID:39825153 PMID:12196663 More...
|
RGD:1580516 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
|
|
|
G
|
Foxc2
|
forkhead box C2
|
|
ISO
|
ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
|
ClinVar |
PMID:15523639 |
|
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
|
|
|
G
|
Rfx6
|
regulatory factor X, 6
|
|
ISO
|
ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
|
ClinVar |
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:26559129 PMID:27523286 PMID:28492532 PMID:29026101 More...
|
|
NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
|
|
|
G
|
Abcc8
|
ATP binding cassette subfamily C member 8
|
|
ISO
|
ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:2198959 PMID:8751851 PMID:8923011 PMID:9519757 PMID:9536098 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10194514 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10447255 PMID:10685979 PMID:10685980 PMID:10720932 PMID:11226335 PMID:11318841 PMID:11395395 PMID:11457841 PMID:11692183 PMID:11872696 PMID:11999683 PMID:12169627 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14764815 PMID:15111507 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16885549 PMID:17114887 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18346985 PMID:18414213 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18981553 PMID:19214942 PMID:19233137 PMID:19342262 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:20573158 PMID:20685672 PMID:20922570 PMID:21109997 PMID:21378087 PMID:21422196 PMID:21536946 PMID:21674179 PMID:21716120 PMID:21738553 PMID:21968111 PMID:21978130 PMID:21981106 PMID:21989597 PMID:22031516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22855730 PMID:22876564 PMID:23093687 PMID:23275527 PMID:23345197 PMID:23506826 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24401662 PMID:24622368 PMID:24686051 PMID:24937539 PMID:25008049 PMID:25201519 PMID:25323548 PMID:25741868 PMID:25765446 PMID:26092864 PMID:26180531 PMID:26208381 PMID:26221353 PMID:26431509 PMID:26448950 PMID:26467025 PMID:27065949 PMID:27188453 PMID:27271189 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27681997 PMID:27682711 PMID:27889714 PMID:27908292 PMID:28270372 PMID:28442472 PMID:28492532 PMID:29216354 PMID:29439679 PMID:29893194 PMID:30186238 PMID:30352420 PMID:30395892 PMID:30753133 PMID:30873120 PMID:31216263 PMID:31291970 PMID:31589614 PMID:31604004 PMID:31727138 PMID:31997554 PMID:32027066 PMID:32170320 PMID:32202736 PMID:32333556 PMID:32376986 PMID:32418263 PMID:32508047 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32935446 PMID:33013711 PMID:33046911 PMID:33185579 PMID:33187088 PMID:33300273 PMID:33410562 PMID:33502730 PMID:33565752 PMID:33606663 PMID:34253504 PMID:34462253 PMID:34741762 PMID:34764980 PMID:35029855 PMID:35333605 PMID:36208030 PMID:36239000 PMID:37007940 PMID:38095268 PMID:38513803 More...
|
|
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
|
|
G
|
Blk
|
BLK proto-oncogene, Src family tyrosine kinase
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:25741868 |
|
NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
|
|
G
|
C12h12orf43
|
similar to human chromosome 12 open reading frame 43
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:9392505 PMID:9626139 PMID:10333057 PMID:10588527 PMID:11942313 PMID:23348805 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28012402 PMID:28170077 PMID:28410371 PMID:28492532 PMID:31517624 PMID:32238361 PMID:32395877 PMID:33046911 PMID:35328643 PMID:35472491 PMID:35673428 PMID:36257325 More...
|
|
NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
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|
G
|
Cel
|
carboxyl ester lipase
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:25741868 |
|
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
|
|
G
|
Edem2
|
ER degradation enhancing alpha-mannosidase like protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
|
|
NCBI chr 3:164,661,741...164,687,559
Ensembl chr 3:144,201,605...144,227,485
|
|
G
|
Gck
|
glucokinase
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:1354782 PMID:1360036 PMID:1397713 PMID:1464666 PMID:1502186 PMID:3573714 PMID:7542040 PMID:7553875 PMID:7555485 PMID:7619052 PMID:7958490 PMID:8068341 PMID:8071309 PMID:8094163 PMID:8094164 PMID:8096296 PMID:8132752 PMID:8168652 PMID:8314448 PMID:8325892 PMID:8349034 PMID:8376578 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8495817 PMID:8897004 PMID:9000695 PMID:9049484 PMID:9075802 PMID:9078243 PMID:9435328 PMID:9536098 PMID:9662401 PMID:9867845 PMID:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10694920 PMID:10753050 PMID:10754480 PMID:10868935 PMID:11106831 PMID:11315851 PMID:11372010 PMID:11393552 PMID:11508276 PMID:11553210 PMID:11772903 PMID:11916951 PMID:11942313 PMID:12050210 PMID:12442280 PMID:12627330 PMID:12955723 PMID:14517946 PMID:14517956 PMID:14578306 PMID:14687251 PMID:15016359 PMID:15102714 PMID:15277402 PMID:15305805 PMID:15448103 PMID:15667334 PMID:15752705 PMID:15788789 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16059790 PMID:16173921 PMID:16199547 PMID:16378108 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16731834 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17099250 PMID:17186219 PMID:17204055 PMID:17353190 PMID:17389332 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18056790 PMID:18248649 PMID:18271687 PMID:18298419 PMID:18322640 PMID:18382660 PMID:18397317 PMID:18399931 PMID:18407139 PMID:18411240 PMID:18414213 PMID:18481947 PMID:19002431 PMID:19069349 PMID:19187021 PMID:19228875 PMID:19309449 PMID:19336674 PMID:19339519 PMID:19358091 PMID:19410318 PMID:19551638 PMID:19564454 PMID:19790256 PMID:19884385 PMID:19903754 PMID:20132997 PMID:20301620 PMID:20337973 PMID:20458967 PMID:21104275 PMID:21348868 PMID:21395678 PMID:21420961 PMID:21437567 PMID:21518409 PMID:21521320 PMID:21569204 PMID:21720051 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22035297 PMID:22060211 PMID:22065275 PMID:22101819 PMID:22291974 PMID:22298776 PMID:22335469 PMID:22341299 PMID:22389783 PMID:22493702 PMID:22540858 PMID:22611063 PMID:22761713 PMID:22773699 PMID:22808921 PMID:22820548 PMID:23009393 PMID:23085272 PMID:23295292 PMID:23352578 PMID:23433541 PMID:23476789 PMID:23506826 PMID:23624530 PMID:23771172 PMID:23771925 PMID:23778137 PMID:23957911 PMID:24033266 PMID:24097065 PMID:24323243 PMID:24411943 PMID:24430320 PMID:24549415 PMID:24568320 PMID:24578721 PMID:24677712 PMID:24723372 PMID:24728127 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25082184 PMID:25174781 PMID:25203462 PMID:25306193 PMID:25414397 PMID:25494859 PMID:25525159 PMID:25555642 PMID:25741868 PMID:25755231 PMID:25850297 PMID:25921421 PMID:25935773 PMID:26123671 PMID:26208450 PMID:26226118 PMID:26467025 PMID:26552609 PMID:26587058 PMID:26641800 PMID:26669242 PMID:27059371 PMID:27080136 PMID:27106716 PMID:27167055 PMID:27256595 PMID:27256596 PMID:27269892 PMID:27420379 PMID:27634015 PMID:27913849 PMID:27935851 PMID:28012402 PMID:28163940 PMID:28170077 PMID:28323911 PMID:28331372 PMID:28371533 PMID:28492532 PMID:28512030 PMID:28555465 PMID:28663157 PMID:28726111 PMID:28842611 PMID:29056535 PMID:29207974 PMID:29284910 PMID:29329106 PMID:29417725 PMID:29424410 PMID:29510678 PMID:29704611 PMID:29758564 PMID:29777474 PMID:29927023 PMID:29944009 PMID:30053375 PMID:30086370 PMID:30155490 PMID:30191644 PMID:30245511 PMID:30257192 PMID:30259503 PMID:30362177 PMID:30386132 PMID:30447144 PMID:30504769 PMID:30590153 PMID:30592380 PMID:30608898 PMID:30656436 PMID:30663027 PMID:30977832 PMID:31063852 PMID:31197960 PMID:31216263 PMID:31264968 PMID:31291970 PMID:31529753 PMID:31576961 PMID:31595705 PMID:31638168 PMID:31704690 PMID:31957151 PMID:31968686 PMID:32041611 PMID:32074423 PMID:32086287 PMID:32370465 PMID:32375122 PMID:32468610 PMID:32533152 PMID:32741144 PMID:32792356 PMID:32906206 PMID:33046911 PMID:33072637 PMID:33129248 PMID:33242514 PMID:33294763 PMID:33324081 PMID:33477506 PMID:33565752 PMID:33852230 PMID:34108472 PMID:34373539 PMID:34393998 PMID:34406393 PMID:34440516 PMID:34462253 PMID:34469064 PMID:34496959 PMID:34532767 PMID:34556497 PMID:34662886 PMID:34686905 PMID:34746319 PMID:34789499 PMID:34951656 PMID:35069449 PMID:35112188 PMID:35176401 PMID:35179904 PMID:35472491 PMID:35592779 PMID:35733065 PMID:35737141 PMID:36178555 PMID:36208030 PMID:36208343 PMID:36227502 PMID:36257325 PMID:36400171 PMID:36504295 PMID:36836406 PMID:37101203 PMID:38054414 PMID:38627865 PMID:39411314 More...
|
|
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
|
|
G
|
Hnf1a
|
HNF1 homeobox A
|
|
ISO
|
DNA:polymorphism: : (human) ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar RGD |
PMID:1985954 PMID:2975864 PMID:7842064 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9075819 PMID:9097962 PMID:9112026 PMID:9133564 PMID:9166684 PMID:9287053 PMID:9313763 PMID:9313764 PMID:9392505 PMID:9439666 PMID:9536098 PMID:9604876 PMID:9626139 PMID:9727913 PMID:9754819 PMID:9867222 PMID:10027593 PMID:10027594 PMID:10078571 PMID:10102714 PMID:10333057 PMID:10447526 PMID:10581189 PMID:10585442 PMID:10588527 PMID:10634407 PMID:10690959 PMID:10754480 PMID:10852449 PMID:10966642 PMID:11058894 PMID:11162430 PMID:11272211 PMID:11289470 PMID:11296231 PMID:11315828 PMID:11315851 PMID:11393552 PMID:11463573 PMID:11668618 PMID:11692182 PMID:11719843 PMID:11904371 PMID:11938027 PMID:11942313 PMID:11978663 PMID:12050210 PMID:12107757 PMID:12355088 PMID:12359128 PMID:12378390 PMID:12442280 PMID:12453420 PMID:12453976 PMID:12488961 PMID:12488962 PMID:12530534 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12646418 PMID:12675668 PMID:12788852 PMID:12832318 PMID:14598263 PMID:14614204 PMID:14747304 PMID:15031772 PMID:15114102 PMID:15277395 PMID:15305805 PMID:15387959 PMID:15522234 PMID:15649945 PMID:15657605 PMID:15726414 PMID:15761192 PMID:15841481 PMID:15883474 PMID:15928245 PMID:16046319 PMID:16186275 PMID:16199547 PMID:16223942 PMID:16249556 PMID:16274290 PMID:16496320 PMID:16562587 PMID:16602010 PMID:16834925 PMID:16917892 PMID:16930618 PMID:16963153 PMID:17033837 PMID:17054605 PMID:17062882 PMID:17116178 PMID:17192490 PMID:17220065 PMID:17407072 PMID:17407387 PMID:17425917 PMID:17440016 PMID:17496355 PMID:17573900 PMID:17576681 PMID:17601994 PMID:17700391 PMID:17919177 PMID:17924661 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18221440 PMID:18332101 PMID:18414213 PMID:18439552 PMID:18498634 PMID:18513302 PMID:18513305 PMID:18672310 PMID:18811724 PMID:18838325 PMID:19150152 PMID:19169489 PMID:19336507 PMID:19672314 PMID:19754856 PMID:19929997 PMID:20031592 PMID:20132997 PMID:20210571 PMID:20393147 PMID:20690076 PMID:20705777 PMID:20981092 PMID:21051477 PMID:21168233 PMID:21170474 PMID:21224407 PMID:21242637 PMID:21395678 PMID:21518407 PMID:21628466 PMID:21648289 PMID:21683639 PMID:21696527 PMID:21761282 PMID:21823540 PMID:22060211 PMID:22341299 PMID:22348187 PMID:22413961 PMID:22432108 PMID:22517943 PMID:22802087 PMID:22808921 PMID:23139355 PMID:23274891 PMID:23348805 PMID:23517481 PMID:23548576 PMID:23551881 PMID:23607861 PMID:23610083 PMID:23616187 PMID:23624530 PMID:23674172 PMID:23771172 PMID:23771925 PMID:23803251 PMID:24014008 PMID:24033266 PMID:24041679 PMID:24069322 PMID:24097065 PMID:24323243 PMID:24698406 PMID:24728327 PMID:24905847 PMID:24915262 PMID:24933231 PMID:25057215 PMID:25174781 PMID:25306193 PMID:25411618 PMID:25414397 PMID:25483937 PMID:25525159 PMID:25555642 PMID:25575005 PMID:25741868 PMID:25837654 PMID:25887915 PMID:25935773 PMID:26059258 PMID:26110317 PMID:26287533 PMID:26431509 PMID:26446475 PMID:26467025 PMID:26479152 PMID:26552609 PMID:26817999 PMID:26853433 PMID:26981542 PMID:26997508 PMID:27035118 PMID:27080136 PMID:27083284 PMID:27130141 PMID:27148439 PMID:27271189 PMID:27398945 PMID:27458973 PMID:27486234 PMID:27634015 PMID:27659712 PMID:27899486 PMID:27913849 PMID:27967291 PMID:28012402 PMID:28105082 PMID:28166811 PMID:28170077 PMID:28324025 PMID:28395978 PMID:28410371 PMID:28453780 PMID:28492532 PMID:28597946 PMID:28701371 PMID:28862987 PMID:28938416 PMID:29207974 PMID:29334895 PMID:29376044 PMID:29417725 PMID:29439679 PMID:29666556 PMID:29758564 PMID:29844095 PMID:29895593 PMID:29927023 PMID:30121369 PMID:30155490 PMID:30191644 PMID:30202817 PMID:30229274 PMID:30293189 PMID:30455330 PMID:30487145 PMID:30507613 PMID:30586318 PMID:30663027 PMID:30814848 PMID:31109344 PMID:31166087 PMID:31216263 PMID:31264968 PMID:31291970 PMID:31333579 PMID:31363388 PMID:31365591 PMID:31385057 PMID:31419515 PMID:31447099 PMID:31483937 PMID:31485449 PMID:31517624 PMID:31566143 PMID:31576961 PMID:31604004 PMID:31638168 PMID:31673528 PMID:31675503 PMID:31754975 PMID:31844173 PMID:31968565 PMID:31968686 PMID:32017842 PMID:32041611 PMID:32238361 PMID:32355288 PMID:32375679 PMID:32395877 PMID:32418360 PMID:32581083 PMID:32684311 PMID:32741144 PMID:32910913 PMID:32928877 PMID:33046911 PMID:33216280 PMID:33242514 PMID:33245425 PMID:33363396 PMID:33459938 PMID:33477506 PMID:33538814 PMID:33651556 PMID:33852230 PMID:33889819 PMID:33950347 PMID:34035238 PMID:34108472 PMID:34161864 PMID:34373539 PMID:34440499 PMID:34458657 PMID:34462253 PMID:34496959 PMID:34556497 PMID:34668636 PMID:34741762 PMID:34746319 PMID:34789499 PMID:34803393 PMID:34825797 PMID:35081418 PMID:35089870 PMID:35218126 PMID:35257744 PMID:35328643 PMID:35472491 PMID:35673428 PMID:35733065 PMID:35846334 PMID:36189138 PMID:36208030 PMID:36216889 PMID:36257325 PMID:36361808 PMID:36613572 PMID:36703223 PMID:37396188 PMID:38336780 PMID:38933241 PMID:23674172 More...
|
RGD:150540303 |
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
|
|
G
|
Hnf1b
|
HNF1 homeobox B
|
|
ISO
|
ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:2976441 PMID:9398836 PMID:10868855 PMID:11845238 PMID:12148114 PMID:12161522 PMID:12478351 PMID:14583183 PMID:15068978 PMID:15509593 PMID:15649945 PMID:15660195 PMID:15930087 PMID:16133182 PMID:16249435 PMID:16801329 PMID:16971658 PMID:17337496 PMID:17878605 PMID:18065799 PMID:18528323 PMID:19228875 PMID:19389850 PMID:19417042 PMID:19639018 PMID:20378641 PMID:20603712 PMID:20633866 PMID:21163139 PMID:21380624 PMID:21775974 PMID:22034641 PMID:22051731 PMID:22114815 PMID:22432796 PMID:22706971 PMID:23979948 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24254850 PMID:24429398 PMID:24476040 PMID:24897035 PMID:25441779 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25705165 PMID:25741167 PMID:25741868 PMID:26319241 PMID:26340261 PMID:26467025 PMID:26489027 PMID:26552609 PMID:26899772 PMID:27234567 PMID:27297286 PMID:27615128 PMID:27913849 PMID:28166811 PMID:28215227 PMID:28251383 PMID:28274157 PMID:28420700 PMID:28453780 PMID:28492532 PMID:29100090 PMID:29207974 PMID:29764441 PMID:29927023 PMID:30191644 PMID:30259503 PMID:30476936 PMID:30481753 PMID:30548481 PMID:30655312 PMID:30663027 PMID:30666461 PMID:31057226 PMID:31131422 PMID:31198537 PMID:31291970 PMID:31365591 PMID:31498910 PMID:31825128 PMID:32041611 PMID:32164334 PMID:32266039 PMID:32939031 PMID:33259036 PMID:33305128 PMID:33434175 PMID:33532864 PMID:33574344 PMID:34974531 PMID:35643372 PMID:35846334 PMID:36090499 PMID:36208030 PMID:36522156 PMID:36549658 PMID:36572455 PMID:36613572 PMID:36793123 PMID:37078890 More...
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|
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
|
|
G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:193395 PMID:9267996 PMID:9313765 PMID:9449683 PMID:10227563 PMID:10389854 PMID:10447526 PMID:10592235 PMID:10606640 PMID:10768098 PMID:10819248 PMID:10983627 PMID:11043869 PMID:11232004 PMID:11272211 PMID:12110948 PMID:12193589 PMID:12203996 PMID:12220494 PMID:12627330 PMID:12669197 PMID:15111529 PMID:15281001 PMID:15761495 PMID:15793260 PMID:15830177 PMID:15928245 PMID:16199547 PMID:16223942 PMID:16602010 PMID:16640558 PMID:16883527 PMID:16917892 PMID:16946562 PMID:17407387 PMID:17563455 PMID:17573900 PMID:18268044 PMID:18356407 PMID:18414213 PMID:18811724 PMID:18829458 PMID:19406499 PMID:19478207 PMID:20164212 PMID:20705777 PMID:21105491 PMID:21353246 PMID:21683639 PMID:21922456 PMID:22060211 PMID:22308320 PMID:22662265 PMID:22802087 PMID:23227446 PMID:23247789 PMID:23268925 PMID:23275527 PMID:23348805 PMID:23485969 PMID:23551881 PMID:23771925 PMID:24033266 PMID:24097065 PMID:24285859 PMID:24947580 PMID:25041077 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25631608 PMID:25741868 PMID:25819479 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26552609 PMID:26971647 PMID:26981542 PMID:27080136 PMID:27245055 PMID:27420379 PMID:27486234 PMID:27552834 PMID:27810688 PMID:27846149 PMID:27884173 PMID:27913849 PMID:28166811 PMID:28242437 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28701371 PMID:28844315 PMID:28862987 PMID:29207974 PMID:29355436 PMID:29417725 PMID:29493090 PMID:29792621 PMID:29998026 PMID:30004997 PMID:30005691 PMID:30026763 PMID:30191603 PMID:30191644 PMID:30325586 PMID:30447144 PMID:30586318 PMID:30648609 PMID:30663027 PMID:30665703 PMID:30977832 PMID:31264968 PMID:31291970 PMID:31523701 PMID:31529154 PMID:31529156 PMID:31595705 PMID:31704690 PMID:31825128 PMID:31875549 PMID:31957151 PMID:31968686 PMID:32418360 PMID:32533152 PMID:32583173 PMID:33770274 PMID:33846082 PMID:34373539 PMID:34440499 PMID:34556497 PMID:34789499 PMID:34805411 PMID:35052457 PMID:35089870 PMID:35118593 PMID:35256061 PMID:35737141 PMID:36208030 PMID:36227502 PMID:36257325 PMID:36504295 PMID:37812285 PMID:38375489 More...
|
|
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
|
|
G
|
Ins1
|
insulin 1
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20007936 PMID:24411943 PMID:25542748 PMID:25741868 PMID:25781672 PMID:26101329 PMID:26467025 PMID:27634015 PMID:27635400 PMID:28492532 PMID:30456822 PMID:33206859 PMID:33953728 More...
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|
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
|
|
G
|
Ins2
|
insulin 2
|
|
ISS ISO
|
OMIM:606391 ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
MouseDO ClinVar |
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20007936 PMID:22572540 PMID:24275212 PMID:24411943 PMID:25542748 PMID:25741868 PMID:25781672 PMID:26101329 PMID:26467025 PMID:27634015 PMID:27635400 PMID:28492532 PMID:30455893 PMID:30456822 PMID:33206859 PMID:33953728 PMID:35083481 More...
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|
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
|
|
G
|
Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
|
|
ISO
|
ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:1422196 PMID:2270156 PMID:2462236 PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 PMID:10338089 PMID:10559219 PMID:11318841 PMID:11395395 PMID:11585851 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12364426 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14692646 PMID:14715863 PMID:15111507 PMID:15115830 PMID:15292329 PMID:15504982 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15784703 PMID:15797964 PMID:15855351 PMID:15886397 PMID:15998776 PMID:16123337 PMID:16166157 PMID:16357843 PMID:16403845 PMID:16416420 PMID:16455067 PMID:16731837 PMID:16885549 PMID:17021801 PMID:17114887 PMID:17257281 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17490422 PMID:17491708 PMID:17652641 PMID:17673911 PMID:17728498 PMID:17823772 PMID:17956278 PMID:18250167 PMID:18414213 PMID:18556340 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19372376 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20301620 PMID:20424228 PMID:20589481 PMID:20642364 PMID:20685672 PMID:20686794 PMID:20694718 PMID:21115269 PMID:21119644 PMID:21422196 PMID:21544516 PMID:21812132 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22768671 PMID:22831748 PMID:23226049 PMID:23275527 PMID:23320570 PMID:23345197 PMID:23652837 PMID:23667671 PMID:23798684 PMID:23950723 PMID:24018988 PMID:24068186 PMID:24401662 PMID:24434300 PMID:24622368 PMID:25201519 PMID:25247988 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26509005 PMID:26545876 PMID:26958039 PMID:27033559 PMID:27118464 PMID:27188453 PMID:27681997 PMID:27691052 PMID:27908292 PMID:28123437 PMID:28347637 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28925365 PMID:29439679 PMID:29893194 PMID:30297969 PMID:30377186 PMID:30386300 PMID:30663027 PMID:30873120 PMID:31291970 PMID:31464105 PMID:32027066 PMID:32041611 PMID:32101525 PMID:32893419 PMID:32935446 PMID:33324081 PMID:33502061 PMID:33538814 PMID:33762279 PMID:34566892 PMID:34737607 PMID:35114785 PMID:35612844 PMID:36208030 PMID:36873092 PMID:37664823 More...
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|
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
|
|
G
|
Klf11
|
KLF transcription factor 11
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:25741868 |
|
NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
|
|
G
|
Lmna
|
lamin A/C
|
|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
|
ClinVar |
PMID:11102973 PMID:25741868 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G
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Mafa
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MAF bZIP transcription factor A
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ISS
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OMIM:606391
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MouseDO |
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NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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G
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Mlkl
|
mixed lineage kinase domain like pseudokinase
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ISO
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ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
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ClinVar |
PMID:25741868 |
|
NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
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G
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Neurod1
|
neuronal differentiation 1
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ISO
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ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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G
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Pax4
|
paired box 4
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ISO
|
ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
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ClinVar |
PMID:11723072 PMID:15509590 PMID:15596543 PMID:16423628 PMID:18414213 PMID:21263211 PMID:25741868 PMID:25951767 PMID:27334367 PMID:28492532 PMID:31264968 PMID:32801813 PMID:33031055 More...
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NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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G
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Pdx1
|
pancreatic and duodenal homeobox 1
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|
ISS ISO
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OMIM:606391 ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
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MouseDO ClinVar |
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 PMID:11315851 PMID:11772903 PMID:11914043 PMID:11978663 PMID:12099699 PMID:12618559 PMID:12677187 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15170499 PMID:15277425 PMID:15754742 PMID:15883474 PMID:16092045 PMID:16741735 PMID:17126328 PMID:17592437 PMID:19228875 PMID:19496967 PMID:19515026 PMID:19817786 PMID:19855005 PMID:20621032 PMID:21569088 PMID:23331010 PMID:24097065 PMID:24464100 PMID:25041077 PMID:25741868 PMID:26058934 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27535533 PMID:27879211 PMID:27884173 PMID:28095440 PMID:28436541 PMID:28492532 PMID:28609558 PMID:29396371 PMID:29439679 PMID:30709774 PMID:30930126 PMID:31366392 PMID:34988346 More...
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NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G
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Ptf1a
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pancreas associated transcription factor 1a
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|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
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ClinVar |
PMID:25741868 |
|
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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G
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Rfx6
|
regulatory factor X, 6
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ISO
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ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
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ClinVar |
PMID:25741868 PMID:29026101 PMID:31001871 |
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NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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G
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Tgm2
|
transglutaminase 2
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ISS
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OMIM:606391
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MouseDO |
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NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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G
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Th
|
tyrosine hydroxylase
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|
ISO
|
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
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ClinVar |
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:22572540 PMID:24275212 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30455893 PMID:30456822 PMID:33206859 PMID:33953728 PMID:35083481 More...
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NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G
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Abcc8
|
ATP binding cassette subfamily C member 8
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ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:1021286 PMID:3202066 PMID:7716548 PMID:7908292 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10923633 PMID:10993895 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11395395 PMID:11457841 PMID:11692183 PMID:11697420 PMID:11867634 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12199344 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15807877 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:19933268 PMID:20301549 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21674179 PMID:21716120 PMID:21738553 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22082043 PMID:22151254 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22308858 PMID:22533711 PMID:22591706 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23563683 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23798684 PMID:23926410 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24814349 PMID:24937539 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25931474 PMID:25972930 PMID:26162674 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26594346 PMID:26740944 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27681997 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28018462 PMID:28123437 PMID:28270372 PMID:28346775 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28663158 PMID:28701683 PMID:28757749 PMID:28791793 PMID:29082728 PMID:29127764 PMID:29207974 PMID:29644095 PMID:29751826 PMID:29893194 PMID:30004997 PMID:30098243 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30193751 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30753133 PMID:30873120 PMID:30977832 PMID:31110826 PMID:31208162 PMID:31216263 PMID:31218401 PMID:31264968 PMID:31291970 PMID:31464105 PMID:31589614 PMID:31604004 PMID:31727138 PMID:31821855 PMID:31957151 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33013711 PMID:33046911 PMID:33240318 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33565752 PMID:33587123 PMID:34055426 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34304300 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34682101 PMID:34741762 PMID:34764980 PMID:34927408 PMID:35029855 PMID:35402560 PMID:35475025 PMID:36034573 PMID:36144251 PMID:36208030 PMID:36239000 PMID:36339418 PMID:36407475 PMID:36504295 PMID:36836406 PMID:37007940 PMID:37071846 PMID:38095268 PMID:38513803 More...
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NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
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Acads
|
acyl-CoA dehydrogenase short chain
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:18523805 PMID:25741868 PMID:28492532 |
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NCBI chr12:47,154,259...47,163,580
Ensembl chr12:41,493,626...41,502,898
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G
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Acp7
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acid phosphatase 7, tartrate resistant
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:83,896,485...83,923,436
Ensembl chr 1:83,898,153...83,920,634
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G
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Actn4
|
actinin alpha 4
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:93,310,294...93,379,369
Ensembl chr 1:84,182,788...84,251,847
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G
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Akt2
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AKT serine/threonine kinase 2
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:9536098 PMID:15166380 PMID:16722806 PMID:17327441 PMID:17576681 PMID:19164855 PMID:21518566 PMID:21979934 PMID:25741868 PMID:28341696 PMID:28492532 PMID:32041611 PMID:33848288 More...
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NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
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G
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C12h12orf43
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similar to human chromosome 12 open reading frame 43
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:25057215 PMID:25741868 |
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NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
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G
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C17h10orf67
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similar to human chromosome 10 open reading frame 67
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
|
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NCBI chr17:82,062,461...82,174,401
Ensembl chr17:82,071,838...82,174,353
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G
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C1h19orf47
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similar to human chromosome 19 open reading frame 47
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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G
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Capn12
|
calpain 12
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ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:84,171,059...84,183,161
Ensembl chr 1:84,171,059...84,183,119
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G
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Cd36
|
CD36 molecule
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ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:16911630 PMID:16952981 PMID:25741868 PMID:32347024 PMID:32796572 |
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NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G
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Cdkal1
|
CDK5 regulatory subunit associated protein 1-like 1
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ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:24760768 |
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NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524
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G
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Cel
|
carboxyl ester lipase
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:25741868 |
|
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G
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Dll3
|
delta like canonical Notch ligand 3
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ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:83,562,014...83,569,750
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G
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Dyrk1b
|
dual specificity tyrosine phosphorylation regulated kinase 1B
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ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:83,479,147...83,487,169
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G
|
Ech1
|
enoyl-CoA hydratase 1
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
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G
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Eid2
|
EP300 interacting inhibitor of differentiation 2
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,538,274...83,539,599
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G
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Eid2b
|
EP300 interacting inhibitor of differentiation 2B
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
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G
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Enpp1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:8960499 PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29244957 PMID:29979387 PMID:33005041 PMID:34609116 PMID:35738466 More...
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NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715
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|
G
|
Fbl
|
fibrillarin
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
|
|
G
|
Fbxo17
|
F-box protein 17
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,002,276...84,024,455
Ensembl chr 1:84,002,267...84,024,453
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|
G
|
Fbxo27
|
F-box protein 27
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,965,426...83,987,781
Ensembl chr 1:83,965,986...83,987,778
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|
G
|
Fcgbp
|
Fc gamma binding protein
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
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|
G
|
Gcgr
|
glucagon receptor
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:7773293 PMID:8563746 PMID:25741868 PMID:28492532 |
|
NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640
|
|
G
|
Gck
|
glucokinase
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:1360036 PMID:1397713 PMID:1502186 PMID:2555564 PMID:7553875 PMID:8068341 PMID:8094163 PMID:8094164 PMID:8096296 PMID:8168652 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8495817 PMID:8897004 PMID:9000695 PMID:9049484 PMID:9075802 PMID:9078243 PMID:9435328 PMID:9536098 PMID:9736233 PMID:9867845 PMID:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10753050 PMID:11315828 PMID:11372010 PMID:11508276 PMID:11553210 PMID:11692182 PMID:11942313 PMID:12050210 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:15305805 PMID:15448103 PMID:15580558 PMID:15657605 PMID:15677479 PMID:15841481 PMID:15928245 PMID:16059790 PMID:16173921 PMID:16199547 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16731834 PMID:16938872 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17186219 PMID:17204055 PMID:17230658 PMID:17389332 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18271687 PMID:18322640 PMID:18382660 PMID:18399931 PMID:18411240 PMID:18481947 PMID:19002431 PMID:19069349 PMID:19187021 PMID:19309449 PMID:19515026 PMID:19564454 PMID:19790256 PMID:20301620 PMID:20337973 PMID:21104275 PMID:21348868 PMID:21437567 PMID:21521320 PMID:21569204 PMID:21604084 PMID:21696527 PMID:21720051 PMID:21831042 PMID:21921030 PMID:22028181 PMID:22060211 PMID:22291974 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22525692 PMID:22611063 PMID:22761713 PMID:22773699 PMID:22820548 PMID:23275527 PMID:23295287 PMID:23295292 PMID:23306198 PMID:23771172 PMID:23771925 PMID:23890519 PMID:24033266 PMID:24097065 PMID:24323243 PMID:24430320 PMID:24518839 PMID:24549415 PMID:24568320 PMID:24578721 PMID:24660669 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25723349 PMID:25741868 PMID:25850297 PMID:26123671 PMID:26467025 PMID:26552609 PMID:26587058 PMID:26641800 PMID:27080136 PMID:27185633 PMID:27256595 PMID:27269892 PMID:27271189 PMID:27913849 PMID:28012402 PMID:28170077 PMID:28492532 PMID:28555465 PMID:28663157 PMID:28701371 PMID:28726111 PMID:28842611 PMID:29056535 PMID:29207974 PMID:29510678 PMID:29704611 PMID:29777474 PMID:29927023 PMID:30155490 PMID:30191644 PMID:30245511 PMID:30257192 PMID:30259503 PMID:30447144 PMID:30590153 PMID:30592380 PMID:30656436 PMID:30663027 PMID:31063852 PMID:31197960 PMID:31216263 PMID:31264968 PMID:31291970 PMID:31529753 PMID:31576961 PMID:31638168 PMID:31956423 PMID:31957151 PMID:31968686 PMID:32017842 PMID:32041611 PMID:32074423 PMID:32375122 PMID:32533152 PMID:32741144 PMID:32792356 PMID:33046911 PMID:33129248 PMID:33294763 PMID:33477506 PMID:33565752 PMID:33852230 PMID:34023340 PMID:34108472 PMID:34393998 PMID:34440516 PMID:34496959 PMID:34532767 PMID:34556497 PMID:34662886 PMID:34686905 PMID:34746319 PMID:34789499 PMID:35229243 PMID:35472491 PMID:35592779 PMID:35737141 PMID:36178555 PMID:36208030 PMID:36208343 PMID:36227502 PMID:36257325 PMID:36400171 PMID:36418577 PMID:36504295 PMID:36613572 PMID:37008541 PMID:37101203 PMID:38054414 PMID:38627865 More...
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|
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
|
|
G
|
Gmfg
|
glia maturation factor, gamma
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,728,797...83,739,189
Ensembl chr 1:83,728,776...83,739,183
|
|
G
|
Gpd2
|
glycerol-3-phosphate dehydrogenase 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:9070847 PMID:25741868 |
|
NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
|
|
G
|
Hipk4
|
homeodomain interacting protein kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
|
|
G
|
Hnf1a
|
HNF1 homeobox A
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:7842064 PMID:8945470 PMID:9075818 PMID:9112026 PMID:9133564 PMID:9287053 PMID:9313764 PMID:9392505 PMID:9604876 PMID:9754819 PMID:10333057 PMID:10588527 PMID:10634407 PMID:10852449 PMID:10966642 PMID:11058894 PMID:11296231 PMID:11393552 PMID:11942313 PMID:12355088 PMID:12359128 PMID:12574234 PMID:12627330 PMID:12675668 PMID:12788852 PMID:12832318 PMID:15031772 PMID:15649945 PMID:15657605 PMID:15761192 PMID:15883474 PMID:15928245 PMID:16917892 PMID:16963153 PMID:17033837 PMID:17062882 PMID:17192490 PMID:17220065 PMID:17407072 PMID:17425917 PMID:17440016 PMID:17573900 PMID:17937063 PMID:18003757 PMID:18332101 PMID:18414213 PMID:18439552 PMID:18498634 PMID:18811724 PMID:19169489 PMID:19754856 PMID:19929997 PMID:20031592 PMID:20393147 PMID:20690076 PMID:20705777 PMID:21170474 PMID:21518407 PMID:21696527 PMID:21761282 PMID:22348187 PMID:22432108 PMID:22517943 PMID:23139355 PMID:23348805 PMID:23607861 PMID:24033266 PMID:24097065 PMID:24728327 PMID:24915262 PMID:24933231 PMID:25057215 PMID:25414397 PMID:25555642 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26431509 PMID:26467025 PMID:26981542 PMID:27035118 PMID:27080136 PMID:27130141 PMID:27148439 PMID:27458973 PMID:27899486 PMID:28105082 PMID:28395978 PMID:28453780 PMID:28492532 PMID:28701371 PMID:29207974 PMID:29376044 PMID:29758564 PMID:29844095 PMID:29895593 PMID:30155490 PMID:30191644 PMID:30202817 PMID:30293189 PMID:30455330 PMID:31109344 PMID:31264968 PMID:31365591 PMID:31385057 PMID:31485449 PMID:31517624 PMID:31566143 PMID:31576961 PMID:31638168 PMID:31673528 PMID:31844173 PMID:31968565 PMID:32041611 PMID:32238361 PMID:32355288 PMID:32395877 PMID:32741144 PMID:32910913 PMID:32928877 PMID:33046911 PMID:33363396 PMID:33477506 PMID:33651556 PMID:33889819 PMID:34668636 PMID:34803393 PMID:34825797 PMID:35218126 PMID:35328643 PMID:35673428 PMID:36208343 More...
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|
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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|
G
|
Hnf1b
|
HNF1 homeobox B
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:9398836 PMID:12148114 PMID:12161522 PMID:14583183 PMID:15068978 PMID:15509593 PMID:15649945 PMID:15660195 PMID:15930087 PMID:16249435 PMID:17116179 PMID:18249217 PMID:18528323 PMID:18644064 PMID:19639018 PMID:20378641 PMID:21163139 PMID:21380624 PMID:21775974 PMID:22051731 PMID:22432796 PMID:22706971 PMID:23539225 PMID:24097065 PMID:24254850 PMID:24429398 PMID:24897035 PMID:25441779 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25705165 PMID:25741167 PMID:25741868 PMID:26340261 PMID:26467025 PMID:27234567 PMID:27615128 PMID:28215227 PMID:28420700 PMID:28453780 PMID:28492532 PMID:29764441 PMID:29927023 PMID:30143558 PMID:30191644 PMID:30476936 PMID:30481753 PMID:30548481 PMID:30655312 PMID:30666461 PMID:31198537 PMID:31291970 PMID:31498910 PMID:31825128 PMID:32041611 PMID:32266039 PMID:32708349 PMID:33046911 PMID:33434175 PMID:33532864 PMID:33663443 PMID:33851123 PMID:34974531 PMID:35643372 PMID:36208030 PMID:36549658 PMID:36613572 More...
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|
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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|
G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
ISO ISS
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125850 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:193395 PMID:8945471 PMID:9243109 PMID:9267996 PMID:9294105 PMID:9313765 PMID:9371825 PMID:9449683 PMID:9920109 PMID:10227563 PMID:10331424 PMID:10389854 PMID:10447526 PMID:10592235 PMID:10606640 PMID:10768098 PMID:10819248 PMID:10905494 PMID:10983627 PMID:11043869 PMID:11232004 PMID:11272211 PMID:11435618 PMID:11575290 PMID:12050210 PMID:12110948 PMID:12193589 PMID:12203996 PMID:12220494 PMID:12235114 PMID:12242469 PMID:12627330 PMID:12669197 PMID:15111529 PMID:15123688 PMID:15281001 PMID:15728204 PMID:15761495 PMID:15793260 PMID:15826954 PMID:15830177 PMID:15928245 PMID:16199547 PMID:16223942 PMID:16602010 PMID:16640558 PMID:16883527 PMID:16917892 PMID:16946562 PMID:17389749 PMID:17407387 PMID:17563455 PMID:18268044 PMID:18356407 PMID:18414213 PMID:18666237 PMID:18811724 PMID:18829458 PMID:19478207 PMID:20164212 PMID:20705777 PMID:21062274 PMID:21105491 PMID:21115832 PMID:21353246 PMID:21683639 PMID:22140441 PMID:22232426 PMID:22308320 PMID:22662265 PMID:22802087 PMID:23227446 PMID:23247789 PMID:23268925 PMID:23275527 PMID:23348805 PMID:23485969 PMID:23506826 PMID:23551881 PMID:23771925 PMID:24033266 PMID:24097065 PMID:24285859 PMID:24476040 PMID:24947580 PMID:25041077 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25631608 PMID:25741868 PMID:25819479 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26552609 PMID:26740944 PMID:26971647 PMID:26981542 PMID:27080136 PMID:27245055 PMID:27420379 PMID:27486234 PMID:27552834 PMID:27884173 PMID:27913849 PMID:28166811 PMID:28242437 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28701371 PMID:28844315 PMID:28862987 PMID:29207974 PMID:29355436 PMID:29493090 PMID:29792621 PMID:29998026 PMID:30005691 PMID:30191603 PMID:30191644 PMID:30293189 PMID:30325586 PMID:30447144 PMID:30648609 PMID:30663027 PMID:30665703 PMID:30977832 PMID:31264968 PMID:31291970 PMID:31523701 PMID:31529154 PMID:31529156 PMID:31578528 PMID:31595705 PMID:31825128 PMID:31875549 PMID:31968686 PMID:32041611 PMID:32170320 PMID:32418360 PMID:32533152 PMID:32583173 PMID:33046911 PMID:33770274 PMID:33846082 PMID:34373539 PMID:34440499 PMID:34556497 PMID:34789499 PMID:34805411 PMID:35052457 PMID:35089870 PMID:35118593 PMID:35256061 PMID:35737141 PMID:36208030 PMID:36227502 PMID:36257325 PMID:36504295 PMID:37812285 PMID:38375489 More...
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|
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
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|
G
|
Hnrnpl
|
heterogeneous nuclear ribonucleoprotein L
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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|
G
|
Ifnl1
|
interferon, lambda 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,926,184...92,927,830
Ensembl chr 1:83,798,703...83,800,235
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G
|
Ifnl3
|
interferon, lambda 3
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,941,988...92,943,628
Ensembl chr 1:83,814,564...83,816,096
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G
|
Ins1
|
insulin 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:20226046 PMID:20301620 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28993341 PMID:30456822 More...
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|
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
|
Ins2
|
insulin 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:20226046 PMID:20301620 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28993341 PMID:30456822 PMID:33830302 More...
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|
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
|
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G
|
Insr
|
insulin receptor
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:1607076 PMID:2040394 PMID:7814014 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 PMID:31989990 More...
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|
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
|
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G
|
Irs1
|
insulin receptor substrate 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:11775217 PMID:12679424 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
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G
|
Irs2
|
insulin receptor substrate 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:10525667 PMID:11030756 PMID:11473060 PMID:11600548 PMID:25741868 |
|
NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482
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G
|
Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:1422196 PMID:9867219 PMID:10559219 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15448107 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15855351 PMID:15998776 PMID:16166157 PMID:16332676 PMID:16357843 PMID:16455067 PMID:16670688 PMID:17021801 PMID:17114887 PMID:17257281 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:17956278 PMID:18250167 PMID:18414213 PMID:18559200 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20301620 PMID:20424228 PMID:20589481 PMID:20685672 PMID:20686794 PMID:20980454 PMID:21115269 PMID:21573802 PMID:21765448 PMID:22005014 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22289434 PMID:22311976 PMID:22512215 PMID:22591706 PMID:22619292 PMID:22701567 PMID:22704848 PMID:22831748 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23462667 PMID:23798684 PMID:24383515 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24686051 PMID:25201519 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:26590798 PMID:26839896 PMID:27118464 PMID:27181376 PMID:27188453 PMID:27908292 PMID:28123437 PMID:28173619 PMID:28262438 PMID:28270372 PMID:28350539 PMID:28352326 PMID:28442472 PMID:28492532 PMID:28766502 PMID:28938416 PMID:29216354 PMID:29361385 PMID:29454299 PMID:29893194 PMID:30377186 PMID:31195986 PMID:31218401 PMID:32027066 PMID:32418263 PMID:32792356 PMID:32935446 PMID:33046911 PMID:33502061 PMID:33611546 PMID:33762279 PMID:33852230 PMID:33853507 PMID:34465386 PMID:34566892 PMID:35402560 PMID:36208030 More...
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|
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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|
G
|
Klf11
|
KLF transcription factor 11
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:15774581 PMID:18199129 PMID:25741868 PMID:28492532 PMID:34393998 |
|
NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
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|
G
|
Ksr2
|
kinase suppressor of ras 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:24209692 PMID:25741868 |
|
NCBI chr12:44,462,579...44,848,555
Ensembl chr12:38,802,004...39,188,375
|
|
G
|
Lgals4
|
galectin 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,124,766...84,132,481
Ensembl chr 1:84,124,764...84,132,481
|
|
G
|
Lgals5
|
galectin 5
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
|
|
G
|
Lgals7
|
galectin 7
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,148,612...84,152,016
Ensembl chr 1:84,150,252...84,152,015
|
|
G
|
Lipc
|
lipase C, hepatic type
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25741868 PMID:25995285 PMID:28492532 PMID:28870971 PMID:30333156 PMID:32041611 More...
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|
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
|
|
G
|
Lrfn1
|
leucine rich repeat and fibronectin type III domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,742,442...83,761,450
Ensembl chr 1:83,682,964...83,761,449
|
|
G
|
Map3k10
|
mitogen activated protein kinase kinase kinase 10
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:82,955,207...82,974,084
|
|
G
|
Mapk8ip1
|
mitogen-activated protein kinase 8 interacting protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
|
|
NCBI chr 3:98,810,540...98,829,302
Ensembl chr 3:78,355,048...78,372,884
|
|
G
|
Matn4
|
matrilin 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
|
|
NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
|
|
G
|
Med29
|
mediator complex subunit 29
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,677,961...83,683,365
Ensembl chr 1:83,677,961...83,683,365
|
|
G
|
Mrps12
|
mitochondrial ribosomal protein S12
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,025,896...84,028,896
Ensembl chr 1:84,025,899...84,028,780
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G
|
Nccrp1
|
NCCRP1, F-box associated domain containing
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,835,083...83,838,620
Ensembl chr 1:83,835,083...83,838,676
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G
|
Neurod1
|
neuronal differentiation 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:10545951 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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G
|
Nfkbib
|
NFKB inhibitor beta
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:93,173,817...93,181,387
Ensembl chr 1:84,046,295...84,053,862
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G
|
Paf1
|
PAF1 homolog, Paf1/RNA polymerase II complex component
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,811,197...92,816,775
Ensembl chr 1:83,668,813...83,689,237
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G
|
Pak4
|
p21 (RAC1) activated kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,977,437...93,016,721
Ensembl chr 1:83,849,904...83,859,413
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G
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Pax4
|
paired box 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:9536098 PMID:11723072 PMID:15596543 PMID:16423628 PMID:17576681 PMID:18414213 PMID:21263211 PMID:25741868 PMID:25951767 PMID:27334367 PMID:28492532 PMID:31264968 PMID:32801813 PMID:33031055 More...
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NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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G
|
Pdx1
|
pancreatic and duodenal homeobox 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 PMID:11315851 PMID:11914043 PMID:12618559 PMID:14764823 PMID:15001545 PMID:15170499 PMID:15277425 PMID:15754742 PMID:16092045 PMID:16741735 PMID:17126328 PMID:17592437 PMID:19228875 PMID:19515026 PMID:21569088 PMID:24097065 PMID:25041077 PMID:25741868 PMID:26058934 PMID:26467025 PMID:27535533 PMID:27879211 PMID:27879214 PMID:27884173 PMID:28095440 PMID:28492532 PMID:28609558 PMID:29439679 PMID:30191644 PMID:30709774 PMID:30930126 More...
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NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G
|
Pld3
|
phospholipase D family, member 3
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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G
|
Plekhg2
|
pleckstrin homology and RhoGEF domain containing G2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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G
|
Pparg
|
peroxisome proliferator-activated receptor gamma
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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G
|
Ppp1r3a
|
protein phosphatase 1, regulatory subunit 3A
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:7581368 PMID:25741868 |
|
NCBI chr 4:43,905,648...43,946,236
Ensembl chr 4:42,939,599...42,980,638
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|
G
|
Prx
|
periaxin
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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G
|
Psmc4
|
proteasome 26S subunit, ATPase 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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|
G
|
Ptf1a
|
pancreas associated transcription factor 1a
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
|
|
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
|
|
G
|
Rbpj
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:25741868 PMID:29924900 |
|
NCBI chr14:61,551,366...61,736,220
Ensembl chr14:57,338,507...57,523,353
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G
|
Rbpjl
|
recombination signal binding protein for immunoglobulin kappa J region-like
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:25741868 |
|
NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
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G
|
Rinl
|
Ras and Rab interactor-like
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,077,011...84,088,590
Ensembl chr 1:84,077,265...84,088,330
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G
|
Rps16
|
ribosomal protein S16
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206 Ensembl chr19:83,643,130...83,646,206
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G
|
Samd4b
|
sterile alpha motif domain containing 4B
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,689,413...83,728,652
Ensembl chr 1:83,689,413...83,713,853
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G
|
Sars2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
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G
|
Sdc4
|
syndecan 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
|
|
NCBI chr 3:173,574,239...173,592,923
Ensembl chr 3:153,154,896...153,173,580
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|
G
|
Selenov
|
selenoprotein V
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
|
|
G
|
Sirt2
|
sirtuin 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:93,181,472...93,204,499
Ensembl chr 1:84,052,903...84,076,975
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|
G
|
Slc2a2
|
solute carrier family 2 member 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:8027028 PMID:8063045 PMID:9354798 PMID:11810292 PMID:13480676 PMID:15397919 PMID:16199547 PMID:17636114 PMID:22145468 PMID:22214819 PMID:22865906 PMID:24033266 PMID:24718840 PMID:25741868 PMID:26495765 PMID:27035118 PMID:27487919 PMID:28492532 PMID:30950137 PMID:34669123 PMID:34828390 PMID:35738466 More...
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|
NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:111,611,774...111,639,933
|
|
G
|
Slc2a4
|
solute carrier family 2 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:1397719 PMID:1918382 PMID:7814014 PMID:25741868 |
|
NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565
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|
G
|
Slc30a8
|
solute carrier family 30 member 8
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:24584071 PMID:25741868 PMID:31676859 |
|
NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305
|
|
G
|
Slpi
|
secretory leukocyte peptidase inhibitor
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
|
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NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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G
|
Supt5h
|
SPT5 homolog, DSIF elongation factor subunit
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
|
|
G
|
Sycn
|
syncollin
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,823,836...83,833,542
Ensembl chr 1:83,832,102...83,833,538
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G
|
Tcf7l2
|
transcription factor 7 like 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:25741868 |
|
NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967
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G
|
Th
|
tyrosine hydroxylase
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 |
|
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
|
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G
|
Timm50
|
translocase of inner mitochondrial membrane 50
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:83,556,757...83,582,793
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|
G
|
Ttc9b
|
tetratricopeptide repeat domain 9B
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:82,953,434...82,955,616
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G
|
Wfs1
|
wolframin ER transmembrane glycoprotein
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:1161832 PMID:3126496 PMID:3442652 PMID:3478949 PMID:3620803 PMID:9536098 PMID:9771706 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12707373 PMID:12754709 PMID:12913071 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16353398 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:22226368 PMID:22238590 PMID:22781099 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23595122 PMID:23596069 PMID:23967202 PMID:23981289 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 PMID:25289672 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26064370 PMID:26284228 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27045389 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28974383 PMID:29207974 PMID:29529044 PMID:29549887 PMID:29563951 PMID:29632382 PMID:29988211 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32219690 PMID:32350710 PMID:32883240 PMID:33046911 PMID:33116287 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34426522 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34789499 PMID:34837038 PMID:35018440 PMID:35206658 PMID:35469785 PMID:35472603 PMID:35602877 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36597107 PMID:36729443 PMID:37108562 PMID:37277527 PMID:37337769 PMID:37415600 PMID:37508961 PMID:37510321 PMID:37719678 PMID:38219857 PMID:38400873 More...
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|
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
|
Wrn
|
WRN RecQ like helicase
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:20443122 PMID:25741868 PMID:28492532 |
|
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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G
|
Zfp11
|
zinc finger protein 11
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
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G
|
Zfp36
|
zinc finger protein 36
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,796,628...92,799,108
Ensembl chr 1:83,669,084...83,671,564
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G
|
Znf780b
|
zinc finger protein 780B
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
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|
|
G
|
Ins1
|
insulin 1
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10
|
ClinVar |
PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 PMID:8636380 PMID:9667398 PMID:11921414 PMID:12610512 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20034470 PMID:20226046 PMID:20938745 PMID:20948967 PMID:24097065 PMID:24411943 PMID:24770419 PMID:25423173 PMID:25542748 PMID:25741868 PMID:25781672 PMID:26101329 PMID:26467025 PMID:27634015 PMID:27635400 PMID:27659712 PMID:28478482 PMID:28492532 PMID:29758564 PMID:30456822 PMID:32916194 PMID:33206859 PMID:33953728 PMID:34174481 PMID:34789499 More...
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|
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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|
G
|
Ins2
|
insulin 2
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10
|
OMIM ClinVar |
PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 PMID:8636380 PMID:9667398 PMID:11921414 PMID:12610512 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20034470 PMID:20133622 PMID:20226046 PMID:20938745 PMID:20948967 PMID:21592955 PMID:24097065 PMID:24411943 PMID:24770419 PMID:25423173 PMID:25542748 PMID:25741868 PMID:25755231 PMID:25781672 PMID:26101329 PMID:26467025 PMID:27634015 PMID:27635400 PMID:27659712 PMID:28478482 PMID:28492532 PMID:29758564 PMID:30456822 PMID:30977832 PMID:32656923 PMID:32916194 PMID:33206859 PMID:33409956 PMID:33953728 PMID:34174481 PMID:34789499 More...
|
|
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
|
|
G
|
Th
|
tyrosine hydroxylase
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10
|
ClinVar |
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30456822 PMID:33206859 PMID:33953728 More...
|
|
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
|
|
|
G
|
Blk
|
BLK proto-oncogene, Src family tyrosine kinase
|
|
ISO
|
ClinVar Annotator: match by term: BLK-related condition | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11
|
OMIM ClinVar |
PMID:18204098 PMID:18414213 PMID:19667185 PMID:24023612 PMID:24033266 PMID:25741868 PMID:27634015 PMID:27913849 PMID:28095440 PMID:28492532 PMID:30191644 PMID:31101814 PMID:31670388 PMID:31683055 PMID:32041611 PMID:32313195 PMID:33116287 More...
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|
NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
|
|
G
|
Fam167a
|
family with sequence similarity 167, member A
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11
|
ClinVar |
PMID:19667185 |
|
NCBI chr15:37,685,221...37,715,472
Ensembl chr15:37,700,919...37,715,469
|
|
|
G
|
Abcc8
|
ATP binding cassette subfamily C member 8
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 12
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
|
|
|
G
|
Abcc8
|
ATP binding cassette subfamily C member 8
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13
|
ClinVar |
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 PMID:29893194 PMID:32935446 More...
|
|
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
|
|
G
|
Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
|
|
ISO
|
ClinVar Annotator: match by term: MODY, TYPE 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13
|
OMIM ClinVar |
PMID:2270156 PMID:2462236 PMID:8897013 PMID:9867219 PMID:10338089 PMID:10559219 PMID:11318841 PMID:11585851 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15504982 PMID:15562009 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15784703 PMID:15797964 PMID:15855351 PMID:15998776 PMID:16357843 PMID:16416420 PMID:16455067 PMID:16670688 PMID:17021801 PMID:17257281 PMID:17296510 PMID:17316607 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17490422 PMID:17673911 PMID:17823772 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:20685672 PMID:21054355 PMID:21115269 PMID:21119644 PMID:21210267 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22831748 PMID:22958899 PMID:23275527 PMID:23345197 PMID:23667671 PMID:23798684 PMID:24401662 PMID:24622368 PMID:24698822 PMID:25247988 PMID:25555642 PMID:25637631 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26509005 PMID:26545876 PMID:26590798 PMID:26740944 PMID:27033559 PMID:27118464 PMID:27908292 PMID:28123437 PMID:28347637 PMID:28352326 PMID:28492532 PMID:28587604 PMID:28925365 PMID:29216354 PMID:29893194 PMID:30026763 PMID:30297969 PMID:30377186 PMID:31291970 PMID:31464105 PMID:32027066 PMID:32041611 PMID:32101525 PMID:32746448 PMID:32893419 PMID:32935446 PMID:33324081 PMID:33538814 PMID:33611546 PMID:33853507 PMID:34737607 PMID:35114785 PMID:35402560 PMID:35612844 PMID:37664823 More...
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
|
|
|
G
|
Appl1
|
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
|
|
ISO
|
ClinVar Annotator: match by term: APPL1-related condition | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14
|
OMIM ClinVar |
PMID:25741868 PMID:26073777 PMID:28492532 PMID:31264968 |
|
NCBI chr16:2,125,234...2,173,457
Ensembl chr16:2,121,255...2,166,692
|
|
G
|
Asb14
|
ankyrin repeat and SOCS box-containing 14
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:2,095,567...2,123,259
Ensembl chr16:2,095,644...2,115,135
|
|
|
G
|
Cars2
|
cysteinyl-tRNA synthetase 2, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
|
|
G
|
Gck
|
glucokinase
|
|
ISO ISS
|
ClinVar Annotator: match by term: MODY glucokinase-related | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 OMIM:125851 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:1303265 PMID:1349989 PMID:1354782 PMID:1360036 PMID:1397713 PMID:1464666 PMID:1502186 PMID:1545870 PMID:1570017 PMID:2555564 PMID:3573714 PMID:7542040 PMID:7553875 PMID:7555485 PMID:7958490 PMID:8068341 PMID:8071309 PMID:8094163 PMID:8094164 PMID:8096296 PMID:8132752 PMID:8168652 PMID:8314448 PMID:8325892 PMID:8349034 PMID:8376578 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8495817 PMID:8897004 PMID:8932999 PMID:9049484 PMID:9078243 PMID:9472859 PMID:9536098 PMID:9662401 PMID:9713013 PMID:9736233 PMID:9867845 PMID:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10694920 PMID:10753050 PMID:10754480 PMID:11079754 PMID:11106831 PMID:11315828 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11393552 PMID:11508276 PMID:11553210 PMID:11692182 PMID:11772903 PMID:11942313 PMID:12050210 PMID:12442280 PMID:12627330 PMID:12941786 PMID:12955723 PMID:14517946 PMID:14517956 PMID:14578306 PMID:15102714 PMID:15305805 PMID:15448103 PMID:15580558 PMID:15657605 PMID:15667334 PMID:15677479 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16173921 PMID:16199547 PMID:16378108 PMID:16444761 PMID:16502298 PMID:16602010 PMID:16632067 PMID:16731834 PMID:16938872 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17082186 PMID:17099250 PMID:17186219 PMID:17204055 PMID:17230658 PMID:17353190 PMID:17389332 PMID:17573900 PMID:17576681 PMID:17937063 PMID:17976205 PMID:18056790 PMID:18248649 PMID:18271687 PMID:18298419 PMID:18322640 PMID:18370929 PMID:18382660 PMID:18397317 PMID:18399931 PMID:18407139 PMID:18411240 PMID:18414213 PMID:18450771 PMID:18481947 PMID:19002431 PMID:19069349 PMID:19187021 PMID:19309449 PMID:19339519 PMID:19358091 PMID:19410318 PMID:19564454 PMID:19790256 PMID:19903754 PMID:20005544 PMID:20132997 PMID:20301620 PMID:20337973 PMID:20458967 PMID:20979768 PMID:21104275 PMID:21115832 PMID:21348868 PMID:21395678 PMID:21420961 PMID:21437567 PMID:21518409 PMID:21521320 PMID:21569204 PMID:21604084 PMID:21696527 PMID:21720051 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22035297 PMID:22060211 PMID:22101819 PMID:22289546 PMID:22291974 PMID:22298776 PMID:22332836 PMID:22335469 PMID:22341299 PMID:22389783 PMID:22493702 PMID:22525692 PMID:22540858 PMID:22611063 PMID:22761713 PMID:22773699 PMID:22808921 PMID:22820548 PMID:23009393 PMID:23085272 PMID:23155715 PMID:23295287 PMID:23295292 PMID:23306198 PMID:23433541 PMID:23476789 PMID:23624530 PMID:23771172 PMID:23771925 PMID:23778137 PMID:23843579 PMID:23890519 PMID:24001579 PMID:24033266 PMID:24097065 PMID:24323243 PMID:24411943 PMID:24430320 PMID:24518839 PMID:24549415 PMID:24568320 PMID:24578721 PMID:24660669 PMID:24677712 PMID:24723372 PMID:24728127 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25082184 PMID:25174781 PMID:25182307 PMID:25203462 PMID:25306193 PMID:25414397 PMID:25494859 PMID:25525159 PMID:25555642 PMID:25723349 PMID:25741868 PMID:25755231 PMID:25850297 PMID:25921421 PMID:25935773 PMID:26059258 PMID:26123671 PMID:26208450 PMID:26226118 PMID:26287533 PMID:26467025 PMID:26552609 PMID:26587058 PMID:26641800 PMID:26669242 PMID:27059371 PMID:27080136 PMID:27106716 PMID:27167055 PMID:27185633 PMID:27256595 PMID:27256596 PMID:27269892 PMID:27271189 PMID:27634015 PMID:27913849 PMID:27935851 PMID:28012402 PMID:28095440 PMID:28170077 PMID:28323911 PMID:28331372 PMID:28371533 PMID:28492532 PMID:28555465 PMID:28575730 PMID:28663157 PMID:28701371 PMID:28726111 PMID:28842611 PMID:29056535 PMID:29207974 PMID:29329106 PMID:29412391 PMID:29417725 PMID:29424410 PMID:29510678 PMID:29704611 PMID:29758564 PMID:29777474 PMID:29792621 PMID:29927023 PMID:30053375 PMID:30086370 PMID:30105470 PMID:30155490 PMID:30191644 PMID:30245511 PMID:30257192 PMID:30259503 PMID:30386132 PMID:30447144 PMID:30504769 PMID:30590153 PMID:30592380 PMID:30608898 PMID:30656436 PMID:30663027 PMID:30977832 PMID:31063852 PMID:31197960 PMID:31216263 PMID:31264968 PMID:31416898 PMID:31529753 PMID:31576961 PMID:31595705 PMID:31604004 PMID:31638168 PMID:31704690 PMID:31956423 PMID:31957151 PMID:31968686 PMID:32017842 PMID:32041611 PMID:32074423 PMID:32086287 PMID:32375122 PMID:32468610 PMID:32531870 PMID:32533152 PMID:32741144 PMID:32792356 PMID:32906206 PMID:33046911 PMID:33072637 PMID:33129248 PMID:33242514 PMID:33294763 PMID:33324081 PMID:33477506 PMID:33565752 PMID:33852230 PMID:34023340 PMID:34085361 PMID:34108472 PMID:34221822 PMID:34373539 PMID:34393998 PMID:34406393 PMID:34421822 PMID:34440516 PMID:34496959 PMID:34532767 PMID:34556497 PMID:34662886 PMID:34686905 PMID:34746319 PMID:34789499 PMID:34951656 PMID:35069449 PMID:35112188 PMID:35176401 PMID:35229243 PMID:35472491 PMID:35592779 PMID:35737141 PMID:35770790 PMID:36178555 PMID:36208030 PMID:36208343 PMID:36227502 PMID:36257325 PMID:36400171 PMID:36418577 PMID:36504295 PMID:36613572 PMID:36836406 PMID:37008541 PMID:37101203 PMID:38054414 PMID:38627865 More...
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|
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
|
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G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2
|
ClinVar |
|
|
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
|
|
G
|
Ucp2
|
uncoupling protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2
|
ClinVar |
|
|
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611
|
|
|
G
|
C12h12orf43
|
similar to human chromosome 12 open reading frame 43
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3
|
ClinVar |
PMID:9075818 PMID:9392505 PMID:9562352 PMID:9626139 PMID:10333057 PMID:10482964 PMID:10588527 PMID:11942313 PMID:12488962 PMID:12530534 PMID:22432108 PMID:23348805 PMID:24728327 PMID:25057215 PMID:25414397 PMID:25741868 PMID:26287533 PMID:26467025 PMID:28012402 PMID:28170077 PMID:28410371 PMID:28492532 PMID:31517624 PMID:32238361 PMID:32395877 PMID:32910913 PMID:33046911 PMID:35299962 PMID:35328643 PMID:35472491 PMID:35673428 PMID:36257325 More...
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|
NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
|
|
G
|
Gck
|
glucokinase
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3
|
ClinVar |
PMID:1464666 PMID:1502186 PMID:8068341 PMID:8446612 PMID:9049484 PMID:10525657 PMID:10694920 PMID:17099250 PMID:17573900 PMID:18271687 PMID:19790256 PMID:19903754 PMID:21518409 PMID:22060211 PMID:22611063 PMID:25174781 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28726111 PMID:29329106 PMID:29417725 PMID:29927023 PMID:30259503 PMID:30663027 PMID:32375122 PMID:32741144 PMID:33242514 PMID:33324081 PMID:34440516 PMID:36257325 More...
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|
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
|
|
G
|
Hnf1a
|
HNF1 homeobox A
|
|
ISO ISS
|
ClinVar Annotator: match by term: MODY type 3 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 OMIM:600496 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:2975864 PMID:7842064 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9075819 PMID:9097962 PMID:9112026 PMID:9133564 PMID:9166684 PMID:9287053 PMID:9313763 PMID:9313764 PMID:9392505 PMID:9439666 PMID:9536098 PMID:9562352 PMID:9604876 PMID:9626139 PMID:9727913 PMID:9754819 PMID:10027593 PMID:10027594 PMID:10078571 PMID:10102714 PMID:10333057 PMID:10447526 PMID:10482964 PMID:10581189 PMID:10585442 PMID:10588527 PMID:10634407 PMID:10649494 PMID:10754480 PMID:10852449 PMID:10966642 PMID:11058894 PMID:11162430 PMID:11272211 PMID:11289470 PMID:11296231 PMID:11315828 PMID:11315851 PMID:11393552 PMID:11463573 PMID:11692182 PMID:11719843 PMID:11938027 PMID:11942313 PMID:11978663 PMID:12050210 PMID:12107757 PMID:12355088 PMID:12359128 PMID:12378390 PMID:12442280 PMID:12453420 PMID:12453976 PMID:12488961 PMID:12488962 PMID:12530534 PMID:12547858 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12646418 PMID:12675668 PMID:12788852 PMID:12832318 PMID:12882939 PMID:14598263 PMID:14747304 PMID:15031772 PMID:15114102 PMID:15277395 PMID:15305805 PMID:15387959 PMID:15522234 PMID:15649945 PMID:15657605 PMID:15726414 PMID:15761192 PMID:15841481 PMID:15883474 PMID:15928245 PMID:16046319 PMID:16186275 PMID:16199547 PMID:16223942 PMID:16249556 PMID:16274290 PMID:16496320 PMID:16602010 PMID:16834925 PMID:16917892 PMID:16930618 PMID:16963153 PMID:17033837 PMID:17054605 PMID:17062882 PMID:17116178 PMID:17192490 PMID:17220065 PMID:17407072 PMID:17407387 PMID:17425917 PMID:17440016 PMID:17496355 PMID:17573900 PMID:17576681 PMID:17601994 PMID:17700391 PMID:17924661 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18221440 PMID:18332101 PMID:18414213 PMID:18439552 PMID:18498634 PMID:18513302 PMID:18513305 PMID:18672310 PMID:18811724 PMID:18838325 PMID:19150152 PMID:19169489 PMID:19336507 PMID:19339519 PMID:19672314 PMID:19754856 PMID:19929997 PMID:20031592 PMID:20132997 PMID:20210571 PMID:20393147 PMID:20690076 PMID:20705777 PMID:20981092 PMID:21051477 PMID:21168233 PMID:21170474 PMID:21224407 PMID:21236713 PMID:21395678 PMID:21518407 PMID:21628466 PMID:21648289 PMID:21683639 PMID:21696527 PMID:21761282 PMID:21823540 PMID:22060211 PMID:22341299 PMID:22348187 PMID:22413961 PMID:22432108 PMID:22432796 PMID:22517943 PMID:22802087 PMID:22808921 PMID:23139355 PMID:23274891 PMID:23348805 PMID:23517481 PMID:23548576 PMID:23551881 PMID:23607861 PMID:23610083 PMID:23624530 PMID:23674172 PMID:23771172 PMID:23771925 PMID:23803251 PMID:23869231 PMID:24014008 PMID:24033266 PMID:24041679 PMID:24069322 PMID:24097065 PMID:24323243 PMID:24728327 PMID:24915262 PMID:24933231 PMID:25057215 PMID:25174781 PMID:25306193 PMID:25411618 PMID:25414397 PMID:25483937 PMID:25525159 PMID:25555642 PMID:25575005 PMID:25741868 PMID:25837654 PMID:25887915 PMID:25935773 PMID:26059258 PMID:26110317 PMID:26287533 PMID:26431509 PMID:26467025 PMID:26479152 PMID:26552609 PMID:26817999 PMID:26853433 PMID:26981542 PMID:26997508 PMID:27035118 PMID:27059371 PMID:27080136 PMID:27083284 PMID:27130141 PMID:27148439 PMID:27271189 PMID:27458973 PMID:27486234 PMID:27634015 PMID:27659712 PMID:27899486 PMID:27913849 PMID:28012402 PMID:28105082 PMID:28170077 PMID:28324025 PMID:28395978 PMID:28410371 PMID:28453780 PMID:28492532 PMID:28597946 PMID:28701371 PMID:28862987 PMID:28938416 PMID:29179779 PMID:29207974 PMID:29334895 PMID:29376044 PMID:29417725 PMID:29439679 PMID:29493090 PMID:29666556 PMID:29753610 PMID:29758564 PMID:29844095 PMID:29895593 PMID:29927023 PMID:30121369 PMID:30155490 PMID:30181854 PMID:30191644 PMID:30202817 PMID:30293189 PMID:30455330 PMID:30487145 PMID:30663027 PMID:30814848 PMID:31109344 PMID:31166087 PMID:31216263 PMID:31264968 PMID:31291970 PMID:31333579 PMID:31363388 PMID:31365591 PMID:31385057 PMID:31419515 PMID:31447099 PMID:31483937 PMID:31485449 PMID:31517624 PMID:31566143 PMID:31576961 PMID:31604004 PMID:31638168 PMID:31658956 PMID:31673528 PMID:31754975 PMID:31844173 PMID:31968565 PMID:31968686 PMID:32017842 PMID:32041611 PMID:32238361 PMID:32355288 PMID:32375679 PMID:32395877 PMID:32418360 PMID:32581083 PMID:32741144 PMID:32910913 PMID:32928877 PMID:33046911 PMID:33216280 PMID:33242514 PMID:33245425 PMID:33324081 PMID:33363396 PMID:33459938 PMID:33472798 PMID:33477506 PMID:33538814 PMID:33651556 PMID:33852230 PMID:33889819 PMID:33950347 PMID:34108472 PMID:34161864 PMID:34202200 PMID:34373539 PMID:34440499 PMID:34458657 PMID:34462253 PMID:34496959 PMID:34556497 PMID:34668636 PMID:34741762 PMID:34746319 PMID:34789499 PMID:34803393 PMID:34825797 PMID:35081418 PMID:35089870 PMID:35218126 PMID:35299962 PMID:35328643 PMID:35460704 PMID:35472491 PMID:35535697 PMID:35673428 PMID:35733065 PMID:35846334 PMID:36189138 PMID:36208030 PMID:36208343 PMID:36216889 PMID:36257325 PMID:36504295 PMID:36613572 PMID:36703223 PMID:37396188 More...
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|
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
|
|
G
|
Hnf4a
|
hepatocyte nuclear factor 4, alpha
|
|
ISO
|
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3
|
ClinVar |
PMID:25741868 PMID:36257325 |
|
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
|
|
|
G
|
Pdx1
|
pancreatic and duodenal homeobox 1
|
|
ISO ISS
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4 | ClinVar Annotator: match by term: PDX1-related disorder OMIM:606392
|
CTD OMIM ClinVar MouseDO |
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 PMID:11315851 PMID:11772903 PMID:11914043 PMID:11978663 PMID:12099699 PMID:12618559 PMID:12677187 PMID:12970316 PMID:14764823 PMID:15001545 PMID:15028942 PMID:15111508 PMID:15170499 PMID:15277425 PMID:15754742 PMID:15883474 PMID:16092045 PMID:16741735 PMID:17126328 PMID:17592437 PMID:19228875 PMID:19496967 PMID:19515026 PMID:19817786 PMID:19855005 PMID:20009086 PMID:20621032 PMID:21115832 PMID:21569088 PMID:23331010 PMID:24033266 PMID:24097065 PMID:24464100 PMID:25041077 PMID:25741868 PMID:26058934 PMID:26059258 PMID:26226118 PMID:26287533 PMID:26467025 PMID:27386488 PMID:27420379 PMID:27535533 PMID:27879211 PMID:27879214 PMID:27884173 PMID:27913849 PMID:28095440 PMID:28436541 PMID:28492532 PMID:28609558 PMID:29396371 PMID:29439679 PMID:30191644 PMID:30192042 PMID:30709774 PMID:30930126 PMID:31264968 PMID:31366392 PMID:31595705 PMID:32041611 PMID:33046911 PMID:34135026 PMID:34988346 PMID:36208030 PMID:37652665 More...
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|
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
|
|
|
G
|
Neurod1
|
neuronal differentiation 1
|
|
ISO
|
ClinVar Annotator: match by term: MODY type 6 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6 | ClinVar Annotator: match by term: NEUROD1-related condition CTD Direct Evidence: marker/mechanism
|
ClinVar OMIM CTD |
PMID:10545951 PMID:12639765 PMID:16321269 PMID:18414213 PMID:25041077 PMID:25741868 PMID:27420379 PMID:28095440 PMID:28492532 PMID:28664602 PMID:30191644 PMID:30259503 PMID:34556497 More...
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|
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
|
|
|
G
|
Klf11
|
KLF transcription factor 11
|
|
ISO
|
ClinVar Annotator: match by term: KLF11-related condition | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:15774581 PMID:16199547 PMID:17130512 PMID:18199129 PMID:18593768 PMID:19122346 PMID:19843526 PMID:23589285 PMID:25741868 PMID:28492532 PMID:29758564 PMID:31124255 PMID:32041611 PMID:33046911 PMID:33538814 PMID:34393998 PMID:34458657 PMID:35108381 More...
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NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
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G
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Cel
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carboxyl ester lipase
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ISO
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ClinVar Annotator: match by term: Diabetes-pancreatic exocrine dysfunction syndrome | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 8 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:16369531 PMID:18414213 PMID:21784842 PMID:25160620 PMID:25741868 PMID:27509211 PMID:28492532 PMID:32041611 PMID:32906201 More...
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NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G
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Pax4
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paired box 4
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 9
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CTD OMIM ClinVar |
PMID:9536098 PMID:15509590 PMID:17426099 PMID:17576681 PMID:25741868 PMID:25951767 PMID:28492532 PMID:32801813 PMID:34135026 More...
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NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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G
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Phkg2
|
phosphorylase kinase catalytic subunit gamma 2
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ISO
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ClinVar Annotator: match by term: Mauriac syndrome
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ClinVar |
PMID:27207549 PMID:28492532 |
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NCBI chr 1:191,614,738...191,627,615
Ensembl chr 1:182,184,650...182,197,124
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G
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Ark2c
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arkadia C-terminal like ring finger ubiquitin ligase 2C
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836
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G
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Ark2n
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arkadia (RNF111) N-terminal like PKA signaling regulator 2N
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:71,155,956...71,243,655
Ensembl chr18:71,157,700...71,243,482
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G
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Atp5f1a
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ATP synthase F1 subunit alpha
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:73,567,537...73,575,473
Ensembl chr18:71,292,374...71,300,794
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G
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Epg5
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ectopic P-granules 5 autophagy tethering factor
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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G
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Haus1
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HAUS augmin-like complex, subunit 1
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660
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G
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Hdhd2
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haloacid dehalogenase-like hydrolase domain containing 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:70,488,315...70,526,471
Ensembl chr18:70,474,926...70,526,470
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G
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Ier3ip1-ps1
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immediate early response 3 interacting protein 1, pseudogene 1
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:9536098 PMID:16972080 PMID:17576681 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 PMID:25741868 PMID:28492532 PMID:28711742 PMID:31264968 More...
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NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316
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G
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Katnal2
|
katanin catalytic subunit A1 like 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082
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G
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Loxhd1
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lipoxygenase homology PLAT domains 1
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
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G
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Pias2
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protein inhibitor of activated STAT, 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:72,883,008...72,989,486
Ensembl chr18:70,607,665...70,710,033
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G
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Pstpip2
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proline-serine-threonine phosphatase-interacting protein 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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G
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Setbp1
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SET binding protein 1
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G
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Siglec15
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sialic acid binding Ig-like lectin 15
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:71,506,416...71,521,894
Ensembl chr18:71,505,399...71,521,881
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G
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Skor2
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SKI family transcriptional corepressor 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342
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G
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Slc14a1
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solute carrier family 14 member 1 (Kidd blood group)
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
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G
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Slc14a2
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solute carrier family 14 member 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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Ensembl chr18:71,612,460...71,792,968
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G
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Smad2
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SMAD family member 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:72,124,792...72,193,345
Ensembl chr18:69,850,377...69,912,323
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G
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St8sia5
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ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr18:70,736,395...70,802,537
Ensembl chr18:70,736,602...70,797,789
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G
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Ier3ip1-ps1
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immediate early response 3 interacting protein 1, pseudogene 1
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ISO
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ClinVar Annotator: match by term: IER3IP1-related condition | ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1
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OMIM ClinVar |
PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 PMID:25741868 PMID:28492532 PMID:28711742 PMID:29358611 More...
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NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316
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G
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Yipf5
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Yip1 domain family, member 5
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ISO
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ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2
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OMIM ClinVar |
PMID:25741868 PMID:33164986 |
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NCBI chr18:32,123,814...32,136,947
Ensembl chr18:32,123,842...32,157,642
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G
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Rfx6
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regulatory factor X, 6
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitchell-Riley syndrome | ClinVar Annotator: match by term: RFX6-related condition
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OMIM CTD ClinVar |
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:26559129 PMID:27523286 PMID:28492532 PMID:29026101 More...
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NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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G
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Abcc8
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ATP binding cassette subfamily C member 8
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ISO
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ClinVar Annotator: match by term: Neonatal diabetes mellitus
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ClinVar |
PMID:10204114 PMID:11395395 PMID:15579781 PMID:16199547 PMID:16357843 PMID:16429405 PMID:16613899 PMID:16885549 PMID:17317760 PMID:17378627 PMID:17389331 PMID:17446535 PMID:17668386 PMID:17919176 PMID:17957187 PMID:18025408 PMID:18025464 PMID:18436707 PMID:18596924 PMID:18767144 PMID:18981553 PMID:18988933 PMID:19095654 PMID:20301620 PMID:20685672 PMID:20922570 PMID:20943781 PMID:21109997 PMID:21378087 PMID:21422196 PMID:21674179 PMID:21738553 PMID:21989597 PMID:22451668 PMID:22749773 PMID:22876564 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:24332968 PMID:24401662 PMID:24622368 PMID:24686051 PMID:25323548 PMID:25741868 PMID:25765446 PMID:26208381 PMID:26379717 PMID:26467025 PMID:26740944 PMID:27538677 PMID:27908292 PMID:28270372 PMID:28442472 PMID:28492532 PMID:29644095 PMID:30386300 PMID:31208162 PMID:31216263 PMID:32027066 PMID:32202736 PMID:32376986 PMID:32418263 PMID:32792356 PMID:32893419 PMID:32928245 PMID:33013711 PMID:33046911 PMID:34462253 PMID:34566892 PMID:34927408 PMID:35475025 PMID:36034573 PMID:38095268 PMID:38513803 More...
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NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
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Gck
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glucokinase
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ISO
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ClinVar Annotator: match by term: Neonatal diabetes mellitus
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ClinVar |
PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33129248 More...
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NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
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G
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Ins1
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insulin 1
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ISO
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ClinVar Annotator: match by term: Neonatal diabetes mellitus
|
ClinVar |
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20938745 PMID:20948967 PMID:21723250 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28492532 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32916194 PMID:32994272 PMID:34593315 More...
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NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
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Ins2
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insulin 2
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ISS ISO
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ClinVar Annotator: match by term: Neonatal diabetes mellitus
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MouseDO ClinVar |
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20938745 PMID:20948967 PMID:21723250 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28492532 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32916194 PMID:32994272 PMID:34593315 More...
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NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Kcnj11
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potassium inwardly-rectifying channel, subfamily J, member 11
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ISO
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ClinVar Annotator: match by term: Neonatal diabetes mellitus
|
ClinVar |
PMID:2270156 PMID:2462236 PMID:8897013 PMID:9831713 PMID:10049691 PMID:10338089 PMID:12213829 PMID:12524280 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15448107 PMID:15504982 PMID:15531505 PMID:15561897 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15838686 PMID:16123337 PMID:16205880 PMID:16268330 PMID:16416420 PMID:16609879 PMID:16636122 PMID:16670688 PMID:16731833 PMID:16731837 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17296510 PMID:17327377 PMID:17446535 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17673911 PMID:17901525 PMID:18414213 PMID:18436707 PMID:18662362 PMID:18767144 PMID:19065048 PMID:20220270 PMID:20301620 PMID:20466780 PMID:21352428 PMID:22471336 PMID:22701567 PMID:22749773 PMID:22768671 PMID:23667671 PMID:24622368 PMID:25308342 PMID:25555642 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26509005 PMID:26839896 PMID:26958039 PMID:27033559 PMID:27681997 PMID:28347637 PMID:28480665 PMID:28492532 PMID:28587604 PMID:28925365 PMID:31291970 PMID:32101525 PMID:32418263 PMID:32792356 PMID:32893419 PMID:33409956 PMID:33538814 PMID:33816067 PMID:33987715 PMID:34566892 PMID:35114785 PMID:35612844 PMID:37664823 More...
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Pdx1
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pancreatic and duodenal homeobox 1
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ISO
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ClinVar Annotator: match by term: Neonatal diabetes mellitus
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G
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Th
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tyrosine hydroxylase
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ISO
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ClinVar Annotator: match by term: Neonatal diabetes mellitus
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ClinVar |
PMID:25741868 PMID:27635400 |
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NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G
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Glis3
|
GLIS family zinc finger 3
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ISO ISS
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ClinVar Annotator: match by term: GLIS3-related condition | ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism OMIM:610199 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 PMID:24033266 PMID:25741868 PMID:26259131 PMID:26893459 PMID:27899417 PMID:28253873 PMID:28444304 PMID:28492532 PMID:29146476 PMID:29992946 PMID:31415576 PMID:32425884 PMID:32693112 PMID:35394098 More...
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NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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G
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Mia3
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MIA SH3 domain ER export factor 3
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ISO
|
ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes
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OMIM ClinVar |
PMID:25741868 |
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NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
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G
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Ptf1a
|
pancreas associated transcription factor 1a
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ISO
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ClinVar Annotator: match by term: Congenital absence of insulin-producing beta cells with diabetes mellitus
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ClinVar |
PMID:18591390 PMID:25741868 PMID:28492532 |
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NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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G
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Acadvl
|
acyl-CoA dehydrogenase, very long chain
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ISO
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ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
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ClinVar |
PMID:25741868 |
|
NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075
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G
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Dlg4
|
discs large MAGUK scaffold protein 4
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ISO
|
ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153
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G
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Gata6
|
GATA binding protein 6
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ISO
|
ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
|
OMIM ClinVar |
PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 PMID:23223019 PMID:24310933 PMID:24385578 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28518168 PMID:28659821 PMID:31006513 PMID:31271559 PMID:32461654 More...
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|
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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G
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Alpg
|
alkaline phosphatase, germ cell
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
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G
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Alpi
|
alkaline phosphatase, intestinal
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:87,773,411...87,776,877
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G
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Alpp
|
alkaline phosphatase, placental
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:87,765,860...87,768,606
|
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G
|
Armc9
|
armadillo repeat containing 9
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
|
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G
|
Atg16l1
|
autophagy related 16-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
|
|
G
|
B3gnt7
|
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:94,404,197...94,408,148
Ensembl chr 9:86,956,220...86,960,170
|
|
G
|
C9h2orf72
|
similar to human chromosome 2 open reading frame 72
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
|
|
G
|
Cab39
|
calcium binding protein 39
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
|
|
G
|
Chrnd
|
cholinergic receptor nicotinic delta subunit
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
|
|
G
|
Chrng
|
cholinergic receptor nicotinic gamma subunit
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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|
G
|
Cops7b
|
COP9 signalosome subunit 7B
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
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|
G
|
Ctr9
|
CTR9 homolog, Paf1/RNA polymerase II complex component
|
|
ISO
|
ClinVar Annotator: match by term: Predisposition to Wilms tumor
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:165,137,215...165,167,303
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|
G
|
Dgkd
|
diacylglycerol kinase, delta
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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|
G
|
Dis3
|
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
|
|
G
|
Dis3l2
|
DIS3-like 3'-5' exoribonuclease 2
|
|
ISO ISS
|
ClinVar Annotator: match by term: DIS3L2-related condition | ClinVar Annotator: match by term: Perlman syndrome | ClinVar Annotator: match by term: Predisposition to Wilms tumor OMIM:267000 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:35957908 PMID:35980532 PMID:36451132 More...
|
|
NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
|
|
G
|
Dnajb3
|
DnaJ heat shock protein family (Hsp40) member B3
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560
|
|
G
|
Ecel1
|
endothelin converting enzyme-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
|
|
G
|
Efhd1
|
EF-hand domain family, member D1
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
|
|
G
|
Eif4e2
|
eukaryotic translation initiation factor 4E family member 2
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:95,333,439...95,362,366
Ensembl chr 9:87,878,085...87,914,482
|
|
G
|
Gigyf2
|
GRB10 interacting GYF protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
|
|
G
|
Gpr55
|
G protein-coupled receptor 55
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:94,037,748...94,081,426
Ensembl chr 9:86,590,885...86,640,613
|
|
G
|
Hjurp
|
Holliday junction recognition protein
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
|
|
G
|
Htr2b
|
5-hydroxytryptamine receptor 2B
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:94,184,442...94,206,851
Ensembl chr 9:86,742,102...86,755,108
|
|
G
|
Itm2c
|
integral membrane protein 2C
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
|
|
G
|
Kcnj13
|
potassium inwardly-rectifying channel, subfamily J, member 13
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
|
|
G
|
Mroh2a
|
maestro heat-like repeat family member 2A
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
|
|
G
|
Ncl
|
nucleolin
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
|
|
G
|
Neu2
|
neuraminidase 2
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355
|
|
G
|
Ngef
|
neuronal guanine nucleotide exchange factor
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
|
|
G
|
Nmur1
|
neuromedin U receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:94,480,002...94,486,147
Ensembl chr 9:87,033,279...87,036,684
|
|
G
|
Nppc
|
natriuretic peptide C
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
|
|
G
|
Nynrin
|
NYN domain and retroviral integrase containing
|
|
ISO
|
ClinVar Annotator: match by term: Predisposition to Wilms tumor
|
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
|
|
G
|
Pde6d
|
phosphodiesterase 6D
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969
|
|
G
|
Prss56
|
serine protease 56
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
|
|
G
|
Psmd1
|
proteasome 26S subunit, non-ATPase 1
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
|
|
G
|
Ptma
|
prothymosin alpha
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
|
|
G
|
Sag
|
S-antigen visual arrestin
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
|
|
G
|
Snorc
|
secondary ossification center associated regulator of chondrocyte maturation
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:95,574,943...95,593,394
Ensembl chr 9:88,140,419...88,145,891
|
|
G
|
Snord20
|
small nucleolar RNA, C/D box 20
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
|
|
G
|
Snord82
|
small nucleolar RNA, C/D box 82
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
|
|
G
|
Sp100
|
SP100 nuclear antigen
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
|
|
G
|
Sp110
|
SP110 nuclear body protein
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
|
|
G
|
Sp140
|
SP140 nuclear body protein
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
|
|
G
|
Spata3
|
spermatogenesis associated 3
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
|
|
G
|
Spp2
|
secreted phosphoprotein 2
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
|
|
G
|
Tex44
|
testis expressed 44
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
|
|
G
|
Trpm8
|
transient receptor potential cation channel, subfamily M, member 8
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:96,315,567...96,437,959
Ensembl chr 9:88,903,880...88,988,552
|
|
G
|
Ugt1a1
|
UDP glucuronosyltransferase family 1 member A1
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465
|
|
G
|
Ugt1a2
|
UDP glucuronosyltransferase 1 family, polypeptide A2
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:96,239,019...96,256,264
Ensembl chr 9:88,713,184...88,808,465
|
|
G
|
Ugt1a3
|
UDP glycosyltransferase 1 family, polypeptide A3
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
|
|
G
|
Ugt1a5
|
UDP glucuronosyltransferase family 1 member A5
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
|
|
G
|
Ugt1a6
|
UDP glucuronosyltransferase family 1 member A6
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:88,713,184...88,808,465
|
|
G
|
Ugt1a9
|
UDP glucuronosyltransferase family 1 member A9
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:88,713,184...88,808,465
|
|
G
|
Usp40
|
ubiquitin specific peptidase 40
|
|
ISO
|
ClinVar Annotator: match by term: Perlman syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914
|
|
|
G
|
Abcc8
|
ATP binding cassette subfamily C member 8
|
|
ISO
|
ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
|
ClinVar |
PMID:8650576 PMID:8923011 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10204114 PMID:10338089 PMID:10426386 PMID:10685980 PMID:10857971 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12166651 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14692646 PMID:14764815 PMID:15111507 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15842514 PMID:15855351 PMID:16186397 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16455067 PMID:16613899 PMID:16885549 PMID:17257281 PMID:17317760 PMID:17378627 PMID:17389331 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18025464 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18497752 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18981553 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:20301549 PMID:20301620 PMID:20424228 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21378087 PMID:21422196 PMID:21544516 PMID:21674179 PMID:21738553 PMID:21814221 PMID:21989597 PMID:21992908 PMID:22082043 PMID:22151254 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22533711 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22815030 PMID:22902787 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:24033266 PMID:24080777 PMID:24332968 PMID:24401662 PMID:24622368 PMID:24645945 PMID:24768178 PMID:24814349 PMID:24825091 PMID:24959012 PMID:25306193 PMID:25518065 PMID:25555642 PMID:25741868 PMID:25765446 PMID:25871929 PMID:25955821 PMID:26180531 PMID:26379717 PMID:26448950 PMID:26467025 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27313609 PMID:27538677 PMID:27677908 PMID:27681997 PMID:27810688 PMID:27849623 PMID:27908292 PMID:27913849 PMID:28346775 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29127764 PMID:29207974 PMID:29216354 PMID:29527407 PMID:29644095 PMID:29751826 PMID:29893194 PMID:30098243 PMID:30191644 PMID:30193751 PMID:30297969 PMID:30352420 PMID:30447144 PMID:30515958 PMID:30977832 PMID:31595705 PMID:31604004 PMID:31690835 PMID:32027066 PMID:32041611 PMID:32333556 PMID:32376986 PMID:32418263 PMID:32640185 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:32935446 PMID:33013711 PMID:33046911 PMID:33185579 PMID:33400071 PMID:33410562 PMID:33565752 PMID:33728157 PMID:34032641 PMID:34171966 PMID:34194474 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34631896 PMID:35402560 PMID:36034573 PMID:36208030 PMID:36407475 More...
|
|
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
|
|
G
|
Gck
|
glucokinase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
|
CTD ClinVar |
PMID:3573714 PMID:7555485 PMID:7958490 PMID:8068341 PMID:8071309 PMID:8132752 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8454109 PMID:9049484 PMID:9536098 PMID:10426385 PMID:10447526 PMID:10525657 PMID:10754480 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11508276 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:15102714 PMID:15305805 PMID:15644838 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16378108 PMID:16602010 PMID:16731834 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17186219 PMID:17573900 PMID:17576681 PMID:18056790 PMID:18248649 PMID:18271687 PMID:18382660 PMID:18397317 PMID:18399931 PMID:18414213 PMID:19790256 PMID:19884385 PMID:20132997 PMID:20301620 PMID:20337973 PMID:21395678 PMID:21437567 PMID:21604084 PMID:21720051 PMID:21831042 PMID:22101819 PMID:22291974 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22611063 PMID:22761713 PMID:22808921 PMID:23476789 PMID:23624530 PMID:23771172 PMID:23778137 PMID:24033266 PMID:24097065 PMID:24518839 PMID:24578721 PMID:24723372 PMID:24728127 PMID:25015100 PMID:25082184 PMID:25306193 PMID:25414397 PMID:25494859 PMID:25555642 PMID:25741868 PMID:25850297 PMID:25935773 PMID:26123671 PMID:26467025 PMID:27080136 PMID:27188453 PMID:27269892 PMID:27634015 PMID:27913849 PMID:28247534 PMID:28323911 PMID:28331372 PMID:28492532 PMID:28726111 PMID:29056535 PMID:29510678 PMID:30191644 PMID:30257192 PMID:30386132 PMID:30504769 PMID:31197960 PMID:31216263 PMID:31529753 PMID:31595705 PMID:31957151 PMID:31968686 PMID:32041611 PMID:32086287 PMID:32375122 PMID:33072637 PMID:33129248 PMID:33294763 PMID:33565752 PMID:34406393 PMID:34496959 PMID:34746319 PMID:34789499 PMID:34951656 PMID:35737141 PMID:36178555 PMID:36257325 PMID:36504295 PMID:37008541 PMID:37101203 More...
|
|
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
|
|
G
|
Ins1
|
insulin 1
|
|
ISO
|
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
|
ClinVar |
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20133622 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21566073 PMID:21592955 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:28492532 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:34584998 PMID:34593315 More...
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|
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
|
Ins2
|
insulin 2
|
|
ISS ISO
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OMIM:606176 ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
|
MouseDO ClinVar |
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20133622 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21566073 PMID:21592955 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24411943 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25755231 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:28492532 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32252216 PMID:32433667 PMID:32656923 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:33409956 PMID:33852861 PMID:34584998 PMID:34593315 More...
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NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
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|
ISO ISS
|
DNA:missense mutations: :multiple ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus OMIM:606176 DNA:missense mutations: :p.V59M, p.C166F, p.R201H (human)
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ClinVar MouseDO RGD |
PMID:1422196 PMID:9831713 PMID:9867219 PMID:10049691 PMID:10559219 PMID:11318841 PMID:11395395 PMID:11585851 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12213829 PMID:12364426 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14692646 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15448107 PMID:15504982 PMID:15531505 PMID:15561897 PMID:15562009 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15784703 PMID:15797964 PMID:15807877 PMID:15838686 PMID:15855351 PMID:15886397 PMID:16123337 PMID:16205880 PMID:16268330 PMID:16357843 PMID:16403845 PMID:16416420 PMID:16455067 PMID:16609879 PMID:16636122 PMID:16670688 PMID:16731833 PMID:16731837 PMID:16885549 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17114887 PMID:17257281 PMID:17296510 PMID:17316607 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17652641 PMID:17673911 PMID:17728498 PMID:17823772 PMID:17901525 PMID:17919178 PMID:17956278 PMID:18073297 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18436707 PMID:18556340 PMID:18662362 PMID:18758683 PMID:18767144 PMID:19065048 PMID:19139106 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19372376 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20220270 PMID:20301620 PMID:20424228 PMID:20466780 PMID:20642364 PMID:20685672 PMID:20686794 PMID:21056492 PMID:21115269 PMID:21119644 PMID:21340152 PMID:21352428 PMID:21422196 PMID:21544516 PMID:21682153 PMID:21812132 PMID:22005014 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22648966 PMID:22701567 PMID:22704848 PMID:22749773 PMID:22768671 PMID:22815030 PMID:22831748 PMID:22958899 PMID:23226037 PMID:23226049 PMID:23275527 PMID:23320570 PMID:23345197 PMID:23652837 PMID:23950723 PMID:24018988 PMID:24068186 PMID:24150202 PMID:24401662 PMID:24421282 PMID:24622368 PMID:24686051 PMID:24698822 PMID:25201519 PMID:25247988 PMID:25308342 PMID:25555642 PMID:25637631 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26388896 PMID:26448950 PMID:26467025 PMID:26590798 PMID:26740944 PMID:26839896 PMID:26958039 PMID:27118464 PMID:27173951 PMID:27181376 PMID:27681997 PMID:27691052 PMID:27908292 PMID:28083968 PMID:28123437 PMID:28262438 PMID:28270372 PMID:28352326 PMID:28442472 PMID:28480665 PMID:28492532 PMID:29361385 PMID:29893194 PMID:30286572 PMID:30377186 PMID:30663027 PMID:31218401 PMID:31291970 PMID:31464105 PMID:32027066 PMID:32041611 PMID:32279225 PMID:32418263 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33046911 PMID:33324081 PMID:33409956 PMID:33502061 PMID:33611546 PMID:33762279 PMID:33816067 PMID:33853507 PMID:33987715 PMID:34566892 PMID:36208030 PMID:36873092 PMID:15115830 PMID:16670688 More...
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RGD:11067932, RGD:12743642 |
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Pdx1
|
pancreatic and duodenal homeobox 1
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ISO
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ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
|
ClinVar |
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
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NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G
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Ptf1a
|
pancreas associated transcription factor 1a
|
|
ISO
|
ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
|
ClinVar |
PMID:18591390 PMID:25741868 PMID:28492532 |
|
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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|
|
G
|
Gck
|
glucokinase
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|
ISO
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ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1
|
OMIM ClinVar |
PMID:1502186 PMID:2555564 PMID:7553875 PMID:8325892 PMID:8446612 PMID:8495817 PMID:9049484 PMID:9867845 PMID:10426385 PMID:10525657 PMID:10753050 PMID:11372010 PMID:11508276 PMID:11553210 PMID:11692182 PMID:11942313 PMID:12627330 PMID:14517956 PMID:14578306 PMID:15448103 PMID:15580558 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16965331 PMID:17079173 PMID:17204055 PMID:17573900 PMID:17937063 PMID:18382660 PMID:18399931 PMID:18411240 PMID:19069349 PMID:19309449 PMID:19564454 PMID:19790256 PMID:20301620 PMID:20337973 PMID:21348868 PMID:21521320 PMID:21569204 PMID:21720051 PMID:22060211 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22611063 PMID:23295292 PMID:23771172 PMID:23771925 PMID:24323243 PMID:24430320 PMID:24549415 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25741868 PMID:26467025 PMID:27080136 PMID:27256595 PMID:27269892 PMID:28012402 PMID:28170077 PMID:28492532 PMID:28726111 PMID:28842611 PMID:29056535 PMID:29510678 PMID:29927023 PMID:30155490 PMID:30245511 PMID:30257192 PMID:30259503 PMID:30592380 PMID:30656436 PMID:31197960 PMID:31216263 PMID:31576961 PMID:31638168 PMID:31957151 PMID:32375122 PMID:32533152 PMID:32741144 PMID:32792356 PMID:33046911 PMID:33129248 PMID:33852230 PMID:34108472 PMID:34393998 PMID:34556497 PMID:34686905 PMID:34746319 PMID:35737141 PMID:36227502 PMID:36257325 PMID:38054414 More...
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NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
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G
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Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
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|
ISO
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ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1
|
ClinVar |
PMID:15580558 PMID:15718250 PMID:25741868 PMID:26448950 |
|
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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|
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G
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Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
|
|
ISO
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ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2
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OMIM ClinVar |
PMID:9831713 PMID:10049691 PMID:10559219 PMID:11872696 PMID:12213829 PMID:12475776 PMID:12524280 PMID:14715863 PMID:14871556 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15448107 PMID:15531505 PMID:15561897 PMID:15562009 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15807877 PMID:15838686 PMID:15855351 PMID:15998776 PMID:16123337 PMID:16205880 PMID:16268330 PMID:16357843 PMID:16416420 PMID:16609879 PMID:16636122 PMID:16670688 PMID:16731833 PMID:16731837 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17257281 PMID:17296510 PMID:17327377 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17652641 PMID:17673911 PMID:17728498 PMID:17901525 PMID:18073297 PMID:18414213 PMID:18436707 PMID:18559200 PMID:18662362 PMID:18767144 PMID:19065048 PMID:19139106 PMID:20022885 PMID:20220270 PMID:20301620 PMID:20466780 PMID:21340152 PMID:21352428 PMID:22512215 PMID:22619292 PMID:22701567 PMID:22749773 PMID:22768671 PMID:22831748 PMID:22958899 PMID:23275527 PMID:23345197 PMID:23462667 PMID:23798684 PMID:24401662 PMID:24421282 PMID:24622368 PMID:24686051 PMID:25247988 PMID:25308342 PMID:25555642 PMID:25741868 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:26590798 PMID:26839896 PMID:26958039 PMID:27681997 PMID:27908292 PMID:28123437 PMID:28350539 PMID:28352326 PMID:28480665 PMID:28492532 PMID:28766502 PMID:30286572 PMID:32027066 PMID:32418263 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33324081 PMID:33409956 PMID:33611546 PMID:33816067 PMID:33852230 PMID:33853507 PMID:33987715 PMID:34566892 More...
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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|
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G
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Abcc8
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ATP binding cassette subfamily C member 8
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3
|
OMIM ClinVar |
PMID:7716548 PMID:7908292 PMID:8923011 PMID:9536098 PMID:9618169 PMID:9648840 PMID:10204114 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10685980 PMID:10720932 PMID:10857971 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:16199547 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:17236890 PMID:17378627 PMID:17446535 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19475716 PMID:19766903 PMID:20301549 PMID:20301620 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:21142918 PMID:21321069 PMID:21378087 PMID:21536946 PMID:21716120 PMID:21814221 PMID:21851374 PMID:21989597 PMID:22031516 PMID:22151254 PMID:22210575 PMID:22533711 PMID:22749773 PMID:22802590 PMID:23067144 PMID:23275527 PMID:23345197 PMID:23744072 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25518065 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:26594346 PMID:26740944 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27754802 PMID:27889714 PMID:27908292 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29751826 PMID:30114684 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30447144 PMID:30515958 PMID:30753133 PMID:30873120 PMID:31464105 PMID:31604004 PMID:31821855 PMID:32027066 PMID:32041611 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32893419 PMID:33046911 PMID:33400071 PMID:33410562 PMID:33565752 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34777243 PMID:35029855 PMID:36144251 PMID:36208030 PMID:36339418 PMID:37007940 More...
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NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
|
Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3
|
ClinVar |
PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532 |
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Ins1
|
insulin 1
|
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4
|
ClinVar |
PMID:2196279 PMID:3511099 PMID:3537011 PMID:4019786 PMID:6339950 PMID:6368587 PMID:7242673 PMID:8269791 PMID:8636380 PMID:9667398 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20007936 PMID:20034470 PMID:20226046 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24097065 PMID:24622368 PMID:24770419 PMID:25423173 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28478482 PMID:28492532 PMID:29454299 PMID:29758564 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:33953728 PMID:34584998 PMID:34593315 PMID:34789499 More...
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NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
|
Ins2
|
insulin 2
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4
|
OMIM ClinVar |
PMID:2196279 PMID:3511099 PMID:3537011 PMID:4019786 PMID:6339950 PMID:6368587 PMID:7242673 PMID:8269791 PMID:8636380 PMID:9667398 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20007936 PMID:20034470 PMID:20133622 PMID:20226046 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21592955 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24097065 PMID:24411943 PMID:24622368 PMID:24770419 PMID:25423173 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25755231 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28478482 PMID:28492532 PMID:29454299 PMID:29758564 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32252216 PMID:32433667 PMID:32656923 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:33409956 PMID:33852861 PMID:33953728 PMID:34584998 PMID:34593315 PMID:34789499 More...
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NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Th
|
tyrosine hydroxylase
|
|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4
|
ClinVar |
PMID:25741868 PMID:27635400 PMID:33953728 |
|
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G
|
Ptf1a
|
pancreas associated transcription factor 1a
|
|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 More...
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|
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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G
|
Insr
|
insulin receptor
|
|
ISO
|
ClinVar Annotator: match by term: Mendenhall Syndrome | ClinVar Annotator: match by term: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities | ClinVar Annotator: match by term: Rabson-Mendenhall syndrome
|
OMIM ClinVar |
PMID:2002058 PMID:2040394 PMID:2121734 PMID:2211730 PMID:2233914 PMID:2365819 PMID:2983222 PMID:3721065 PMID:7042734 PMID:7657032 PMID:8257688 PMID:8314008 PMID:8432414 PMID:8900242 PMID:9249867 PMID:9449692 PMID:10084586 PMID:10933564 PMID:11463381 PMID:19135752 PMID:22775283 PMID:23705494 PMID:23969187 PMID:24033266 PMID:25358339 PMID:25741868 PMID:26691667 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:29082893 PMID:30663027 PMID:31989990 PMID:35000900 More...
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NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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G
|
Agt
|
angiotensinogen
|
|
IEP
|
associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:kidney
|
RGD |
PMID:23322513 |
RGD:8549461 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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|
G
|
Calca
|
calcitonin-related polypeptide alpha
|
|
IEP
|
protein:increased expression:penis erectile tissue
|
RGD |
PMID:19152794 |
RGD:2314033 |
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105
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|
G
|
Ccr2
|
C-C motif chemokine receptor 2
|
|
ISO
|
DNA:polymorphism:promoter:-960T>A (rs3918359) (human)
|
RGD |
PMID:18096169 |
RGD:2313557 |
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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|
G
|
Gcg
|
glucagon
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent
|
RGD |
PMID:19654434 |
RGD:2313224 |
NCBI chr 3:67,522,489...67,531,533
Ensembl chr 3:47,113,914...47,122,929
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G
|
Il15
|
interleukin 15
|
|
ISO
|
|
RGD |
PMID:11832994 |
RGD:2313578 |
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820
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G
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Il6
|
interleukin 6
|
|
ISO
|
protein:increased expression:extracellular space (human)
|
RGD |
PMID:19442860 |
RGD:2307180 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G
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Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
|
|
IEP
|
associated with Obesity;protein:decreased expression:hypothalamus
|
RGD |
PMID:18001323 |
RGD:2311538 |
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Mfn2
|
mitofusin 2
|
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IEP
|
protein:increased expression:heart left ventricle (rat)
|
RGD |
PMID:27521417 |
RGD:12910830 |
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
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G
|
Pdx1
|
pancreatic and duodenal homeobox 1
|
|
ISO
|
mRNA, protein:decreased expression:pancreas, pancreatic islet (mouse)
|
RGD |
PMID:17673521 |
RGD:2311230 |
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G
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Ppargc1a
|
PPARG coactivator 1 alpha
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|
IEP
|
protein:decreased expression:testis (rat)
|
RGD |
PMID:24361842 |
RGD:9586046 |
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
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G
|
Ptprn2
|
protein tyrosine phosphatase, receptor type N2
|
|
ISO
|
|
RGD |
PMID:15004204 |
RGD:2311683 |
NCBI chr 6:137,439,572...138,191,575
Ensembl chr 6:137,439,540...138,191,575
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G
|
Relb
|
RELB proto-oncogene, NF-kB subunit
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|
IEP
|
protein:increased expression:pancreatic islet
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RGD |
PMID:10630383 |
RGD:7777162 |
NCBI chr 1:88,385,717...88,413,380
Ensembl chr 1:79,257,725...79,285,507
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|
G
|
RT1-Da
|
RT1 class II, locus Da
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IEP
|
mRNA:increased expression:spleen, lymphocyte
|
RGD |
PMID:3142800 |
RGD:5147592 |
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
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G
|
Sirt3
|
sirtuin 3
|
|
IEP
|
protein:decreased expression:testis
|
RGD |
PMID:24361842 |
RGD:9586046 |
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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|
G
|
Slc4a2
|
solute carrier family 4 member 2
|
|
IEP
|
protein:increased expression:epididymis
|
RGD |
PMID:24105628 |
RGD:9999379 |
NCBI chr 4:11,628,860...11,646,961
Ensembl chr 4:10,736,425...10,752,965
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|
G
|
Slc4a8
|
solute carrier family 4 member 8
|
|
IEP
|
|
RGD |
PMID:24105628 |
RGD:9999379 |
NCBI chr 7:131,861,284...131,939,295
Ensembl chr 7:131,864,102...131,931,051
|
|
G
|
Ucp1
|
uncoupling protein 1
|
|
IEP
|
mRNA, protein:decreased expression:brown fat
|
RGD |
PMID:12659879 |
RGD:2313629 |
NCBI chr19:41,713,350...41,721,421
Ensembl chr19:24,808,783...24,816,852
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|
G
|
Ucp3
|
uncoupling protein 3
|
|
ISO IEP
|
mRNA, protein:decreased expression:brown fat
|
RGD |
PMID:17587402 PMID:12659879 |
RGD:2313514, RGD:2313629 |
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
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|
|
G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
|
ISO
|
associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor
|
RGD |
PMID:22563689 |
RGD:8694466 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
|
ISO
|
protein:increased expression:vitreous humor
|
RGD |
PMID:16364297 |
RGD:8695978 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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|
G
|
Bcor
|
BCL6 co-repressor
|
susceptibility
|
ISO
|
associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR
|
RGD |
PMID:26248552 |
RGD:155631276 |
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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|
G
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Cald1
|
caldesmon 1
|
|
ISO
|
mRNA:increased expression:retina (human)
|
RGD |
PMID:35692390 |
RGD:401851065 |
NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
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|
G
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Calu
|
calumenin
|
|
ISO
|
mRNA:increased expression:retina (human)
|
RGD |
PMID:35692390 |
RGD:401851065 |
NCBI chr 4:57,949,086...57,976,589
Ensembl chr 4:57,948,997...57,976,593
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|
G
|
Cat
|
catalase
|
|
ISO
|
associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:
|
RGD |
PMID:24092995 |
RGD:9068931 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
disease_progression
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human) associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human)
|
RGD |
PMID:23549806 PMID:21850157 |
RGD:8548851, RGD:8549477 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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|
G
|
Ccn1
|
cellular communication network factor 1
|
|
ISO
|
protein:increased expression:vitreous body (human)
|
RGD |
PMID:22160564 |
RGD:329845551 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
|
|
G
|
Col5a2
|
collagen type V alpha 2 chain
|
|
ISO
|
mRNA:increased expression:retina (human)
|
RGD |
PMID:35692390 |
RGD:401851065 |
NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
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|
G
|
Col6a3
|
collagen type VI alpha 3 chain
|
|
ISO
|
mRNA:increased expression:retina (human)
|
RGD |
PMID:35692390 |
RGD:401851065 |
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471
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|
G
|
Coro1c
|
coronin 1C
|
|
ISO
|
mRNA:increased expression:retina (human)
|
RGD |
PMID:35692390 |
RGD:401851065 |
NCBI chr12:42,713,024...42,785,179
Ensembl chr12:42,712,991...42,785,179
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|
G
|
Enpp2
|
ectonucleotide pyrophosphatase/phosphodiesterase 2
|
disease_progression
|
ISO
|
protein:decreased expression:vitreous:
|
RGD |
PMID:22864860 |
RGD:9685437 |
NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:86,202,350...86,324,827
|
|
G
|
Flt1
|
Fms related receptor tyrosine kinase 1
|
|
ISO
|
protein:increased expression:vitreous:
|
RGD |
PMID:22868384 |
RGD:10402118 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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|
G
|
Il6r
|
interleukin 6 receptor
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:17401618 |
RGD:10402814 |
NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536
|
|
G
|
Map3k8
|
mitogen-activated protein kinase kinase kinase 8
|
|
ISO
|
protein:increased activity:serum:
|
RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216
|
|
G
|
Mir23a
|
microRNA 23a
|
|
ISO
|
miRNA:increased expression:blood serum (human)
|
RGD |
PMID:24970617 |
RGD:155882576 |
NCBI chr19:40,859,769...40,859,843
Ensembl chr19:23,954,997...23,955,071
|
|
G
|
Mir29a
|
microRNA 29a
|
|
ISO
|
miRNA:increased expression:vitreous humor (human)
|
RGD |
PMID:24970617 |
RGD:155882576 |
NCBI chr 4:60,617,955...60,618,042
|
|
G
|
Mir320a
|
microRNA 320a
|
|
ISO
|
miRNA:increased expression:blood serum, vitreous humor (human)
|
RGD |
PMID:24970617 |
RGD:155882576 |
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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|
G
|
Mir423
|
microRNA 423
|
|
ISO
|
miRNA:decreased expression:serum
|
RGD |
PMID:31422516 |
RGD:158014897 |
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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|
G
|
Mir93
|
microRNA 93
|
|
ISO
|
miRNA:increased expression:vitreous humor (human)
|
RGD |
PMID:24970617 |
RGD:155882576 |
NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221
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|
G
|
Pdgfb
|
platelet derived growth factor subunit B
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|
ISO
|
protein:increased expression:vitreous:
|
RGD |
PMID:19799585 |
RGD:10449447 |
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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|
G
|
Pparg
|
peroxisome proliferator-activated receptor gamma
|
onset susceptibility
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human) DNA:snp:cds:p.P12A (rs1801282) (human)
|
RGD |
PMID:18541841 PMID:19125195 PMID:23559865 |
RGD:2301854, RGD:8699508, RGD:8552820 |
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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|
G
|
Ptpn1
|
protein tyrosine phosphatase, non-receptor type 1
|
|
ISO
|
protein:increased expression:vitreous humor (human)
|
RGD |
PMID:33627831 |
RGD:401976389 |
NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:156,638,769...156,687,504
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|
G
|
Rbp4
|
retinol binding protein 4
|
disease_progression
|
ISO
|
protein:increased expression:blood serum (human)
|
RGD |
PMID:20233518 |
RGD:329853306 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
|
|
G
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Serpine1
|
serpin family E member 1
|
susceptibility disease_progression
|
ISO
|
associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) protein:increased expression:plasma (human)
|
RGD |
PMID:16416371 PMID:23304115 |
RGD:8699494, RGD:8699497 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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|
G
|
Serpinf1
|
serpin family F member 1
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treatment
|
ISO
|
protein:increased expression:vitreous fluid (human)
|
RGD |
PMID:11723044 PMID:15059706 |
RGD:8554895, RGD:1580135 |
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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|
G
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Slit2
|
slit guidance ligand 2
|
|
ISO
|
associated with eye disease; protein:increased expression:vitreous
|
RGD |
PMID:28973045 |
RGD:243048421 |
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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|
G
|
Srsf6
|
serine and arginine rich splicing factor 6
|
|
ISO
|
DNA:snp:exon:p.P281P (rs2235611) (human)
|
RGD |
PMID:21309690 |
RGD:11039452 |
NCBI chr 3:172,009,072...172,014,395
Ensembl chr 3:151,589,535...151,594,860
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|
G
|
Timm44
|
translocase of inner mitochondrial membrane 44
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|
ISO
|
mRNA:decreased expression:retina
|
RGD |
PMID:22003103 |
RGD:13463597 |
NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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|
G
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Vegfa
|
vascular endothelial growth factor A
|
|
IDA
|
associated with Diabetes Mellitus, Type 2; protein:increased expression:retina
|
RGD |
PMID:16054135 |
RGD:2312348 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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|
|
G
|
Gata4
|
GATA binding protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
|
|
G
|
Hnf1b
|
HNF1 homeobox B
|
|
ISO
|
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9536098 PMID:9703339 PMID:10484768 PMID:10672455 PMID:10720943 PMID:10758154 PMID:10868855 PMID:11085914 PMID:11317673 PMID:11562418 PMID:11845237 PMID:11845238 PMID:11918730 PMID:12148114 PMID:12161522 PMID:12460054 PMID:12478351 PMID:12675839 PMID:14583183 PMID:15001636 PMID:15068978 PMID:15085338 PMID:15168014 PMID:15181075 PMID:15509593 PMID:15649945 PMID:15660195 PMID:15930087 PMID:16133182 PMID:16199547 PMID:16249435 PMID:16371430 PMID:16801329 PMID:16971658 PMID:17116179 PMID:17267738 PMID:17337496 PMID:17440011 PMID:17576681 PMID:17878605 PMID:17924661 PMID:18065799 PMID:18249217 PMID:18528323 PMID:18644064 PMID:19228875 PMID:19346182 PMID:19389850 PMID:19639018 PMID:20155289 PMID:20378641 PMID:20543213 PMID:20603712 PMID:20633866 PMID:21163139 PMID:21380624 PMID:21617276 PMID:21775974 PMID:22034641 PMID:22051731 PMID:22060211 PMID:22114815 PMID:22432796 PMID:22641569 PMID:22706971 PMID:23520208 PMID:23539225 PMID:23926411 PMID:23979948 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24254850 PMID:24382792 PMID:24387224 PMID:24429398 PMID:24476040 PMID:24698406 PMID:24897035 PMID:24961278 PMID:25041077 PMID:25265965 PMID:25367728 PMID:25441779 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25705165 PMID:25741167 PMID:25741868 PMID:25754277 PMID:26024028 PMID:26059258 PMID:26226118 PMID:26319241 PMID:26340261 PMID:26417411 PMID:26467025 PMID:26489027 PMID:26489029 PMID:26669242 PMID:26899772 PMID:27229139 PMID:27234567 PMID:27297286 PMID:27615128 PMID:27657687 PMID:27838256 PMID:27913849 PMID:28215227 PMID:28251383 PMID:28420700 PMID:28453780 PMID:28492532 PMID:28502589 PMID:28593362 PMID:28912863 PMID:29100090 PMID:29207974 PMID:29406598 PMID:29491316 PMID:29764441 PMID:29927023 PMID:30143558 PMID:30191644 PMID:30259503 PMID:30476936 PMID:30481753 PMID:30548481 PMID:30655312 PMID:30663027 PMID:30666461 PMID:30773290 PMID:30791938 PMID:31131422 PMID:31198537 PMID:31291970 PMID:31365591 PMID:31498910 PMID:31595705 PMID:31604004 PMID:31825128 PMID:32041611 PMID:32164334 PMID:32266039 PMID:32708349 PMID:32939031 PMID:33046911 PMID:33259036 PMID:33305128 PMID:33324081 PMID:33434175 PMID:33532864 PMID:33574344 PMID:33663443 PMID:33851123 PMID:34974531 PMID:35474932 PMID:35643372 PMID:35733065 PMID:35846334 PMID:36090499 PMID:36208030 PMID:36522156 PMID:36549658 PMID:36572455 PMID:36613572 PMID:36672242 PMID:36777702 PMID:36793123 More...
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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|
G
|
Park7
|
Parkinsonism associated deglycase
|
|
ISO
|
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
|
ClinVar |
PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15790532 PMID:16997464 PMID:19429112 PMID:22173095 PMID:22428580 PMID:22960331 PMID:22995991 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27294386 PMID:27592010 PMID:28492532 More...
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NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970
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|
G
|
Pax2
|
paired box 2
|
|
ISO
|
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
|
ClinVar |
PMID:27657687 |
|
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
|
|
G
|
Prkag2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
|
|
ISO
|
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
|
ClinVar |
PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28498465 More...
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NCBI chr 4:10,744,695...10,985,939
Ensembl chr 4:10,010,890...10,252,142
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|
G
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Pdgfrb
|
platelet derived growth factor receptor beta
|
|
ISS
|
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MouseDO |
|
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NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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|
|
G
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Slc19a2
|
solute carrier family 19 member 2
|
|
ISO ISS
|
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia OMIM:249270 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10874303 PMID:10978358 PMID:12065289 PMID:12435857 PMID:14994241 PMID:16199547 PMID:17132746 PMID:17331069 PMID:17463047 PMID:18414213 PMID:19643445 PMID:23638917 PMID:23771172 PMID:24355766 PMID:25741868 PMID:25878670 PMID:26467025 PMID:28004468 PMID:28492532 PMID:29450569 PMID:33409956 PMID:33649974 PMID:33816400 More...
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NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
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|
|
G
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Abcc8
|
ATP binding cassette subfamily C member 8
|
|
ISS ISO
|
OMIM:601410 | OMIM:610374 | OMIM:610582 ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
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MouseDO ClinVar |
PMID:1021286 PMID:2198959 PMID:8751851 PMID:8923011 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10685979 PMID:10685980 PMID:10720932 PMID:11226335 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11872696 PMID:11999683 PMID:12169627 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14764815 PMID:15111507 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16885549 PMID:17114887 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:18025408 PMID:18346985 PMID:18414213 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18981553 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:20301620 PMID:20424228 PMID:20573158 PMID:20685672 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21142918 PMID:21378087 PMID:21422196 PMID:21536946 PMID:21674179 PMID:21716120 PMID:21968111 PMID:21978130 PMID:21989597 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22533711 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24332968 PMID:24401662 PMID:24686051 PMID:24937539 PMID:25008049 PMID:25201519 PMID:25323548 PMID:25741868 PMID:25765446 PMID:26092864 PMID:26180531 PMID:26208381 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26740944 PMID:27188453 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27681997 PMID:27682711 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28270372 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28701683 PMID:29216354 PMID:29644095 PMID:29893194 PMID:30186238 PMID:30352420 PMID:30386300 PMID:30395892 PMID:30515958 PMID:31208162 PMID:31216263 PMID:31589614 PMID:31604004 PMID:31727138 PMID:31997554 PMID:32027066 PMID:32170320 PMID:32202736 PMID:32333556 PMID:32418263 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32935446 PMID:33046911 PMID:33185579 PMID:33410562 PMID:33502730 PMID:33565752 PMID:34032641 PMID:34194474 PMID:34253504 PMID:34462253 PMID:34631896 PMID:34764980 PMID:34927408 PMID:35029855 PMID:35333605 PMID:36208030 PMID:37007940 PMID:38095268 PMID:38513803 More...
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NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
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Cel
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carboxyl ester lipase
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ISO
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ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
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ClinVar |
PMID:25741868 PMID:32906201 |
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NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G
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Gck
|
glucokinase
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ISO
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ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
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ClinVar |
PMID:7555485 PMID:8068341 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8454109 PMID:9536098 PMID:10447526 PMID:11315850 PMID:11315851 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16378108 PMID:16963153 PMID:16965331 PMID:17573900 PMID:17576681 PMID:18271687 PMID:19790256 PMID:20132997 PMID:21604084 PMID:22493702 PMID:22611063 PMID:24097065 PMID:24518839 PMID:24578721 PMID:24723372 PMID:24728127 PMID:25015100 PMID:25741868 PMID:25850297 PMID:26467025 PMID:27269892 PMID:27913849 PMID:28492532 PMID:29510678 PMID:30257192 PMID:30386132 PMID:30504769 PMID:31197960 PMID:31529753 PMID:32375122 PMID:33072637 PMID:33129248 PMID:34951656 PMID:37008541 PMID:37101203 More...
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NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
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G
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Glis3
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GLIS family zinc finger 3
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ISO
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ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
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ClinVar |
PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 PMID:29992946 PMID:32693112 PMID:35394098 More...
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NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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G
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Ins1
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insulin 1
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ISO
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ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
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ClinVar |
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20938745 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30456822 PMID:32916194 PMID:33206859 PMID:33953728 More...
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NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
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Ins2
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insulin 2
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ISO
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ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive
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ClinVar |
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20938745 PMID:22572540 PMID:24275212 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30455893 PMID:30456822 PMID:32916194 PMID:33206859 PMID:33953728 PMID:35083481 More...
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NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
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ISO
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ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
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ClinVar |
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15115830 PMID:15292329 PMID:15448107 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16123337 PMID:16455067 PMID:16670688 PMID:16731837 PMID:16885549 PMID:17021801 PMID:17257281 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17823772 PMID:17919178 PMID:18414213 PMID:18758683 PMID:18767144 PMID:19065048 PMID:19139106 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:21056492 PMID:21544516 PMID:21682153 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22648966 PMID:22701567 PMID:22704848 PMID:22768671 PMID:22815030 PMID:24068186 PMID:24150202 PMID:24622368 PMID:25555642 PMID:25678012 PMID:25739471 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26839896 PMID:26958039 PMID:27681997 PMID:28083968 PMID:28492532 PMID:29893194 PMID:32279225 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33816067 PMID:34566892 More...
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Th
|
tyrosine hydroxylase
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ISO
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ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive
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ClinVar |
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:22572540 PMID:24275212 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30455893 PMID:30456822 PMID:33206859 PMID:33953728 PMID:35083481 More...
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NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G
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Zfp57
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zinc finger protein 57
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive
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ClinVar |
PMID:18414213 PMID:18622393 PMID:23748067 PMID:25741868 PMID:28492532 PMID:30315371 PMID:31064016 More...
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NCBI chr20:1,526,565...1,546,480
Ensembl chr20:1,521,323...1,529,846
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|
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G
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Zfp57
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zinc finger protein 57
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 | ClinVar Annotator: match by term: ZFP57-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:18197189 PMID:18414213 PMID:18622393 PMID:23499433 PMID:23748067 PMID:25741868 PMID:28492532 PMID:30315371 PMID:31064016 More...
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NCBI chr20:1,526,565...1,546,480
Ensembl chr20:1,521,323...1,529,846
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G
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Abcc8
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ATP binding cassette subfamily C member 8
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1021286 PMID:3202066 PMID:7716548 PMID:7908292 PMID:8650576 PMID:8923011 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10857971 PMID:10923633 PMID:10993895 PMID:11226335 PMID:11272143 PMID:11395395 PMID:11457841 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12166651 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15580558 PMID:15718250 PMID:15807877 PMID:15842514 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:17236890 PMID:17317760 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:17957187 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18497752 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19475716 PMID:19766903 PMID:19933268 PMID:20215776 PMID:20301549 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21199866 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21674179 PMID:21716120 PMID:21738553 PMID:21814221 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22151254 PMID:22210575 PMID:22308858 PMID:22311976 PMID:22451668 PMID:22533711 PMID:22562119 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22876564 PMID:22902787 PMID:23067144 PMID:23261959 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23563683 PMID:23652837 PMID:23744072 PMID:23798684 PMID:23807917 PMID:23926410 PMID:24033266 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24768178 PMID:24814349 PMID:24825091 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25871929 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26208381 PMID:26221353 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26545620 PMID:26581065 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27681997 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27849623 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28270372 PMID:28328534 PMID:28346775 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28587604 PMID:28663158 PMID:28667717 PMID:28757749 PMID:28791793 PMID:29082728 PMID:29095814 PMID:29127764 PMID:29207974 PMID:29216354 PMID:29527407 PMID:29644095 PMID:29751826 PMID:30098243 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30193751 PMID:30276209 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30753133 PMID:30873120 PMID:30977832 PMID:31002010 PMID:31110826 PMID:31216263 PMID:31218401 PMID:31264968 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31595705 PMID:31604004 PMID:31700171 PMID:31727138 PMID:31821855 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32418263 PMID:32508047 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33007923 PMID:33013711 PMID:33046911 PMID:33187088 PMID:33193079 PMID:33300273 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33565752 PMID:33587123 PMID:33728157 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34304300 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34631896 PMID:34682101 PMID:34741762 PMID:34777243 PMID:34927408 PMID:35029855 PMID:35402560 PMID:36034573 PMID:36144251 PMID:36208030 PMID:36239000 PMID:36339418 PMID:36407475 PMID:36504295 PMID:36626423 PMID:36699461 PMID:36836406 PMID:37007940 PMID:37327085 PMID:38095268 PMID:38513803 More...
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NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
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Kcnj11
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potassium inwardly-rectifying channel, subfamily J, member 11
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2
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ClinVar |
PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Abcc8
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ATP binding cassette subfamily C member 8
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3
|
ClinVar |
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 PMID:29893194 PMID:32935446 More...
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NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
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Kcnj11
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potassium inwardly-rectifying channel, subfamily J, member 11
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3
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CTD ClinVar OMIM |
PMID:1422196 PMID:2270156 PMID:2462236 PMID:8897013 PMID:9867219 PMID:10338089 PMID:10559219 PMID:11318841 PMID:11585851 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12364426 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15504982 PMID:15531505 PMID:15562009 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15784703 PMID:15797964 PMID:15807877 PMID:15838686 PMID:15855351 PMID:15886397 PMID:15998776 PMID:16123337 PMID:16205880 PMID:16357843 PMID:16416420 PMID:16455067 PMID:16609879 PMID:16670688 PMID:16731837 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17114887 PMID:17257281 PMID:17316607 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17673911 PMID:17823772 PMID:17901525 PMID:17956278 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18662362 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19372376 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20220270 PMID:20301620 PMID:20424228 PMID:20466780 PMID:20589481 PMID:20685672 PMID:20686794 PMID:20980454 PMID:21115269 PMID:21119644 PMID:21422196 PMID:21544516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22289434 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22768671 PMID:22831748 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23320570 PMID:23345197 PMID:23667671 PMID:23798684 PMID:23950723 PMID:24018988 PMID:24383515 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24622368 PMID:24686051 PMID:24698822 PMID:25247988 PMID:25308342 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26509005 PMID:26545876 PMID:26590798 PMID:26740944 PMID:26839896 PMID:26958039 PMID:27033559 PMID:27118464 PMID:27173951 PMID:27181376 PMID:27681997 PMID:27691052 PMID:27908292 PMID:28123437 PMID:28347637 PMID:28352326 PMID:28442472 PMID:28480665 PMID:28492532 PMID:28587604 PMID:28925365 PMID:28938416 PMID:29216354 PMID:29893194 PMID:30297969 PMID:30377186 PMID:31291970 PMID:32027066 PMID:32041611 PMID:32101525 PMID:32202736 PMID:32893419 PMID:32935446 PMID:33046911 PMID:33324081 PMID:33502061 PMID:33538814 PMID:33611546 PMID:33762279 PMID:33853507 PMID:33987715 PMID:34465386 PMID:34566892 PMID:34737607 PMID:35114785 PMID:35402560 PMID:35612844 PMID:36208030 PMID:36873092 PMID:37664823 PMID:38366195 More...
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
|
Abcc8
|
ATP binding cassette subfamily C member 8
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18025464 |
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NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
|
Ace
|
angiotensin I converting enzyme
|
disease progression
|
ISO
|
protein:increased activity:serum (human) DNA:deletion:intron:IVS16+1464-1751del (human)
|
RGD |
PMID:1336356 PMID:9025006 |
RGD:7829770, RGD:7829799 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G
|
Ache
|
acetylcholinesterase
|
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ISO
|
|
RGD |
PMID:2658981 |
RGD:2312438 |
NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651
|
|
G
|
Acp1
|
acid phosphatase 1
|
onset
|
ISO
|
|
RGD |
PMID:15586390 PMID:11912546 |
RGD:2313182, RGD:2313186 |
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
|
|
G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
|
ISO
|
|
RGD |
PMID:19640330 |
RGD:2313235 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
|
|
G
|
Adrb1
|
adrenoceptor beta 1
|
|
IEP
|
|
RGD |
PMID:21491159 |
RGD:6893642 |
NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
|
ISO
|
protein:increased expression:renal cortex (mouse) protein:decreased expression:serum (human) DNA:SNP:promoter:-374T>A (human) DNA:SNP, haplotype: :557G>A (p.G82S) (human)
|
RGD |
PMID:18420491 PMID:21738623 PMID:21870072 PMID:16969646 PMID:10553500 |
RGD:2325657, RGD:7243937, RGD:7244183, RGD:8695958, RGD:8695961 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
G
|
Aif1
|
allograft inflammatory factor 1
|
onset
|
IDA ISO
|
DNA:polymorphism:intron:rs2259571 (human)
|
RGD |
PMID:9391121 PMID:18987644 |
RGD:2313043, RGD:2313199 |
NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668
|
|
G
|
Aifm1
|
apoptosis inducing factor, mitochondria associated 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23499715 |
|
NCBI chr X:132,528,107...132,567,237
Ensembl chr X:127,650,226...127,689,256
|
|
G
|
Aldh2
|
aldehyde dehydrogenase 2 family member
|
|
ISO
|
|
RGD |
PMID:12706323 |
RGD:2311151 |
NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
|
|
G
|
Alox15
|
arachidonate 15-lipoxygenase
|
|
ISO
|
|
RGD |
PMID:17940120 |
RGD:5509611 |
NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874
|
|
G
|
Aoc3
|
amine oxidase, copper containing 3
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:12466139 |
RGD:2313825 |
NCBI chr10:86,272,757...86,280,702
|
|
G
|
Apoa1
|
apolipoprotein A1
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:9578960 |
RGD:2313962 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
|
|
G
|
Apoa2
|
apolipoprotein A2
|
|
ISO
|
protein:decreased expression:plasma
|
RGD |
PMID:9578960 |
RGD:2313962 |
NCBI chr13:86,176,767...86,178,819
Ensembl chr13:83,644,470...83,646,355
|
|
G
|
Apob
|
apolipoprotein B
|
|
ISO
|
|
RGD |
PMID:19171731 PMID:1579407 |
RGD:2313980, RGD:2313972 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
|
|
G
|
Apoc3
|
apolipoprotein C3
|
susceptibility
|
ISO IMP
|
DNA:polymorphisms: :multiple
|
RGD |
PMID:1579407 PMID:16505251 PMID:21670290 |
RGD:2313972, RGD:2306765, RGD:7207205 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
|
|
G
|
Apoe
|
apolipoprotein E
|
|
ISO
|
protein:decreased expression:urine (human)
|
GAD RGD |
PMID:15118671 PMID:22678621 |
RGD:1331525, RGD:6903197 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
|
|
G
|
Apoh
|
apolipoprotein H
|
|
ISO
|
|
RGD |
PMID:9472678 |
RGD:2313990 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
|
|
G
|
Apom
|
apolipoprotein M
|
susceptibility
|
ISO
|
DNA:SNP:promoter:g.-778T>C(rs805296)(human)
|
RGD |
PMID:19007767 |
RGD:2314238 |
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
|
|
G
|
Avp
|
arginine vasopressin
|
|
IAGP
|
|
RGD |
PMID:13995944 PMID:5692127 |
RGD:2314661, RGD:632128 |
NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:117,793,457...117,795,425
|
|
G
|
Avpdi
|
arginine vasopressin; diabetes insipidus mutant
|
|
IAGP
|
|
RGD |
PMID:13995944 PMID:5692127 |
RGD:2314661, RGD:632128 |
|
|
G
|
B2m
|
beta-2 microglobulin
|
|
ISO
|
|
RGD |
PMID:11572996 PMID:15446308 |
RGD:2311238, RGD:2311235 |
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
|
|
G
|
Bach2
|
BTB domain and CNC homolog 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18978792 |
|
NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
|
|
G
|
Bank1
|
B-cell scaffold protein with ankyrin repeats 1
|
susceptibility
|
ISO
|
DNA:SNP: :rs3733197(human)
|
RGD |
PMID:24342660 |
RGD:9684973 |
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
|
|
G
|
Bche
|
butyrylcholinesterase
|
onset
|
ISO
|
DNA:polymorphism: :p.A539T (human)
|
RGD |
PMID:17026497 |
RGD:2306779 |
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
|
|
G
|
Bglap
|
bone gamma-carboxyglutamate protein
|
treatment
|
ISO IEP
|
protein:decreased expression:plasma protein:increased expression:serum:
|
RGD |
PMID:21041817 PMID:9850345 PMID:31096652 |
RGD:7207232, RGD:7207419, RGD:598092496 |
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495
|
|
G
|
Bmal2
|
basic helix-loop-helix ARNT like 2
|
|
ISO
|
DNA:SNPs:exon:multiple
|
RGD |
PMID:16893914 |
RGD:2314359 |
NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
|
|
G
|
Btc
|
betacellulin
|
susceptibility
|
ISO
|
DNA:polymorphism:intron:IVS4-4C>T (human)
|
RGD |
PMID:16683131 |
RGD:2306966 |
NCBI chr14:16,992,668...17,031,178
Ensembl chr14:16,707,982...16,747,049
|
|
G
|
C12h12orf43
|
similar to human chromosome 12 open reading frame 43
|
|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus type 1
|
ClinVar |
PMID:10588527 PMID:12488962 PMID:23348805 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31517624 PMID:32238361 PMID:32395877 PMID:35328643 PMID:35673428 More...
|
|
NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
|
|
G
|
C1qtnf6
|
C1q and TNF related 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18978792 |
|
NCBI chr 7:111,958,348...111,964,948
Ensembl chr 7:110,077,878...110,084,412
|
|
G
|
C3
|
complement C3
|
|
ISO
|
|
RGD |
PMID:3253105 |
RGD:2314031 |
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
|
|
G
|
Casp12
|
caspase 12
|
|
IEP ISO
|
protein:increased expression:hippocampus CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:23499715 PMID:15855338 |
RGD:2311451 |
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
|
|
G
|
Casp3
|
caspase 3
|
|
IEP
|
protein:increased activity:hippocampus
|
RGD |
PMID:15855338 |
RGD:2311451 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G
|
Casp8
|
caspase 8
|
|
ISO
|
|
RGD |
PMID:12753807 |
RGD:2311431 |
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
|
|
G
|
Casp9
|
caspase 9
|
|
ISO
|
|
RGD |
PMID:17880769 PMID:14617576 |
RGD:2311245, RGD:2311322 |
Ensembl chr 5:154,109,046...154,126,626
|
|
G
|
Cat
|
catalase
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:15111504 |
|
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
|
|
G
|
Cbl
|
Cbl proto-oncogene
|
|
IEP
|
mRNA:decreased expression:pancreatic lymph node, mast cell (rat)
|
RGD |
PMID:17082646 |
RGD:1598972 |
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
|
|
G
|
Cblb
|
Cbl proto-oncogene B
|
no_association susceptibility
|
ISO IAGP IDA
|
DNA:SNP:exon:rs3772534 (human) DNA:SNPs: :multiple (human) DNA:missense mutations: :multiple (human) DNA:nonsense mutation (rat)
|
RGD |
PMID:17209142 PMID:14961073 PMID:15629882 PMID:18201552 PMID:12118252 PMID:12118252 More...
|
RGD:2314039, RGD:2314041, RGD:2314040, RGD:2314037, RGD:625457, RGD:625457 |
NCBI chr11:62,058,829...62,225,904
Ensembl chr11:48,592,703...48,756,839
|
|
G
|
Ccl11
|
C-C motif chemokine ligand 11
|
|
IEP
|
protein:increased expression:serum
|
RGD |
PMID:23049540 |
RGD:7248415 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
|
|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
onset
|
ISO
|
protein:increased expression:serum mRNA:increased expression:pancreatic islet (mouse)
|
RGD |
PMID:19092169 PMID:11317664 |
RGD:2306983, RGD:8549575 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
|
|
G
|
Ccl20
|
C-C motif chemokine ligand 20
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:21340626 |
|
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
|
|
G
|
Ccl5
|
C-C motif chemokine ligand 5
|
susceptibility
|
ISO
|
DNA:SNPs:rs4251719, rs2306630, rs2107538 (human)
|
RGD |
PMID:16855620 |
RGD:2307102 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
|
|
G
|
Ccr2
|
C-C motif chemokine receptor 2
|
no_association
|
ISO
|
DNA:polymorphism DNA:polymorphism: :p.V64I (human)
|
RGD |
PMID:12770795 PMID:10400139 |
RGD:2313562, RGD:2313564 |
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
|
|
G
|
Ccr5
|
C-C motif chemokine receptor 5
|
no_association
|
ISO IEP
|
protein:decreased expression:blood, mononuclear cell mRNA:increased expression:splenocyte (rat) DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
|
RGD |
PMID:12145160 PMID:15240727 PMID:23773920 |
RGD:2317571, RGD:4890459, RGD:8551818 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
|
|
G
|
Cd14
|
CD14 molecule
|
|
ISO
|
protein:increased expression:monocyte
|
RGD |
PMID:14614560 PMID:10831941 |
RGD:2314173, RGD:2314175 |
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261
|
|
G
|
Cd28
|
Cd28 molecule
|
onset
|
ISO
|
DNA:polymorphism:intron (human) protein:decreased expression:T cell
|
RGD |
PMID:11685455 PMID:9410902 PMID:15504310 |
RGD:2307199, RGD:2307201, RGD:2307197 |
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
|
|
G
|
Cd36
|
CD36 molecule
|
|
ISO
|
protein:increased expression:heart
|
RGD |
PMID:7544802 |
RGD:2307219 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
|
|
G
|
Cd38
|
CD38 molecule
|
disease_progression
|
ISO ISS
|
OMIM:222100
|
MouseDO RGD |
PMID:16459468 PMID:16920929 PMID:12488956 |
RGD:2307230, RGD:2307229, RGD:2307231 |
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
|
|
G
|
Cd40
|
CD40 molecule
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:22505539 |
RGD:6893375 |
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
|
|
G
|
Cd40lg
|
CD40 ligand
|
treatment
|
ISO IMP
|
protein:increased expression:serum
|
RGD |
PMID:16505242 PMID:15448088 PMID:16611325 PMID:12419284 PMID:26716812 |
RGD:2314212, RGD:2314220, RGD:5491182, RGD:8547798, RGD:11344963 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
|
|
G
|
Cd69
|
Cd69 molecule
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19430480 |
|
NCBI chr 4:164,411,485...164,419,403
Ensembl chr 4:162,725,446...162,733,542
|
|
G
|
Cd80
|
Cd80 molecule
|
|
ISO
|
|
RGD |
PMID:19658094 |
RGD:5132624 |
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
|
|
G
|
Cd86
|
CD86 molecule
|
onset
|
ISO
|
human gene in mouse model protein:decreased expression:dendritic cell protein:decreased expression:macrophage,dendritic cell,T cell protein:decreased expression:dendritic cells protein:increased expression:dendritic cell
|
RGD |
PMID:17947667 PMID:16232222 PMID:15356107 PMID:10679081 PMID:18316361 PMID:12742378 More...
|
RGD:4892258, RGD:2313911, RGD:2313917, RGD:2313927, RGD:2313906, RGD:2313920 |
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
|
|
G
|
Cdk4
|
cyclin-dependent kinase 4
|
|
ISO ISS
|
OMIM:222100
|
MouseDO RGD |
PMID:10319860 |
RGD:2314613 |
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
|
|
G
|
Cel
|
carboxyl ester lipase
|
|
ISO
|
protein:increased activity:serum ClinVar Annotator: match by term: Diabetes mellitus type 1
|
ClinVar RGD |
PMID:18414213 PMID:25741868 PMID:10580419 PMID:9536927 |
RGD:2313967, RGD:2313969 |
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
|
|
G
|
Cfb
|
complement factor B
|
|
ISO
|
protein:increased expression:serum DNA:polymorphism
|
RGD |
PMID:3907907 PMID:19000152 |
RGD:2311338, RGD:2311335 |
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
|
|
G
|
Chi3l1
|
chitinase 3 like 1
|
|
ISO
|
protein:increased secretion:serum (human)
|
RGD |
PMID:18957531 |
RGD:4892627 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
|
|
G
|
Chrm2
|
cholinergic receptor, muscarinic 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18603373 |
|
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
|
|
G
|
Clec16a
|
C-type lectin domain containing 16A
|
|
ISO
|
DNA:polymorphism:intron:rs725613 (human) DNA:polymorphism:intron:rs2903692A (human) CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:17632545 PMID:18946483 PMID:18946483 PMID:19221398 |
RGD:2313978, RGD:5491176 |
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
|
|
G
|
Cp
|
ceruloplasmin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20012460 PMID:17603912 |
RGD:2314682 |
NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075
|
|
G
|
Crp
|
C-reactive protein
|
|
ISO
|
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20012460 PMID:22864910 PMID:20012460 |
RGD:6906966, RGD:8547537 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
|
|
G
|
Ctla4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
ISO
|
DNA:SNP:promoter:-1661A>G (human) DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human) DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
|
RGD |
PMID:16671945 PMID:8817351 PMID:18443194 PMID:9259273 |
RGD:2301995, RGD:2301958, RGD:2301974, RGD:1300385 |
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
|
|
G
|
Ctsb
|
cathepsin B
|
susceptibility
|
ISO
|
|
RGD |
PMID:19664906 |
RGD:2315524 |
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
|
|
G
|
Ctsh
|
cathepsin H
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18978792 |
|
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
|
|
G
|
Ctsl
|
cathepsin L
|
susceptibility
|
ISO
|
|
RGD |
PMID:19664906 |
RGD:2315524 |
NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
|
|
G
|
Cxcl10
|
C-X-C motif chemokine ligand 10
|
|
ISO IMP
|
protein:increased expression:serum
|
RGD |
PMID:16148094 PMID:16339582 PMID:19046227 |
RGD:2311363, RGD:2311362, RGD:2311358 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G
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Cxcl12
|
C-X-C motif chemokine ligand 12
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onset no_association
|
ISO
|
DNA:polymorphism:3' utr (human) mRNA:increased expression:bone marrow
|
RGD |
PMID:11334429 PMID:18793419 PMID:12383202 PMID:14679085 PMID:14522095 |
RGD:2306563, RGD:2301942, RGD:2306562, RGD:2306561, RGD:2306560 |
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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|
G
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Cyp27b1
|
cytochrome P450, family 27, subfamily b, polypeptide 1
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susceptibility
|
ISO
|
DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human) DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
|
RGD |
PMID:17223345 PMID:17606874 |
RGD:2307312, RGD:2307311 |
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241
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|
G
|
Cyp2e1
|
cytochrome P450, family 2, subfamily e, polypeptide 1
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|
ISO
|
mRNA:increased expression:leukocyte
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RGD |
PMID:12743671 |
RGD:2313684 |
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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|
G
|
Cyp2r1
|
cytochrome P450, family 2, subfamily r, polypeptide 1
|
susceptibility
|
ISO
|
DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)
|
RGD |
PMID:17607662 |
RGD:2315692 |
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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|
G
|
Ddit3
|
DNA-damage inducible transcript 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23499715 |
|
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201
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|
G
|
Ddx39b
|
DExD-box helicase 39B
|
|
ISO
|
|
RGD |
PMID:11756005 |
RGD:13702905 |
NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996
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|
G
|
Dnmt3b
|
DNA methyltransferase 3 beta
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|
ISO
|
mRNA:increased expression:CD4+ T cell:
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RGD |
PMID:21864931 |
RGD:9589109 |
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
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|
G
|
Dock8
|
dedicator of cytokinesis 8
|
|
IAGP
|
|
RGD |
PMID:26363782 |
RGD:11532657 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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|
G
|
Dock8m1Ztm
|
dedicator of cytokinesis 8;mutant 1, Ztm
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|
IAGP
|
|
RGD |
PMID:26363782 |
RGD:11532657 |
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G
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Dpp4
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dipeptidylpeptidase 4
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|
ISO
|
|
RGD |
PMID:19073764 |
RGD:2313702 |
NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:46,962,243...47,043,901
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|
G
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Dusp1
|
dual specificity phosphatase 1
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|
IEP
|
|
RGD |
PMID:7485483 |
RGD:2298693 |
NCBI chr10:17,184,853...17,187,646
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G
|
E2f1
|
E2F transcription factor 1
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|
ISO ISS
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E2f1/E2f2 double knockout OMIM:222100
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MouseDO RGD |
PMID:15146237 |
RGD:1300306 |
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361
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|
G
|
E2f2
|
E2F transcription factor 2
|
|
ISO
|
E2f1/E2f2 double knockout
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RGD |
PMID:15146237 |
RGD:1300306 |
NCBI chr 5:153,682,789...153,706,087
Ensembl chr 5:148,399,642...148,421,217
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|
G
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Edn1
|
endothelin 1
|
|
ISO
|
protein:increased secretion:plasma (human)
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RGD |
PMID:2198188 |
RGD:4144835 |
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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|
G
|
Egfr
|
epidermal growth factor receptor
|
|
IEP
|
protein:decreased phosphorylation:liver (rat)
|
RGD |
PMID:2833110 |
RGD:5131531 |
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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|
G
|
Eif2ak3
|
eukaryotic translation initiation factor 2 alpha kinase 3
|
|
ISO
|
DNA:polymorphism
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RGD |
PMID:15483661 |
RGD:1601017 |
NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:102,805,510...102,866,911
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|
G
|
Ets1
|
ETS proto-oncogene 1, transcription factor
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|
ISO
|
DNA:polymorphism (human)
|
RGD |
PMID:1982251 PMID:1686010 |
RGD:2313850, RGD:2313901 |
NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:31,045,945...31,168,010
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|
G
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F7
|
coagulation factor VII
|
|
ISO
|
protein:increased activity, expression:plasma (human) DNA:polymorphism:cds:R353Q (human) associated with Kidney Failure; protein:increased expression:plasma (human)
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RGD |
PMID:11297753 PMID:11146704 PMID:9686915 PMID:15860378 |
RGD:2312384, RGD:2312385, RGD:2312389, RGD:2312383 |
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
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|
G
|
Fads2
|
fatty acid desaturase 2
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treatment
|
IEP
|
associated with hypertension
|
RGD |
PMID:15589689 |
RGD:401901188 |
NCBI chr 1:216,132,277...216,172,190
Ensembl chr 1:206,708,783...206,748,789
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|
G
|
Fas
|
Fas cell surface death receptor
|
|
ISO
|
protein:increased expression:insulin-secreting cells
|
RGD |
PMID:9254659 PMID:19120316 |
RGD:2315754, RGD:2315742 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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|
G
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Faslg
|
Fas ligand
|
|
ISO IDA ISS
|
protein:increased expression:lymphocyte mRNA:decreased expression:lymphocyte OMIM:222100
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MouseDO RGD |
PMID:19120316 PMID:16180659 PMID:17324464 |
RGD:2315742, RGD:2315751, RGD:2315748 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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|
G
|
Fcgr2a
|
Fc gamma receptor 2A
|
|
ISO
|
|
RGD |
PMID:17617565 |
RGD:5508453 |
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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|
G
|
Fgf21
|
fibroblast growth factor 21
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:23499715 |
|
NCBI chr 1:105,219,825...105,221,376
Ensembl chr 1:96,083,441...96,090,454
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|
G
|
Foxo1
|
forkhead box O1
|
|
ISO
|
protein:altered localization:nucleus,liver cell:
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RGD |
PMID:15546000 |
RGD:10045358 |
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
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|
G
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Foxp3
|
forkhead box P3
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susceptibility
|
ISO
|
associated with Autoimmune Diseases;DNA:mutations: :multiple (human) ClinVar Annotator: match by term: Diabetes mellitus type 1
|
ClinVar RGD |
PMID:25741868 PMID:11137992 |
RGD:1598959 |
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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|
G
|
Fuca1
|
alpha-L-fucosidase 1
|
|
ISO
|
protein:decreased activity:plasma
|
RGD |
PMID:7304074 |
RGD:2315949 |
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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|
G
|
G6pc2
|
glucose-6-phosphatase catalytic subunit 2
|
|
ISS
|
OMIM:222100
|
MouseDO |
|
|
NCBI chr 3:53,999,821...54,005,539
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|
G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
|
ISO
|
protein:decreased expression:erythrocyte
|
RGD |
PMID:15914531 |
RGD:2307348 |
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801
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|
G
|
Gad2
|
glutamate decarboxylase 2
|
onset susceptibility
|
ISO ISS
|
OMIM:222100
|
MouseDO RGD |
PMID:19085183 PMID:18005036 PMID:19188044 PMID:19741189 |
RGD:2313294, RGD:2313296, RGD:2313292, RGD:2313289 |
NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
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|
G
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Gal
|
galanin and GMAP prepropeptide
|
|
IEP ISO
|
mRNA, protein:increased expression:celiac ganglion protein:increased expression:plasma
|
RGD |
PMID:16487586 PMID:16060906 |
RGD:1624331, RGD:2313736 |
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
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|
G
|
Gata4
|
GATA binding protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
|
ClinVar |
PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 PMID:28492532 PMID:33865372 More...
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|
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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|
G
|
Gata6
|
GATA binding protein 6
|
|
ISO
|
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
|
ClinVar |
PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 PMID:31271559 More...
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|
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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|
G
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Gc
|
GC, vitamin D binding protein
|
|
ISO
|
DNA:polymorphism:exon:p.D416E(human)
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RGD |
PMID:11239517 |
RGD:2315558 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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|
G
|
Gh1
|
growth hormone 1
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|
ISO IDA
|
protein:increased expression:serum
|
RGD |
PMID:3097114 PMID:2888037 PMID:7298798 |
RGD:2315684, RGD:2315685, RGD:2315674 |
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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|
G
|
Ghr
|
growth hormone receptor
|
|
ISO
|
mRNA, protein:decreased expression:kidney, liver
|
RGD |
PMID:11469393 PMID:12054124 |
RGD:2307367, RGD:2307366 |
NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735
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|
G
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Gimap5
|
GTPase, IMAP family member 5
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|
IAGP
|
DNA:frameshift deletion
|
RGD |
PMID:12097339 PMID:12031988 |
RGD:619544, RGD:633092 |
NCBI chr 4:79,025,151...79,031,917
Ensembl chr 4:77,687,564...77,703,086
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|
G
|
Glis3
|
GLIS family zinc finger 3
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19430480 |
|
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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|
G
|
Gpx3
|
glutathione peroxidase 3
|
|
ISO
|
protein:decreased activity:plasma (human)
|
RGD |
PMID:16489975 |
RGD:2312634 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
|
|
G
|
Gstm1
|
glutathione S-transferase mu 1
|
onset
|
ISO
|
|
RGD |
PMID:16390810 |
RGD:2306629 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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|
G
|
Gstt1
|
glutathione S-transferase theta 1
|
|
IEP
|
mRNA:decreased expression:islets of Langerhans (rat)
|
RGD |
PMID:23111281 |
RGD:7794858 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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|
G
|
Hdac1
|
histone deacetylase 1
|
|
ISO
|
protein:increased expression:pancreatic beta cell:
|
RGD |
PMID:22772764 |
RGD:9590127 |
NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111
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|
G
|
Hdac2
|
histone deacetylase 2
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|
ISO
|
protein:decreased expression:pancreatic beta cell:
|
RGD |
PMID:22772764 |
RGD:9590127 |
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
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|
G
|
Hdac3
|
histone deacetylase 3
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|
ISO
|
protein:decreased expression:pancreatic beta cell:
|
RGD |
PMID:22772764 |
RGD:9590127 |
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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|
G
|
Hnf1a
|
HNF1 homeobox A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Type I diabetes mellitus
|
OMIM CTD ClinVar |
PMID:7842064 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9075819 PMID:9112026 PMID:9166684 PMID:9287053 PMID:9313763 PMID:9313764 PMID:9392505 PMID:9439666 PMID:9604876 PMID:9727913 PMID:9754819 PMID:10027593 PMID:10027594 PMID:10078571 PMID:10333057 PMID:10447526 PMID:10585442 PMID:10588527 PMID:10649494 PMID:10690959 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11272211 PMID:11296231 PMID:11315828 PMID:11315851 PMID:11393552 PMID:11692182 PMID:11719843 PMID:11938027 PMID:11942313 PMID:11978663 PMID:12050210 PMID:12107757 PMID:12355088 PMID:12359128 PMID:12442280 PMID:12453420 PMID:12488961 PMID:12488962 PMID:12530534 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12646418 PMID:12832318 PMID:14598263 PMID:14747304 PMID:15305805 PMID:15387959 PMID:15522234 PMID:15649945 PMID:15657605 PMID:15841481 PMID:15883474 PMID:15928245 PMID:16223942 PMID:16274290 PMID:16496320 PMID:16562587 PMID:16602010 PMID:16834925 PMID:16917892 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17924661 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18513302 PMID:18672310 PMID:18811724 PMID:18838325 PMID:19169489 PMID:19336507 PMID:19754856 PMID:19929997 PMID:20393147 PMID:21051477 PMID:21168233 PMID:21170474 PMID:21224407 PMID:21518407 PMID:21628466 PMID:21696527 PMID:21761282 PMID:21823540 PMID:22060211 PMID:22348187 PMID:22432108 PMID:22432796 PMID:22517943 PMID:23139355 PMID:23274891 PMID:23348805 PMID:23517481 PMID:23551881 PMID:23607861 PMID:23624530 PMID:23771925 PMID:23869231 PMID:24014008 PMID:24033266 PMID:24097065 PMID:24323243 PMID:24728327 PMID:24915262 PMID:25174781 PMID:25411618 PMID:25414397 PMID:25483937 PMID:25555642 PMID:25741868 PMID:25887915 PMID:26059258 PMID:26287533 PMID:26431509 PMID:26467025 PMID:26817999 PMID:26853433 PMID:27080136 PMID:27083284 PMID:27148439 PMID:27271189 PMID:27899486 PMID:27913849 PMID:28012402 PMID:28395978 PMID:28410371 PMID:28453780 PMID:28492532 PMID:28597946 PMID:28701371 PMID:28862987 PMID:28938416 PMID:29207974 PMID:29334895 PMID:29417725 PMID:29439679 PMID:29666556 PMID:29758564 PMID:29927023 PMID:30004997 PMID:30155490 PMID:30191644 PMID:30202817 PMID:30293189 PMID:30455330 PMID:30663027 PMID:30814848 PMID:31166087 PMID:31264968 PMID:31291970 PMID:31363388 PMID:31365591 PMID:31419515 PMID:31447099 PMID:31485449 PMID:31517624 PMID:31576961 PMID:31638168 PMID:32041611 PMID:32238361 PMID:32355288 PMID:32395877 PMID:32418360 PMID:32621647 PMID:32684311 PMID:32741144 PMID:32910913 PMID:33046911 PMID:33216280 PMID:33324081 PMID:33477506 PMID:33889819 PMID:34108472 PMID:34161864 PMID:34373539 PMID:34440499 PMID:34462253 PMID:34496959 PMID:34741762 PMID:34789499 PMID:34825797 PMID:35089870 PMID:35218126 PMID:35310942 PMID:35328643 PMID:35460704 PMID:35673428 PMID:35733065 PMID:35846334 PMID:36208030 PMID:36208343 PMID:36216889 PMID:36257325 PMID:36407475 PMID:36613572 PMID:36703223 PMID:37396188 PMID:38093550 PMID:38933241 More...
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NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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G
|
Hp
|
haptoglobin
|
treatment
|
IEP IDA ISO
|
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16506275 PMID:20975081 PMID:20853098 |
RGD:11041804, RGD:11041868 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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|
G
|
Hsd11b2
|
hydroxysteroid 11-beta dehydrogenase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16616286 PMID:16616286 PMID:11916625 |
RGD:2308923, RGD:2308924 |
NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899
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G
|
Iapp
|
islet amyloid polypeptide
|
|
ISO
|
protein:decreased expression:plasma
|
RGD |
PMID:19033417 PMID:19190104 |
RGD:2313357, RGD:2313356 |
NCBI chr 4:176,968,097...176,975,363
Ensembl chr 4:175,237,115...175,242,920
|
|
G
|
Ica1
|
islet cell autoantigen 1
|
onset
|
ISO
|
mRNA, protein:decreased expression:thymus gland
|
RGD |
PMID:11751995 PMID:14679103 PMID:8647206 |
RGD:2311487, RGD:2311486, RGD:2311488 |
NCBI chr 4:36,656,475...36,804,705
Ensembl chr 4:36,656,475...36,804,298
|
|
G
|
Icam1
|
intercellular adhesion molecule 1
|
susceptibility
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:16978373 PMID:19373518 |
RGD:1625758, RGD:2313468 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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G
|
Ifng
|
interferon gamma
|
|
ISO IMP ISS
|
CTD Direct Evidence: marker/mechanism OMIM:222100
|
CTD MouseDO RGD |
PMID:21340626 PMID:18644830 PMID:8977415 |
RGD:2311493, RGD:10755748 |
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
|
|
G
|
Ifngr2
|
interferon gamma receptor 2
|
|
ISS
|
OMIM:222100
|
MouseDO |
|
|
NCBI chr11:44,265,703...44,283,975
Ensembl chr11:30,779,733...30,798,005
|
|
G
|
Igf1
|
insulin-like growth factor 1
|
severity
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD RGD |
PMID:24632065 PMID:19156625 PMID:16887362 PMID:15356074 |
RGD:2306688, RGD:2313765, RGD:2313769 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
|
|
G
|
Igf2
|
insulin-like growth factor 2
|
|
IEP
|
mRNA, protein:decreased expression:thymus
|
RGD |
PMID:11307180 |
RGD:5510007 |
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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G
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Igf2r
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insulin-like growth factor 2 receptor
|
|
ISO
|
DNA:SNP (human)
|
RGD |
PMID:15531531 |
RGD:2311611 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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|
G
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Igfbp3
|
insulin-like growth factor binding protein 3
|
severity
|
ISO
|
|
RGD |
PMID:16887362 PMID:15356074 |
RGD:2313765, RGD:2313769 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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|
G
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Il10
|
interleukin 10
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:19430480 PMID:17997340 |
RGD:2308949 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
|
|
G
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Il15
|
interleukin 15
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:16098919 PMID:17670937 |
RGD:2313577, RGD:2313574 |
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820
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|
G
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Il18
|
interleukin 18
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:18359638 |
RGD:8655935 |
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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|
G
|
Il19
|
interleukin 19
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19430480 |
|
NCBI chr13:44,949,989...44,958,714
Ensembl chr13:42,399,138...42,405,473
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|
G
|
Il1a
|
interleukin 1 alpha
|
|
ISO
|
mRNA:increased expression:pancreatic islet, leukocyte protein:increased expression:small intestine mucosa
|
RGD |
PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531 |
RGD:2311075, RGD:2311067, RGD:2311065, RGD:2311064 |
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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|
G
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Il1b
|
interleukin 1 beta
|
|
ISO
|
mRNA:increased expression:peripheral blood, leukocyte (human)
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RGD |
PMID:21848584 PMID:1797022 |
RGD:7175335, RGD:7401233 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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|
G
|
Il1r1
|
interleukin 1 receptor type 1
|
|
ISO ISS
|
protein:decreased expression:pancreatic islet DNA:SNP (human) DNA:polymorphism OMIM:222100
|
MouseDO RGD |
PMID:7835294 PMID:11197691 PMID:8911996 |
RGD:2311068, RGD:2311106, RGD:6892703 |
NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937
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|
G
|
Il1rn
|
interleukin 1 receptor antagonist
|
|
ISO
|
protein:increased expression:serum (human) mouse model treated with human protein
|
RGD |
PMID:9112337 PMID:9158104 |
RGD:6907403, RGD:6907407 |
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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|
G
|
Il2
|
interleukin 2
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onset
|
ISO
|
|
RGD |
PMID:17670937 PMID:3514237 |
RGD:2313574, RGD:10047089 |
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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|
G
|
Il20
|
interleukin 20
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19430480 |
|
NCBI chr13:44,933,249...44,936,893
Ensembl chr13:42,380,981...42,384,625
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|
G
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Il21
|
interleukin 21
|
susceptibility treatment
|
ISO
|
associated with Arenaviridae infectious disease
|
RGD |
PMID:27300756 PMID:28711285 |
RGD:127285370, RGD:127285590 |
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996
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|
G
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Il21r
|
interleukin 21 receptor
|
|
ISO
|
|
RGD |
PMID:19208913 |
RGD:6892930 |
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
|
|
G
|
Il27
|
interleukin 27
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19430480 |
|
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582
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|
G
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Il2ra
|
interleukin 2 receptor subunit alpha
|
onset
|
ISO
|
DNA:SNPs CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:17676041 PMID:19119414 PMID:19701192 PMID:30224649 PMID:19119414 PMID:19106270 More...
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RGD:2311527, RGD:2311528 |
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
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G
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Il2rb
|
interleukin 2 receptor subunit beta
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ameliorates
|
ISO
|
|
RGD |
PMID:29367461 |
RGD:42733039 |
NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054
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|
G
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Il4
|
interleukin 4
|
|
ISS
|
OMIM:222100
|
MouseDO |
|
|
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
|
|
G
|
Il6
|
interleukin 6
|
|
ISO
|
DNA:polymorphism:promoter:-174G>C (human) protein:increased expression:extracellular space (human) protein:increased expression:extracellular space (mouse) protein:increased expression:serum: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to
|
CTD ClinVar OMIM RGD |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 PMID:19127455 PMID:19382103 PMID:16960101 PMID:17725274 More...
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RGD:2307275, RGD:2307193, RGD:2307279, RGD:7829749 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G
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Ins1
|
insulin 1
|
|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus
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ClinVar |
PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20133622 PMID:20226046 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22235272 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:26101329 PMID:26467025 PMID:26641800 PMID:28492532 PMID:30414308 PMID:33953728 PMID:34789499 More...
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NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
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Ins2
|
insulin 2
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treatment susceptibility
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ISO ISS
|
CTD Direct Evidence: therapeutic CTD Direct Evidence: marker/mechanism human protein in a mouse model human gene in a mouse model DNA:SNP:promoter:-23A>T (rs689) (human) associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human) associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter (human) OMIM:222100 ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus
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CTD MouseDO ClinVar RGD |
PMID:11921414 PMID:17151334 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20133622 PMID:20226046 PMID:20620209 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22235272 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:26101329 PMID:26467025 PMID:26641800 PMID:28492532 PMID:29420703 PMID:30414308 PMID:33953728 PMID:34789499 PMID:18824271 PMID:21765853 PMID:17284779 PMID:16552513 PMID:20535137 PMID:17284223 PMID:26783749 PMID:15236749 PMID:16382177 PMID:16113600 More...
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RGD:2311114, RGD:150340605, RGD:150340606, RGD:150340607, RGD:150340608, RGD:150340611, RGD:150340612, RGD:150340614, RGD:150340615, RGD:150340616 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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|
G
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Irak3
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interleukin-1 receptor-associated kinase 3
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|
ISS
|
OMIM:222100
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MouseDO |
|
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NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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|
G
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Isl1
|
ISL LIM homeobox 1
|
|
ISO
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DNA:SNPs: :multiple (human)
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RGD |
PMID:15161765 |
RGD:2311116 |
NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584
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G
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Itga2
|
integrin subunit alpha 2
|
|
ISO
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protein:altered expression:thymocyte (mouse)
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RGD |
PMID:18567821 |
RGD:2307423 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
|
|
G
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Itga4
|
integrin subunit alpha 4
|
treatment
|
ISO
|
|
RGD |
PMID:7528925 |
RGD:13593534 |
NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715
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|
G
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Itpr3
|
inositol 1,4,5-trisphosphate receptor, type 3
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susceptibility
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: ITPR3-related condition
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CTD ClinVar OMIM |
PMID:24627108 PMID:25741868 PMID:27549087 PMID:28492532 PMID:32949214 PMID:36302985 More...
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NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
|
|
G
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Kcnj11
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potassium inwardly-rectifying channel, subfamily J, member 11
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
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CTD ClinVar |
PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15838686 PMID:16123337 PMID:16205880 PMID:16416420 PMID:16609879 PMID:16670688 PMID:16731837 PMID:16885550 PMID:17065345 PMID:17327377 PMID:17446535 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17901525 PMID:18025464 PMID:18414213 PMID:18662362 PMID:19065048 PMID:20220270 PMID:20301620 PMID:20466780 PMID:22768671 PMID:24622368 PMID:25308342 PMID:25741868 PMID:26467025 PMID:26839896 PMID:26958039 PMID:27681997 PMID:28480665 PMID:28492532 PMID:29361385 PMID:32792356 PMID:32893419 PMID:33816067 PMID:33987715 More...
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NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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G
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Klrk1
|
killer cell lectin like receptor K1
|
disease_progression
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ISO
|
associated with lymphocytic choriomeningitis
|
RGD |
PMID:22944096 |
RGD:38676492 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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G
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Lgals3
|
galectin 3
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IEP
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|
RGD |
PMID:16600178 |
RGD:9685204 |
NCBI chr15:23,099,795...23,111,731
Ensembl chr15:20,607,692...20,632,025
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G
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Lipc
|
lipase C, hepatic type
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|
ISO
|
protein:decreased expression:plasma (human)
|
RGD |
PMID:9580247 |
RGD:2308845 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G
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Lta
|
lymphotoxin alpha
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onset susceptibility treatment
|
ISO
|
protein:decreased expression:mononuclear cell DNA:polymorphism: :249A>G (human) DNA:SNP (human) DNA:polymorphism: :252A>G (human)
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RGD |
PMID:9342542 PMID:17989340 PMID:11141334 PMID:19120272 PMID:12622777 PMID:8242903 More...
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RGD:2313264, RGD:2313257, RGD:2313263, RGD:2313253, RGD:2313262, RGD:8548842 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G
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Madcam1
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mucosal vascular addressin cell adhesion molecule 1
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|
ISO
|
|
RGD |
PMID:9313747 PMID:17827401 |
RGD:2311545, RGD:2311544 |
NCBI chr 7:10,036,301...10,039,703
Ensembl chr 7:10,036,301...10,039,703
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G
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Mbd2
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methyl-CpG binding domain protein 2
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ISS
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OMIM:222100
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MouseDO |
|
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NCBI chr18:66,449,196...66,516,112
Ensembl chr18:64,174,002...64,240,794
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G
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Mbl2
|
mannose binding lectin 2
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no_association
|
ISO
|
|
RGD |
PMID:18361935 |
RGD:12910829 |
NCBI chr 1:237,429,873...237,465,567
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G
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Mir126a
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microRNA 126a
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|
ISO
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RNA:decreased expression:serum
|
RGD |
PMID:27696070 |
RGD:401850786 |
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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G
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Mir146a
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microRNA 146a
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susceptibility
|
ISO
|
DNA:SNP: :rs2910164 (human)
|
RGD |
PMID:28101643 |
RGD:24922224 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G
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Mir155
|
microRNA 155
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susceptibility
|
ISO
|
DNA:SNP: :rs767649 (human)
|
RGD |
PMID:28101643 |
RGD:24922224 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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G
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Mmp9
|
matrix metallopeptidase 9
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|
ISO
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protein:increased expression:kidney
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RGD |
PMID:23632630 |
RGD:13204760 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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G
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Mt-atp8
|
mitochondrially encoded ATP synthase membrane subunit 8
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susceptibility
|
ISO
|
DNA:transversion: :m.7778G>T (mouse)
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RGD |
PMID:19759059 |
RGD:5490297 |
NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G
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Mthfr
|
methylenetetrahydrofolate reductase
|
severity
|
ISO
|
DNA:transversion:cds:g.1298A>C (human)
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RGD |
PMID:18774994 |
RGD:6893652 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G
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Ncam1
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neural cell adhesion molecule 1
|
onset
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ISO
|
protein:increased expression:pancreatic islet
|
RGD |
PMID:15714132 |
RGD:2326066 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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G
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Neurod1
|
neuronal differentiation 1
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no_association
|
ISO
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DNA:polymorphism: :p.A45T (human) DNA:polymorphism:exon
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RGD |
PMID:15047635 PMID:16909454 PMID:16357810 |
RGD:2313487, RGD:2313481, RGD:2313483 |
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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G
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Nog
|
noggin
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|
ISO
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mRNA, protein:increased expression:aorta
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RGD |
PMID:21193740 |
RGD:10430114 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339
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G
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Nos1
|
nitric oxide synthase 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21666113 |
|
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945
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G
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Nos2
|
nitric oxide synthase 2
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|
ISO ISS
|
OMIM:222100
|
MouseDO RGD |
PMID:19535454 |
RGD:2313214 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G
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Nos3
|
nitric oxide synthase 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21666113 |
|
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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G
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Notch4
|
notch receptor 4
|
|
ISO
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DNA: SNP: 5' utr: rs2395106
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RGD |
PMID:19143814 |
RGD:6480791 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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G
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Pax4
|
paired box 4
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susceptibility
|
ISO
|
DNA:polymorphism: :p.R133W (human) CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:15509590 PMID:15834548 |
RGD:2311634, RGD:2311633 |
NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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G
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Pcsk1
|
proprotein convertase subtilisin/kexin type 1
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|
ISO
|
protein:increased expression:pancreatic islet (mouse)
|
RGD |
PMID:16938896 |
RGD:2308934 |
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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G
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Pdx1
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pancreatic and duodenal homeobox 1
|
|
ISO ISS
|
OMIM:222100
|
MouseDO RGD |
PMID:17383157 |
RGD:2311310 |
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G
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Plat
|
plasminogen activator, tissue type
|
|
ISO
|
|
RGD |
PMID:14652638 |
RGD:2311676 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
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G
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Pon1
|
paraoxonase 1
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|
ISO
|
protein:decreased expression:serum
|
RGD |
PMID:17949258 |
RGD:2313270 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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G
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Ppara
|
peroxisome proliferator activated receptor alpha
|
|
ISO
|
|
RGD |
PMID:19472040 |
RGD:2313779 |
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
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G
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Ppargc1a
|
PPARG coactivator 1 alpha
|
|
ISO
|
mRNA:altered expression:heart, brain, mitochondrion (mouse)
|
RGD |
PMID:19542201 |
RGD:7242046 |
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
|
|
G
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Ppbp
|
pro-platelet basic protein
|
|
ISO
|
|
RGD |
PMID:14730686 |
RGD:1625598 |
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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G
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Prf1
|
perforin 1
|
|
ISS
|
OMIM:222100
|
MouseDO |
|
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NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G
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Prkcq
|
protein kinase C, theta
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18978792 |
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NCBI chr17:72,156,215...72,288,508
Ensembl chr17:67,246,394...67,378,704
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G
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Prrc2a
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proline-rich coiled-coil 2A
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onset
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ISO
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DNA:polymorphism
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RGD |
PMID:10987645 PMID:15842729 |
RGD:2306964, RGD:2306963 |
NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130
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G
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Prss1
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serine protease 1
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IEP
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protein:increased expression:serum
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RGD |
PMID:3833185 |
RGD:1599966 |
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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G
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Psmb8
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proteasome 20S subunit beta 8
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ISO
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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G
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Psmb9
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proteasome 20S subunit beta 9
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ISO
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RGD |
PMID:11717249 |
RGD:6483441 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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G
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Ptf1a
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pancreas associated transcription factor 1a
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ISO
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ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
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ClinVar |
PMID:18591390 PMID:28492532 |
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NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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G
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Pth
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parathyroid hormone
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ISO
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DNA:snp:exon:g.350C>A rs6256 (human)
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RGD |
PMID:22777106 |
RGD:7242744 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G
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Ptpn22
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protein tyrosine phosphatase, non-receptor type 22
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onset susceptibility
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ISO IAGP
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DNA:snp: cds: 1858C>T DNA:missense mutation:cds:p.A629T (rat) DNA:snp:cds:p.R620W (rs2476601) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, susceptibility to
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CTD OMIM ClinVar RGD |
PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 PMID:15744042 PMID:16273109 PMID:16339849 PMID:16470599 PMID:17170052 PMID:17436241 PMID:17554300 PMID:17878369 PMID:18301444 PMID:18978792 PMID:19265110 PMID:19898480 PMID:21190368 PMID:21841778 PMID:28492532 PMID:30224649 PMID:15004560 PMID:21873553 PMID:25513733 PMID:25505293 PMID:20176734 More...
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RGD:6484524, RGD:6484692, RGD:11532754, RGD:9835029, RGD:11533996 |
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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G
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Ptprn
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protein tyrosine phosphatase, receptor type, N
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ISO IDA
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RGD |
PMID:19741189 PMID:7568143 |
RGD:2313289, RGD:729710 |
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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G
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Ptprn2
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protein tyrosine phosphatase, receptor type N2
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ISO ISS
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OMIM:222100
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MouseDO RGD |
PMID:12419281 PMID:18193190 |
RGD:2311684, RGD:2311682 |
NCBI chr 6:137,439,572...138,191,575
Ensembl chr 6:137,439,540...138,191,575
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G
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Ran
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RAN, member RAS oncogene family
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ISO
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human gene in a mouse model
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RGD |
PMID:22114719 |
RGD:9835390 |
NCBI chr12:33,311,155...33,314,339
Ensembl chr12:27,674,050...27,678,276
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G
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Rbfox2
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RNA binding fox-1 homolog 2
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ISO
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mRNA:splice variant: heart (mouse)
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RGD |
PMID:27239029 |
RGD:329845874 |
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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G
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Reg1a
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regenerating family member 1 alpha
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ISO
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human protein in a mouse model
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RGD |
PMID:9564847 |
RGD:9850125 |
NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570
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G
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Retn
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resistin
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ISO
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protein:decreased expression:serum
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RGD |
PMID:15523596 |
RGD:7207163 |
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620
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G
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Rspo1
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R-spondin 1
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IEP
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mRNA:decreased expression:ventromedial nucleus of hypothalamus
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RGD |
PMID:30649980 |
RGD:597830031 |
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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G
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RT1-Ba
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RT1 class II, locus Ba
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onset susceptibility
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ISO
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DNA:polymorphisms: :multiple DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:26168013 PMID:12021143 PMID:16731854 PMID:18769865 PMID:17728790 |
RGD:2301817, RGD:2301812, RGD:2301811, RGD:5147626 |
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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G
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RT1-Bb
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RT1 class II, locus Bb
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susceptibility onset
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ISO
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DNA:polymorphisms, haplotypes:cds:multiple (human) DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human) associated with Sclerosing Lymphocytic Lobulitis CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:26168013 PMID:20858521 PMID:20510319 PMID:17728790 PMID:10562813 PMID:28247576 More...
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RGD:5147569, RGD:5147575, RGD:5147626, RGD:11041764, RGD:14865008 |
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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G
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RT1-Da
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RT1 class II, locus Da
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ISO
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RGD |
PMID:11812739 |
RGD:5490164 |
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
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G
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RT1-Db1
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RT1 class II, locus Db1
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susceptibility onset
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ISO
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DNA:polymorphisms (human) DNA:polymorphisms: :multiple (human) CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:26168013 PMID:12270547 PMID:20858521 PMID:20510319 |
RGD:2314698, RGD:5147569, RGD:5147575 |
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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G
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RT1-Ha
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RT1 class II, locus Ha
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ISO
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RGD |
PMID:7576003 |
RGD:6480651 |
NCBI chr20:4,762,425...4,772,439
Ensembl chr20:4,760,118...4,770,244
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G
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RT1-Hb-ps1
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RT1 class II, locus Hb, pseudogene 1
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ISO
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RGD |
PMID:7576003 |
RGD:6480651 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G
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Runx2
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RUNX family transcription factor 2
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treatment
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IEP
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RGD |
PMID:31096652 |
RGD:598092496 |
NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167
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G
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Sele
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selectin E
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ISO
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protein:increased expression:serum
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RGD |
PMID:18791689 |
RGD:2313595 |
NCBI chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741
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G
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Sell
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selectin L
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ISS
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OMIM:222100
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MouseDO |
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NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456
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G
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Senp1
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SUMO specific peptidase 1
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ISS
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OMIM:222100
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MouseDO |
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NCBI chr 7:129,163,173...129,226,766
Ensembl chr 7:129,165,774...129,221,598
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G
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Serpina7
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serpin family A member 7
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ISO
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protein:decreased expression:serum
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RGD |
PMID:1867879 |
RGD:2312330 |
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
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G
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Serpinf1
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serpin family F member 1
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ISO
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protein:increased expression:serum
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RGD |
PMID:17971181 |
RGD:2312345 |
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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G
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Sh2b3
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SH2B adaptor protein 3
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susceptibility
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ISO
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CTD Direct Evidence: marker/mechanism DNA:SNP: : (rs3184504) (human) DNA:missense mutation:exon: (rs3184504) (human)
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CTD RGD |
PMID:30224649 PMID:21873553 PMID:21829393 |
RGD:6484692, RGD:153297780 |
NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616
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G
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Slc11a1
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solute carrier family 11 member 1
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susceptibility
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ISO
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DNA:SNP:intron:rs3731865 (human) DNA:polymorphism: :274C>T (human) DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:16597321 PMID:21524304 PMID:19768110 PMID:16550170 PMID:15877293 |
RGD:5684926, RGD:5684932, RGD:5684950, RGD:5684955 |
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101
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G
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Slc18a2
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solute carrier family 18 member A2
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IDA ISO
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protein:decreased expression:pancreas (human)
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RGD |
PMID:16710474 PMID:19223416 |
RGD:2317333, RGD:5131199 |
NCBI chr 1:268,399,815...268,435,229
Ensembl chr 1:258,413,959...258,448,325
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G
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Slc29a3
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solute carrier family 29 member 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:19336477 PMID:20140240 |
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NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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G
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Sod1
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superoxide dismutase 1
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ISO
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DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human)
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RGD |
PMID:18423055 |
RGD:2312364 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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G
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Sod2
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superoxide dismutase 2
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ISO
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DNA:polymorphism: :p.A16V (human)
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RGD |
PMID:18423055 |
RGD:2312364 |
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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G
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Srebf2
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sterol regulatory element binding transcription factor 2
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ISO
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RGD |
PMID:18682608 |
RGD:2308812 |
NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848
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G
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Stat3
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signal transducer and activator of transcription 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:25038750 |
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NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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G
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Stat4
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signal transducer and activator of transcription 4
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ISS
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OMIM:222100
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MouseDO |
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NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
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G
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Tap1
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transporter 1, ATP binding cassette subfamily B member
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ISO
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DNA:insertion:intron (human) DNA:mutation:promoter (mouse) DNA:polymorphisms (human)
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RGD |
PMID:9458110 PMID:9300732 PMID:9129974 |
RGD:2312369, RGD:2312370, RGD:2312371 |
NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901
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G
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Tap2
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transporter 2, ATP binding cassette subfamily B member
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ISO
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RGD |
PMID:1300236 PMID:17192492 |
RGD:2312373, RGD:2312368 |
NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407
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G
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Tbp
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TATA box binding protein
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susceptibility no_association
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ISO
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DNA:repeat:cds:g.172(CAG/CAA)38 (human)
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RGD |
PMID:15381080 PMID:15850778 |
RGD:5684348, RGD:5684349 |
NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
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G
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Tf
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transferrin
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ISO
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RGD |
PMID:22861364 |
RGD:7244379 |
NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511
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G
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Tgfb1
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transforming growth factor, beta 1
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ISO
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protein:increased expression:urine
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RGD |
PMID:18979373 |
RGD:2306737 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G
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Th
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tyrosine hydroxylase
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
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ClinVar |
PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:28492532 PMID:33953728 More...
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NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G
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Thbd
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thrombomodulin
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disease_progression
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ISO
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protein:increased expression:plasma
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RGD |
PMID:11738074 |
RGD:2312458 |
NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193
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G
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Timp1
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TIMP metallopeptidase inhibitor 1
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ISO
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protein:increased expression:serum
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RGD |
PMID:17020653 |
RGD:2312468 |
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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G
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Timp2
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TIMP metallopeptidase inhibitor 2
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ISO
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protein:increased expression:serum
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RGD |
PMID:17020653 |
RGD:2312468 |
NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611
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G
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Tlr2
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toll-like receptor 2
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no_association
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ISO
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DNA:SNP: :1350T>C (human) protein:increased expression:monocyte DNA:SNP: :rs3804100 (human)
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RGD |
PMID:17130564 PMID:17707128 PMID:18029454 PMID:19148143 PMID:15699513 |
RGD:2312687, RGD:2312684, RGD:2312683, RGD:2312679, RGD:2312686 |
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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G
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Tlr3
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toll-like receptor 3
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ISO
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DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human)
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RGD |
PMID:16029432 |
RGD:5129476 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G
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Tlr4
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toll-like receptor 4
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ISO
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protein:increased expression:monocyte
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RGD |
PMID:18029454 PMID:16728431 |
RGD:2312683, RGD:2312492 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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G
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Tnf
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tumor necrosis factor
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susceptibility
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ISO
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DNA:SNP (human) CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:23640034 PMID:19120272 |
RGD:2313253 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G
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Tnfrsf11b
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TNF receptor superfamily member 11B
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treatment
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IEP
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RGD |
PMID:31096652 |
RGD:598092496 |
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538
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G
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Tnfsf10
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TNF superfamily member 10
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ISO
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RGD |
PMID:12882912 PMID:18057577 |
RGD:2312743, RGD:2312740 |
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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G
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Tnfsf11
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TNF superfamily member 11
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treatment
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IEP
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RGD |
PMID:31096652 |
RGD:598092496 |
NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445
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G
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Tnfsf4
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TNF superfamily member 4
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ISS
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OMIM:222100
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MouseDO |
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NCBI chr13:76,256,654...76,280,133
Ensembl chr13:73,723,329...73,746,788
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G
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Tyk2
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tyrosine kinase 2
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ISO
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ClinVar Annotator: match by term: Virus-induced diabetes CTD Direct Evidence: marker/mechanism
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ClinVar CTD |
PMID:26288847 PMID:30224649 |
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NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044
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G
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Ucp3
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uncoupling protein 3
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ISO
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RGD |
PMID:18678617 |
RGD:2313502 |
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
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G
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Ugt1a1
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UDP glucuronosyltransferase family 1 member A1
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IEP
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mRNA, protein:increased expression:liver
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RGD |
PMID:9841869 |
RGD:1600450 |
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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G
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Vav1
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vav guanine nucleotide exchange factor 1
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IEP
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mRNA, protein:increased expression:thymus
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RGD |
PMID:10433093 |
RGD:2306005 |
NCBI chr 9:2,248,856...2,295,905
Ensembl chr 9:2,157,900...2,208,937
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G
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Vcam1
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vascular cell adhesion molecule 1
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ISO
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associated with Kidney Failure, Chronic;protein:increased expression:artery:
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RGD |
PMID:22210567 |
RGD:7241034 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
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G
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Vdr
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vitamin D receptor
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ISO
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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G
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Vip
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vasoactive intestinal peptide
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ISO
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RGD |
PMID:20309012 |
RGD:5685388 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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G
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Vwf
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von Willebrand factor
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IEP
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RGD |
PMID:10729383 |
RGD:13673887 |
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
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G
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Wfs1
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wolframin ER transmembrane glycoprotein
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no_association
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ISO
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DNA:mutations:exons, 5' utr, 3' utr:multiple DNA:missense mutation: :p.R456H (human)
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RGD |
PMID:15056606 PMID:15008830 PMID:10679252 |
RGD:8694393, RGD:8694396, RGD:8694402 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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Xylt1
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xylosyltransferase 1
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ISO
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DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human)
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RGD |
PMID:16759312 |
RGD:2313136 |
NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G
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Yy1
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YY1 transcription factor
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treatment
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IAGP IEP
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DNA:SNPs:intron
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RGD |
PMID:15234341 PMID:15619288 |
RGD:9588271, RGD:9588274 |
NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747
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G
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Il2ra
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interleukin 2 receptor subunit alpha
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ISO
|
ClinVar Annotator: match by term: Type 1 diabetes mellitus 10 CTD Direct Evidence: marker/mechanism
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ClinVar OMIM CTD |
PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532 |
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NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
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G
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Ctla4
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cytotoxic T-lymphocyte-associated protein 4
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|
ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 12 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 12
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CTD OMIM ClinVar |
PMID:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:28983403 PMID:29077208 PMID:29200144 PMID:29330115 PMID:29729943 PMID:30048690 PMID:30377434 PMID:30940614 PMID:32181586 PMID:32499327 PMID:33864888 PMID:34034269 PMID:34111452 PMID:34234304 PMID:34619682 PMID:34975878 PMID:35250968 PMID:35753512 More...
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NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
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G
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Myh9
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myosin, heavy chain 9
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ISO
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ClinVar Annotator: match by term: Type 1 diabetes mellitus 17
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ClinVar |
PMID:25741868 |
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NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457
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G
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Igf2
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insulin-like growth factor 2
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ISS
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OMIM:125852
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MouseDO |
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NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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G
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Ins1
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insulin 1
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ISO
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ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
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ClinVar |
PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 PMID:8636380 PMID:9536098 PMID:9667398 PMID:11921414 PMID:17047922 PMID:17576681 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18840770 PMID:19900242 PMID:19952343 PMID:20007936 PMID:20034470 PMID:20226046 PMID:20301620 PMID:20938745 PMID:20948967 PMID:22831748 PMID:22957706 PMID:24097065 PMID:24770419 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:26641800 PMID:27634015 PMID:28492532 PMID:29758564 PMID:30456822 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32792356 PMID:32916194 PMID:32994272 PMID:33953728 PMID:34593315 PMID:34789499 More...
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NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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G
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Ins2
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insulin 2
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ISO
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ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.C96Y (mouse)
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OMIM ClinVar CTD RGD |
PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 PMID:8636380 PMID:9536098 PMID:9667398 PMID:11921414 PMID:17047922 PMID:17576681 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18840770 PMID:19900242 PMID:19952343 PMID:20007936 PMID:20034470 PMID:20133622 PMID:20226046 PMID:20301620 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22831748 PMID:22957706 PMID:24097065 PMID:24411943 PMID:24770419 PMID:25542748 PMID:25741868 PMID:25755231 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:26641800 PMID:27634015 PMID:28492532 PMID:29758564 PMID:30456822 PMID:30977832 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32252216 PMID:32656923 PMID:32792356 PMID:32916194 PMID:32994272 PMID:33409956 PMID:33852861 PMID:33953728 PMID:34584998 PMID:34593315 PMID:34789499 PMID:17911348 More...
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RGD:14401710 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Lipc
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lipase C, hepatic type
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ISO
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ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
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ClinVar |
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25995285 PMID:28492532 PMID:28870971 PMID:30333156 More...
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NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G
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Th
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tyrosine hydroxylase
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ISO
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ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
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ClinVar |
PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 PMID:33953728 More...
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NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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G
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Hnf1a
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HNF1 homeobox A
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 20 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 20 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9112026 PMID:9166684 PMID:9313763 PMID:9313764 PMID:9392505 PMID:9439666 PMID:9754819 PMID:10333057 PMID:10447526 PMID:10585442 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11296231 PMID:11315851 PMID:11393552 PMID:11463573 PMID:11668618 PMID:11942313 PMID:12050210 PMID:12355088 PMID:12359128 PMID:12453420 PMID:12453976 PMID:12530534 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12832318 PMID:14747304 PMID:15114102 PMID:15649945 PMID:15657605 PMID:15726414 PMID:15883474 PMID:15928245 PMID:16917892 PMID:16930618 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:19150152 PMID:19169489 PMID:19929997 PMID:20393147 PMID:21051477 PMID:21224407 PMID:21236713 PMID:21395678 PMID:21518407 PMID:21628466 PMID:21648289 PMID:21683639 PMID:21696527 PMID:21823540 PMID:22348187 PMID:22432108 PMID:22517943 PMID:22808921 PMID:23348805 PMID:23551881 PMID:23607861 PMID:23610083 PMID:23674172 PMID:23803251 PMID:24069322 PMID:24097065 PMID:25174781 PMID:25414397 PMID:25555642 PMID:25741868 PMID:25935773 PMID:26059258 PMID:26110317 PMID:26287533 PMID:26431509 PMID:26467025 PMID:26479152 PMID:27080136 PMID:27148439 PMID:27899486 PMID:28012402 PMID:28170077 PMID:28395978 PMID:28410371 PMID:28453780 PMID:28492532 PMID:28701371 PMID:28862987 PMID:29207974 PMID:29417725 PMID:29439679 PMID:30191644 PMID:30293189 PMID:30455330 PMID:30814848 PMID:31166087 PMID:31264968 PMID:31365591 PMID:31483937 PMID:31517624 PMID:31576961 PMID:31638168 PMID:32041611 PMID:32238361 PMID:32355288 PMID:32395877 PMID:32741144 PMID:32910913 PMID:33046911 PMID:33242514 PMID:33245425 PMID:33889819 PMID:34373539 PMID:34496959 PMID:34556497 PMID:34789499 PMID:34825797 PMID:35328643 PMID:35673428 PMID:36208030 PMID:36208343 PMID:36257325 PMID:36613572 PMID:37396188 More...
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NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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G
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Ccr5
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C-C motif chemokine receptor 5
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ISO
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ClinVar Annotator: match by term: Type 1 diabetes mellitus 22 CTD Direct Evidence: marker/mechanism
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ClinVar OMIM CTD |
PMID:25741868 |
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NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G
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LOC120095693
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small ubiquitin-related modifier 2-like
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
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OMIM CTD ClinVar |
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 |
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NCBI chr11:79,163,457...79,164,088
Ensembl chr11:79,163,634...79,163,960
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G
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Tab2
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TGF-beta activated kinase 1/MAP3K7 binding protein 2
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ISO
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ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
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ClinVar |
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 |
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NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:2,375,490...2,424,756
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G
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Neurod1
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neuronal differentiation 1
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ISS
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OMIM:600321
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MouseDO |
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NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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G
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Aanat
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aralkylamine N-acetyltransferase
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IDA
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mRNA, protein:increased expression, decreased activity:pineal gland
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RGD |
PMID:16441550 |
RGD:2301037 |
NCBI chr10:101,827,072...101,831,805
Ensembl chr10:101,827,301...101,831,801
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G
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Abca1
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ATP binding cassette subfamily A member 1
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onset
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ISO
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DNA:SNP:exon:p.R230C (rs9282541) (human)
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RGD |
PMID:18003760 |
RGD:2312576 |
NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:67,681,297...67,801,170
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G
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Abcb1a
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ATP binding cassette subfamily B member 1A
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ISO
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DNA:polymorphism:exon (human)
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RGD |
PMID:19470683 |
RGD:2312331 |
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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G
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Abcc2
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ATP binding cassette subfamily C member 2
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IEP ISO
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mRNA: decreased expression: liver mRNA:decreased expression:liver protein: increased expression
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RGD |
PMID:15319330 PMID:25152023 PMID:18189363 |
RGD:2312736, RGD:14700811, RGD:2312726 |
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
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G
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Abcc8
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ATP binding cassette subfamily C member 8
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susceptibility
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ISO
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DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.S1369A (human) DNA:polymorphism:intron:IVS16-3T>C (human) DNA:polymorphism:exon: DNA:missense mutation::A1369S (human)
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ClinVar CTD OMIM RGD |
PMID:1021286 PMID:3202066 PMID:7716548 PMID:7908292 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10923633 PMID:10993895 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11395395 PMID:11457841 PMID:11692183 PMID:11697420 PMID:11867634 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12199344 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15807877 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:19933268 PMID:20301549 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21674179 PMID:21716120 PMID:21738553 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22082043 PMID:22151254 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22308858 PMID:22533711 PMID:22591706 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23563683 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23798684 PMID:23926410 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24814349 PMID:24937539 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25931474 PMID:25972930 PMID:26162674 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26594346 PMID:26740944 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27681997 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28018462 PMID:28123437 PMID:28270372 PMID:28346775 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28663158 PMID:28701683 PMID:28757749 PMID:28791793 PMID:29082728 PMID:29127764 PMID:29207974 PMID:29644095 PMID:29751826 PMID:29893194 PMID:30098243 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30193751 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30753133 PMID:30873120 PMID:30977832 PMID:31110826 PMID:31208162 PMID:31216263 PMID:31218401 PMID:31264968 PMID:31291970 PMID:31464105 PMID:31589614 PMID:31604004 PMID:31727138 PMID:31821855 PMID:31957151 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33013711 PMID:33046911 PMID:33240318 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33565752 PMID:33587123 PMID:34055426 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34304300 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34682101 PMID:34741762 PMID:34764980 PMID:34927408 PMID:35029855 PMID:35402560 PMID:35475025 PMID:36034573 PMID:36144251 PMID:36208030 PMID:36239000 PMID:36339418 PMID:36407475 PMID:36504295 PMID:36836406 PMID:37007940 PMID:37071846 PMID:38095268 PMID:38513803 PMID:18346985 PMID:18599530 PMID:18664331 PMID:11030411 PMID:17259403 PMID:15579791 More...
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RGD:2301901, RGD:2301898, RGD:2301897, RGD:737749, RGD:2313628, RGD:1598640 |
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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G
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Abcg2
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ATP binding cassette subfamily G member 2
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IEP
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mRNA:decreased expression:liver
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RGD |
PMID:25152023 |
RGD:14700811 |
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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G
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Acads
|
acyl-CoA dehydrogenase short chain
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:18523805 PMID:25741868 PMID:28492532 |
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NCBI chr12:47,154,259...47,163,580
Ensembl chr12:41,493,626...41,502,898
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G
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Ace
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angiotensin I converting enzyme
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susceptibility
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ISO
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DNA:deletion:intron:IVS16+1464-1751del (human)
|
GAD RGD |
PMID:15118671 PMID:24452036 |
RGD:1331525, RGD:8142353 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G
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Acot2
|
acyl-CoA thioesterase 2
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IDA
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RGD |
PMID:16979414 |
RGD:1625728 |
NCBI chr 6:109,341,426...109,352,818
Ensembl chr 6:103,611,544...103,619,245
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G
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Acp1
|
acid phosphatase 1
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ISO
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RGD |
PMID:15281007 |
RGD:2313183 |
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
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G
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Acp7
|
acid phosphatase 7, tartrate resistant
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,896,485...83,923,436
Ensembl chr 1:83,898,153...83,920,634
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G
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Actn4
|
actinin alpha 4
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:93,310,294...93,379,369
Ensembl chr 1:84,182,788...84,251,847
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G
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Ada
|
adenosine deaminase
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ISO
|
protein:increased expression:serum
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RGD |
PMID:15168879 |
RGD:2313539 |
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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G
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Adam17
|
ADAM metallopeptidase domain 17
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|
ISO
|
protein:increased activity:artery smooth muscle protein:increased activity:skeletal muscle tissue
|
RGD |
PMID:19581416 PMID:19633828 |
RGD:2313250, RGD:2312470 |
NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:40,872,856...40,920,639
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G
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Adamts9
|
ADAM metallopeptidase with thrombospondin type 1 motif, 9
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18372903 PMID:23967108 |
|
NCBI chr 4:125,290,633...125,462,988
Ensembl chr 4:125,291,490...125,462,929
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G
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Adcy5
|
adenylate cyclase 5
|
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ISO IEP
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:20081858 PMID:23202124 PMID:12607610 |
RGD:13464136 |
NCBI chr11:78,976,861...79,123,343
Ensembl chr11:65,471,612...65,618,974
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G
|
Adipoq
|
adiponectin, C1Q and collagen domain containing
|
|
ISO IEP
|
CTD Direct Evidence: marker/mechanism DNA:SNP: :g.45T>G (human) associated with myocardial infarction;protein:decreased expression: : protein:decreased expression:plasma protein:decreased expression:plasma, myocardium:
|
CTD RGD |
PMID:12114044 PMID:12354786 PMID:15734870 PMID:19622782 PMID:28843383 PMID:24655058 PMID:18472407 PMID:16822679 PMID:21155820 PMID:19708766 More...
|
RGD:2313238, RGD:14975146, RGD:8694412, RGD:5686807, RGD:5686752, RGD:5686359, RGD:2313230 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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|
G
|
Adipor2
|
adiponectin receptor 2
|
no_association
|
ISO
|
|
RGD |
PMID:18075289 PMID:18363889 PMID:18548168 PMID:19631916 |
RGD:2312490, RGD:2312486, RGD:2312480, RGD:2312476 |
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
|
|
G
|
Adm
|
adrenomedullin
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:17557032 |
RGD:2313313 |
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
|
|
G
|
Adra2a
|
adrenoceptor alpha 2A
|
susceptibility
|
IEP ISO
|
mRNA, protein:increased expression:pancreatic islet DNA:SNP:3' utr:rs553668 (human)
|
RGD |
PMID:19965390 PMID:19965390 |
RGD:2316628, RGD:2316628 |
NCBI chr 1:263,066,780...263,069,580
Ensembl chr 1:253,060,218...253,064,365
|
|
G
|
Adra2b
|
adrenoceptor alpha 2B
|
onset
|
ISO
|
DNA:polymorphism (human)
|
RGD |
PMID:17039423 PMID:17277585 |
RGD:2313544, RGD:2313543 |
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
|
|
G
|
Adrb2
|
adrenoceptor beta 2
|
no_association
|
ISO
|
DNA:polymorphisms: :p.R16G, p.Q27E
|
RGD GAD |
PMID:17221209 PMID:15118671 |
RGD:1601119, RGD:1331525 |
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512
|
|
G
|
Adrb3
|
adrenoceptor beta 3
|
onset susceptibility no_association
|
ISO
|
DNA:missense mutation: :p.I62M (human) DNA:polymorphism: :p.W64R (human) DNA:missense mutation:cds:p.W64R rs4994 (human)
|
RGD |
PMID:16444766 PMID:17727676 PMID:19659999 |
RGD:2313163, RGD:2313149, RGD:2313148 |
NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
|
|
G
|
Agap2
|
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
|
|
ISO
|
|
RGD |
PMID:20068140 |
RGD:13838849 |
NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
|
|
G
|
Ager
|
advanced glycosylation end product-specific receptor
|
treatment no_association
|
ISO IEP IDA
|
DNA:SNP: :557G>A (rs2070600, p.G82S) (human) DNA:SNP: :1704G>T, 2184A>G (human) DNA:SNP: :2245A>G (human) DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human) DNA:SNPs:promoter:-374T>A, -429T/C (human) protein:increased expression:jejunum, intestinal villi (rat)
|
RGD |
PMID:23630304 PMID:21067572 PMID:11884895 PMID:11884895 PMID:15896660 PMID:22154374 PMID:23403079 PMID:19735169 More...
|
RGD:7243184, RGD:8548676, RGD:8695991, RGD:8695991, RGD:8695969, RGD:8695962, RGD:7244262, RGD:7244245 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
|
|
G
|
Agrp
|
agouti related neuropeptide
|
|
IEP ISO
|
mRNA:decreased expression:hypothalamus DNA:polymorphism:promoter:-38C>T (human)
|
RGD |
PMID:18001323 PMID:11554767 |
RGD:2311538, RGD:2314000 |
NCBI chr19:50,357,899...50,396,758
Ensembl chr19:33,447,992...33,449,584
|
|
G
|
Agt
|
angiotensinogen
|
no_association
|
ISO
|
mRNA, protein:increased expression:smooth muscle cell, carotid artery DNA:polymorphism: :p.T174M, p.M235T (human)
|
RGD |
PMID:17170378 PMID:9258285 |
RGD:1601138, RGD:8548863 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
|
|
G
|
Agtr2
|
angiotensin II receptor, type 2
|
|
IEP
|
mRNA, protein:increased expression:aorta
|
RGD |
PMID:18463192 |
RGD:2313550 |
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
|
|
G
|
Ahi1
|
Abelson helper integration site 1
|
|
ISO
|
mRNA:increased expression:vastus lateralis
|
RGD |
PMID:20045148 |
RGD:11537398 |
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
|
|
G
|
Ahsg
|
alpha-2-HS-glycoprotein
|
susceptibility
|
ISO
|
DNA:polymorphism: :-469T>G (rs2077119) (human)
|
RGD |
PMID:18316360 PMID:18633113 |
RGD:2313812, RGD:2313811 |
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
|
|
G
|
Ak1
|
adenylate kinase 1
|
|
IEP
|
protein:increased expression:gastrocnemius muscle (rat)
|
RGD |
PMID:20127051 |
RGD:5134362 |
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
|
|
G
|
Akr1b1
|
aldo-keto reductase family 1 member B1
|
susceptibility
|
ISO
|
DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human)
|
RGD |
PMID:15569136 |
RGD:8548678 |
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
|
|
G
|
Akt1
|
AKT serine/threonine kinase 1
|
treatment
|
ISO IEP IDA
|
CTD Direct Evidence: marker/mechanism protein:increased serine phosphorylation:vascular associated smooth muscle cell
|
CTD RGD |
PMID:31626838 PMID:19289493 PMID:24735788 PMID:19052261 |
RGD:2311130, RGD:39128151, RGD:2313556 |
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
|
|
G
|
Akt2
|
AKT serine/threonine kinase 2
|
|
ISO ISS
|
DNA:missense mutation:cds:p.R274H (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 CTD Direct Evidence: marker/mechanism protein:decreased activity, phosphorylation:vastus lateralis (human)
|
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:15166380 PMID:16722806 PMID:17327441 PMID:17576681 PMID:19164855 PMID:21518566 PMID:21979934 PMID:25741868 PMID:28166811 PMID:28341696 PMID:28492532 PMID:32041611 PMID:33848288 PMID:15166380 PMID:11387480 PMID:19289493 PMID:18972094 PMID:18204829 More...
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RGD:2313408, RGD:734545, RGD:2311130, RGD:2307342, RGD:2313405 |
NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
|
|
G
|
Aldh2
|
aldehyde dehydrogenase 2 family member
|
|
ISO
|
|
RGD |
PMID:15563966 |
RGD:2311149 |
NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
|
|
G
|
Aldob
|
aldolase, fructose-bisphosphate B
|
|
IDA IEP ISO
|
mRNA:decreased expression:soleus (rat) DNA:SNP:intron: (human)
|
RGD |
PMID:19106228 PMID:19106228 PMID:12646233 |
RGD:2313414, RGD:2313414, RGD:2313434 |
NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:63,889,046...63,902,116
|
|
G
|
Alms1
|
ALMS1, centrosome and basal body associated protein
|
no_association
|
ISO
|
DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human)
|
RGD |
PMID:16601972 |
RGD:8696017 |
NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005
|
|
G
|
Alox12
|
arachidonate 12-lipoxygenase, 12S type
|
|
ISO
|
protein:decreased activity:platelet (human)
|
RGD |
PMID:9500559 |
RGD:2313877 |
NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542
|
|
G
|
Angpt2
|
angiopoietin 2
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:15823283 |
RGD:2313815 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
|
|
G
|
Angptl3
|
angiopoietin-like 3
|
|
ISO
|
protein:increased expression:liver
|
RGD |
PMID:15094378 |
RGD:2314234 |
NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
|
|
G
|
Ankrd23
|
ankyrin repeat domain 23
|
|
IEP
|
RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue
|
RGD |
PMID:12456686 |
RGD:2314859 |
NCBI chr 9:38,773,234...38,778,705
Ensembl chr 9:38,773,240...38,779,839
|
|
G
|
Aoc3
|
amine oxidase, copper containing 3
|
|
ISO IDA
|
protein:increased expression:serum
|
RGD |
PMID:14656718 PMID:19336232 PMID:12663473 |
RGD:2313822, RGD:2313820, RGD:2313823 |
NCBI chr10:86,272,757...86,280,702
|
|
G
|
Ap3s2
|
adaptor related protein complex 3 subunit sigma 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21874001 |
|
NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
|
|
G
|
Apln
|
apelin
|
|
ISO
|
protein:decreased expression:plasma
|
RGD |
PMID:18484561 |
RGD:2313944 |
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
|
|
G
|
Aplnr
|
apelin receptor
|
|
ISO
|
protein:decreased expression:renal artery
|
RGD |
PMID:17692936 |
RGD:2313945 |
NCBI chr 3:90,624,055...90,627,700
Ensembl chr 3:70,217,385...70,221,050
|
|
G
|
Apoa1
|
apolipoprotein A1
|
|
ISO
|
protein:altered localization:plasma lipoprotein particle protein:increased expression, increased glycation:plasma
|
RGD |
PMID:9649952 PMID:18079481 |
RGD:2313961, RGD:7241576 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
|
|
G
|
Apoa2
|
apolipoprotein A2
|
|
ISO
|
protein:altered localization:plasma lipoprotein particle protein:decreased expression:serum
|
RGD |
PMID:9649952 PMID:19817643 |
RGD:2313961, RGD:2313955 |
NCBI chr13:86,176,767...86,178,819
Ensembl chr13:83,644,470...83,646,355
|
|
G
|
Apoa5
|
apolipoprotein A5
|
no_association
|
ISO
|
DNA:polymorphism: :c.553G>T (human) DNA:polymorphism: :-1131T>C (human)
|
RGD |
PMID:17087641 PMID:17548321 PMID:16039297 |
RGD:2313319, RGD:2313318, RGD:2313321 |
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
|
|
G
|
Apob
|
apolipoprotein B
|
treatment
|
ISO
|
|
RGD |
PMID:18945923 PMID:15161783 |
RGD:2313981, RGD:11354945 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
|
|
G
|
Apoc1
|
apolipoprotein C1
|
|
ISO
|
protein:decreased expression:plasma
|
RGD |
PMID:3757210 |
RGD:2313953 |
NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
|
|
G
|
Apoc2
|
apolipoprotein C2
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:3757210 PMID:12733353 |
RGD:2313953, RGD:2313966 |
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
|
|
G
|
Apod
|
apolipoprotein D
|
|
ISO
|
DNA:polymorphism
|
RGD |
PMID:15369805 PMID:7895459 |
RGD:2311177, RGD:2311178 |
NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
|
|
G
|
Apoe
|
apolipoprotein E
|
|
ISO
|
protein:increased expression:pancreatic islet
|
RGD GAD |
PMID:18950899 PMID:15118671 |
RGD:2317556, RGD:1331525 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
|
|
G
|
Apoh
|
apolipoprotein H
|
|
ISO
|
|
RGD |
PMID:16126948 |
RGD:2313984 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
|
|
G
|
Apom
|
apolipoprotein M
|
susceptibility
|
ISO
|
DNA:SNP:promoter:g.-778T>C(rs805296)(human)
|
RGD |
PMID:16572495 |
RGD:2314248 |
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
|
|
G
|
Aqp7
|
aquaporin 7
|
|
ISO
|
protein:increased expression:skeletal muscle:
|
RGD |
PMID:29783856 |
RGD:13782361 |
NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:56,172,519...56,186,642
|
|
G
|
Ar
|
androgen receptor
|
|
ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
|
MouseDO |
|
|
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
|
|
G
|
Arnt
|
aryl hydrocarbon receptor nuclear translocator
|
|
ISO
|
mRNA:decreased expression:pancreatic islet
|
RGD |
PMID:16096055 |
RGD:2313995 |
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
|
|
G
|
Arrb2
|
arrestin, beta 2
|
treatment
|
IEP
|
|
RGD |
PMID:24337852 |
RGD:13506901 |
NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,146,818...55,154,850
|
|
G
|
Arx
|
aristaless related homeobox
|
|
IEP
|
|
RGD |
PMID:16772326 |
RGD:1599258 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
|
|
G
|
Asip
|
agouti signaling protein
|
|
ISO ISS
|
mRNA:increased expression:adipose tissue OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 CTD Direct Evidence: marker/mechanism
|
MouseDO CTD RGD |
PMID:8146154 PMID:14633851 |
RGD:2313999 |
NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:143,555,696...143,561,171
|
|
G
|
Asl
|
argininosuccinate lyase
|
|
ISO
|
mRNA:increased expression:leukocyte
|
RGD |
PMID:16121806 |
RGD:2314010 |
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
|
|
G
|
Atf3
|
activating transcription factor 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr13:105,274,103...105,331,653
Ensembl chr13:102,751,321...102,764,631
|
|
G
|
Atp2a1
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
|
|
IEP
|
|
RGD |
PMID:22009485 |
RGD:6771327 |
NCBI chr 1:190,457,198...190,475,410
Ensembl chr 1:181,026,608...181,044,838
|
|
G
|
Atp2a2
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
|
|
IEP IDA ISO
|
mRNA:decreased expression:heart left ventricle CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:21216827 PMID:27222135 PMID:22009485 |
RGD:6892953, RGD:13782085, RGD:6771327 |
NCBI chr12:39,733,519...39,782,942
Ensembl chr12:34,072,683...34,122,101
|
|
G
|
Atp2a3
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr10:58,079,710...58,111,279
Ensembl chr10:57,582,128...57,612,748
|
|
G
|
Atp5f1b
|
ATP synthase F1 subunit beta
|
|
IEP
|
protein:decreased expression:islet of Langerhans (rat)
|
RGD |
PMID:21117707 |
RGD:13792619 |
NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:515,460...567,273
|
|
G
|
Auts2
|
activator of transcription and developmental regulator AUTS2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
|
|
G
|
Avp
|
arginine vasopressin
|
|
IEP
|
protein:increased expression:hypothalamus
|
RGD |
PMID:17940875 |
RGD:2301922 |
NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:117,793,457...117,795,425
|
|
G
|
Axl
|
Axl receptor tyrosine kinase
|
|
ISO
|
|
RGD |
PMID:10528229 |
RGD:2325834 |
NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
|
|
G
|
B2m
|
beta-2 microglobulin
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:15127324 |
RGD:2311236 |
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
|
|
G
|
Bace2
|
beta-secretase 2
|
treatment
|
ISO
|
|
RGD |
PMID:28337562 |
RGD:13782177 |
NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546
|
|
G
|
Bad
|
BCL2-associated agonist of cell death
|
|
IEP
|
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823
|
|
G
|
Bax
|
BCL2 associated X, apoptosis regulator
|
treatment
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:31626838 PMID:22543177 |
RGD:10054139 |
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
|
|
G
|
Bche
|
butyrylcholinesterase
|
susceptibility
|
ISO
|
DNA:polymorphism: :p.A539T (human)
|
RGD GAD |
PMID:11793025 PMID:16442234 PMID:15118671 |
RGD:2306782, RGD:2306780, RGD:1331525 |
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
|
|
G
|
Bcl2
|
BCL2, apoptosis regulator
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16959961 PMID:31626838 PMID:23032698 |
RGD:10053698 |
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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|
G
|
Bcl2l1
|
Bcl2-like 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16959961 |
|
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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|
G
|
Bcl2l11
|
Bcl2-like 11
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr 3:135,820,042...135,857,330
Ensembl chr 3:115,366,646...115,404,068
|
|
G
|
Bdnf
|
brain-derived neurotrophic factor
|
|
ISO
|
protein:decreased expression:plasma
|
RGD |
PMID:17151862 |
RGD:10059350 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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|
G
|
Becn1
|
beclin 1
|
treatment
|
IEP
|
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
|
|
G
|
Bglap
|
bone gamma-carboxyglutamate protein
|
|
ISO
|
protein:decreased expression:serum:
|
RGD |
PMID:15747054 |
RGD:7207410 |
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495
|
|
G
|
Bhmt
|
betaine-homocysteine S-methyltransferase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23665415 |
|
NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
|
|
G
|
Bmal2
|
basic helix-loop-helix ARNT like 2
|
|
ISO
|
DNA:SNPs: :rs7950226, rs11022775(human)
|
RGD |
PMID:17728404 |
RGD:2314371 |
NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
|
|
G
|
Braf
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
|
|
G
|
Bscl2
|
BSCL2 lipid droplet biogenesis associated, seipin
|
no_association
|
IAGP
|
|
RGD |
PMID:12584444 |
RGD:1600600 |
NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:205,733,872...205,743,421
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|
G
|
Btc
|
betacellulin
|
susceptibility
|
ISO
|
DNA:polymorphism:promoter:-226A/G (human) DNA:polymorphism:exon:p.C7G (human)
|
RGD |
PMID:16306376 PMID:15793259 |
RGD:2306967, RGD:2306973 |
NCBI chr14:16,992,668...17,031,178
Ensembl chr14:16,707,982...16,747,049
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|
G
|
C12h12orf43
|
similar to human chromosome 12 open reading frame 43
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:25057215 PMID:25741868 |
|
NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
|
|
G
|
C17h10orf67
|
similar to human chromosome 10 open reading frame 67
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
|
|
NCBI chr17:82,062,461...82,174,401
Ensembl chr17:82,071,838...82,174,353
|
|
G
|
C1h19orf47
|
similar to human chromosome 19 open reading frame 47
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
|
|
G
|
C2cd4a
|
C2 calcium-dependent domain containing 4A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20818381 |
|
NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031
|
|
G
|
C2cd4b
|
C2 calcium-dependent domain containing 4B
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20818381 |
|
NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328
|
|
G
|
C3
|
complement C3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20504758 |
|
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
|
|
G
|
Cacna1d
|
calcium voltage-gated channel subunit alpha1 D
|
susceptibility
|
ISO
|
DNA:SNPs: :rs9841978,rs312486(human) mRNA:decreased expression:pancreatic islet:
|
RGD |
PMID:23229155 PMID:23229155 |
RGD:13506727, RGD:13506727 |
NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215
|
|
G
|
Cadm2
|
cell adhesion molecule 2
|
|
ISO
|
DNA:SNP: :rs13078807 (human)
|
RGD |
PMID:28401323 |
RGD:15092076 |
NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
|
|
G
|
Calca
|
calcitonin-related polypeptide alpha
|
|
IEP ISO
|
protein:decreased expression:dorsal root ganglion, neuron
|
RGD |
PMID:17151309 PMID:19816194 |
RGD:2314035, RGD:2314032 |
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105
|
|
G
|
Calm1
|
calmodulin 1
|
|
IEP
|
mRNA:decreased expression:heart
|
RGD |
PMID:21216827 |
RGD:6892953 |
NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:119,487,621...119,498,227
|
|
G
|
Capn10
|
calpain 10
|
|
ISO IAGP IEP
|
mRNA:increased expression:pancreas CTD Direct Evidence: marker/mechanism DNA:SNP:intron:rs2975760 (human) associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human) DNA:polymorphism mRNA:decreased expression
|
CTD RGD |
PMID:23349674 PMID:19688040 PMID:18554168 PMID:20406624 PMID:22012129 PMID:16721485 PMID:14658759 PMID:14646187 More...
|
RGD:4107074, RGD:7247735, RGD:7247734, RGD:7247733, RGD:1625049, RGD:737693, RGD:1625063 |
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
|
|
G
|
Capn12
|
calpain 12
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,171,059...84,183,161
Ensembl chr 1:84,171,059...84,183,119
|
|
G
|
Cartpt
|
CART prepropeptide
|
|
IEP ISO
|
protein:increased expression:pancreatic B cell mRNA:increased expression:pancreatic islet:
|
RGD |
PMID:16443761 PMID:27338624 PMID:27338624 |
RGD:2313632, RGD:597805937, RGD:597805937 |
NCBI chr 2:31,255,098...31,257,452
Ensembl chr 2:31,255,098...31,290,713
|
|
G
|
Casp12
|
caspase 12
|
|
IEP
|
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
|
|
G
|
Casp3
|
caspase 3
|
|
ISO
|
protein:increased activity:pancreatic B cell CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:15531508 PMID:19100955 |
RGD:2311446 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
|
|
G
|
Casp7
|
caspase 7
|
|
IEP
|
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729
|
|
G
|
Casp8
|
caspase 8
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:15531508 PMID:17563067 |
RGD:2311429 |
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
|
|
G
|
Casp9
|
caspase 9
|
|
ISO
|
DNA:SNP (human)
|
RGD |
PMID:16038259 |
RGD:2311246 |
Ensembl chr 5:154,109,046...154,126,626
|
|
G
|
Casq1
|
calsequestrin 1
|
no_association
|
ISO
|
DNA:snp: :rs617698(human) DNA:snp: :rs2275703(human) DNA:snps: :multiple
|
RGD |
PMID:18269685 PMID:17681849 PMID:15561962 PMID:15561963 |
RGD:2314133, RGD:2314134, RGD:2314136, RGD:2314135 |
NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
|
|
G
|
Cat
|
catalase
|
|
ISO
|
protein:decreased activity:plasma: CTD Direct Evidence: marker/mechanism|therapeutic
|
CTD RGD |
PMID:15111504 PMID:15531508 PMID:12357295 |
RGD:9068922 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
|
|
G
|
Cbs
|
cystathionine beta synthase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23665415 |
|
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
|
|
G
|
Ccdc92
|
coiled-coil domain containing 92
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr12:31,796,102...31,823,333
Ensembl chr12:31,796,684...31,823,337
|
|
G
|
Cckar
|
cholecystokinin A receptor
|
|
IAGP
|
DNA:deletion
|
RGD |
PMID:16815799 |
RGD:1625200 |
NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
|
|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
treatment
|
IEP
|
protein:increased expression:urine
|
RGD |
PMID:18388116 PMID:25899686 |
RGD:2301862, RGD:14995493 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
|
|
G
|
Ccl5
|
C-C motif chemokine ligand 5
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:17966842 |
RGD:2307064 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
|
|
G
|
Ccn2
|
cellular communication network factor 2
|
|
IEP
|
mRNA, protein:increased expression:left ventricle (rat)
|
RGD |
PMID:19902320 |
RGD:2314357 |
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
|
|
G
|
Ccnd2
|
cyclin D2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24464100 |
|
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495
|
|
G
|
Ccr2
|
C-C motif chemokine receptor 2
|
|
ISO
|
protein:increased expression:monocyte
|
RGD |
PMID:16631114 |
RGD:2313561 |
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
|
|
G
|
Ccr5
|
C-C motif chemokine receptor 5
|
treatment
|
ISO IEP
|
protein:increased expression:monocyte
|
RGD |
PMID:17966842 PMID:23063706 |
RGD:2307064, RGD:8552229 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
|
|
G
|
Cd36
|
CD36 molecule
|
severity
|
ISO IEP
|
protein:increased expression:plasma ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism protein:increased expression:platelet protein:increased expression:heart DNA:nonsense mutation: :p.L360X DNA:SNP:promoter protein:increased expression:aorta
|
ClinVar CTD RGD |
PMID:16911630 PMID:16952981 PMID:25741868 PMID:31626838 PMID:32347024 PMID:32796572 PMID:16952981 PMID:12479587 PMID:20134099 PMID:7544802 PMID:15221799 PMID:16911630 PMID:17127041 More...
|
RGD:2307212, RGD:11040908, RGD:6893499, RGD:2307219, RGD:2307218, RGD:2307213, RGD:2307211 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
|
|
G
|
Cd38
|
CD38 molecule
|
|
ISO IEP
|
DNA:missense mutation: :p.R140W (human) mRNA:decreased expression:pancreatic islet
|
RGD |
PMID:12242463 PMID:9754820 PMID:7669044 |
RGD:2307232, RGD:2307233, RGD:2307234 |
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
|
|
G
|
Cd40lg
|
CD40 ligand
|
|
ISO
|
protein:increased expression:serum associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue
|
RGD |
PMID:16423632 PMID:19280268 |
RGD:2314214, RGD:5688143 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
|
|
G
|
Cdk4
|
cyclin-dependent kinase 4
|
no_association
|
ISO
|
DNA:polymorphism:intron:IVS4-40G>A (human)
|
RGD |
PMID:18678431 PMID:19695727 |
RGD:2314611, RGD:2314610 |
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
|
|
G
|
Cdkal1
|
CDK5 regulatory subunit associated protein 1-like 1
|
|
ISO ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism DNA:snp: :rs7754840(human) DNA:snps: :multiple
|
MouseDO ClinVar CTD RGD |
PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:23104008 PMID:23202124 PMID:24760768 PMID:19401414 PMID:18991055 PMID:18633108 More...
|
RGD:2313941, RGD:2313947, RGD:2313949 |
NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524
|
|
G
|
Cdo1
|
cysteine dioxygenase type 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23665415 |
|
NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296
|
|
G
|
Cel
|
carboxyl ester lipase
|
|
ISO
|
DNA:deletion:exon ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar RGD |
PMID:25741868 PMID:16369531 |
RGD:2313964 |
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
|
|
G
|
Chi3l1
|
chitinase 3 like 1
|
|
ISO
|
protein:increased secretion:plasma (human)
|
RGD |
PMID:21143859 |
RGD:4892628 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
|
|
G
|
Cisd2
|
CDGSH iron sulfur domain 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
|
|
G
|
Clps
|
colipase
|
susceptibility
|
ISO
|
DNA:polymorphism:exon:p.R109C (human)
|
RGD |
PMID:16189801 |
RGD:2314627 |
NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689
|
|
G
|
Cmip
|
c-Maf-inducing protein
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
|
|
G
|
Cnksr2
|
connector enhancer of kinase suppressor of Ras 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr X:36,908,135...37,148,337
Ensembl chr X:36,907,850...37,150,555
|
|
G
|
Cnr1
|
cannabinoid receptor 1
|
|
ISO
|
|
RGD |
PMID:18678611 |
RGD:2314632 |
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
|
|
G
|
Col3a1
|
collagen type III alpha 1 chain
|
|
IEP
|
|
RGD |
PMID:20836762 |
RGD:7257556 |
NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
|
|
G
|
Cp
|
ceruloplasmin
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:19834873 |
RGD:2314681 |
NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075
|
|
G
|
Cpb2
|
carboxypeptidase B2
|
|
ISO
|
protein:increased expression, increased activity:plasma
|
RGD |
PMID:11836301 |
RGD:2313645 |
NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556
|
|
G
|
Cpe
|
carboxypeptidase E
|
onset no_association
|
ISO
|
DNA:SNP:cds (rs1583645) (human)
|
RGD |
PMID:11462236 PMID:23776430 PMID:9662053 |
RGD:1626183, RGD:405650683, RGD:1626184 |
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
|
|
G
|
Cpt1a
|
carnitine palmitoyltransferase 1A
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16123366 PMID:19553925 |
RGD:2311344 |
NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:200,565,613...200,627,055
|
|
G
|
Crhr1
|
corticotropin releasing hormone receptor 1
|
|
IEP
|
mRNA:decreased expression:hypothalamus (rat)
|
RGD |
PMID:20472052 |
RGD:5507823 |
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
|
|
G
|
Crp
|
C-reactive protein
|
|
ISO
|
|
RGD |
PMID:16764962 |
RGD:9491772 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
|
|
G
|
Crtc2
|
CREB regulated transcription coactivator 2
|
treatment
|
IMP
|
|
RGD |
PMID:23595987 PMID:19706791 |
RGD:9685169, RGD:9685172 |
NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
|
|
G
|
Cst3
|
cystatin C
|
|
ISO
|
protein:increased expression:serum (human)
|
RGD |
PMID:19887833 |
RGD:2314295 |
NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822
|
|
G
|
Ctf1
|
cardiotrophin 1
|
|
ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
|
MouseDO |
|
|
NCBI chr 1:191,758,512...191,771,259
Ensembl chr 1:182,328,090...182,333,335
|
|
G
|
Ctsb
|
cathepsin B
|
|
ISO
|
mRNA:decreased expression:pancreatic islet (human)
|
RGD |
PMID:19367387 |
RGD:2315527 |
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
|
|
G
|
Ctsl
|
cathepsin L
|
susceptibility
|
ISO
|
mRNA:increased expression:gastrocnemius muscle (mouse) protein:increased expression:right auricular appendage (human)
|
RGD |
PMID:12941783 PMID:19074676 |
RGD:2315625, RGD:2315622 |
NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
|
|
G
|
Cxcl10
|
C-X-C motif chemokine ligand 10
|
|
ISO
|
|
RGD |
PMID:19187771 |
RGD:2311356 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
|
|
G
|
Cxcl12
|
C-X-C motif chemokine ligand 12
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:18451752 |
RGD:2306553 |
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
|
|
G
|
Cyb5r4
|
cytochrome b5 reductase 4
|
|
ISO ISS
|
DNA:deletion:intron:IVSV+7TC (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
|
MouseDO RGD |
PMID:15504981 |
RGD:2315647 |
NCBI chr 8:87,975,596...88,048,356
Ensembl chr 8:87,981,116...88,045,832
|
|
G
|
Cyba
|
cytochrome b-245 alpha chain
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15531508 |
|
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
|
|
G
|
Cyp11a1
|
cytochrome P450, family 11, subfamily a, polypeptide 1
|
|
IEP
|
mRNA:decreased expression:testis, Leydig cell (rat)
|
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:58,404,669...58,434,338
|
|
G
|
Cyp11b2
|
cytochrome P450, family 11, subfamily b, polypeptide 2
|
|
ISO
|
DNA:polymorphism:promoter:-344C>T (human)
|
RGD |
PMID:18771471 |
RGD:2307288 |
NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004
|
|
G
|
Cyp11b3
|
cytochrome P450, family 11, subfamily b, polypeptide 3
|
|
ISO
|
DNA:polymorphism:promoter:-344C>T (human)
|
RGD |
PMID:18771471 |
RGD:2307288 |
NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048
|
|
G
|
Cyp1a1
|
cytochrome P450, family 1, subfamily a, polypeptide 1
|
|
ISO
|
DNA:polymorphism:3' UTR:5639T>C (human)
|
RGD |
PMID:11996959 |
RGD:2307073 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
|
|
G
|
Cyp1a2
|
cytochrome P450, family 1, subfamily a, polypeptide 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22244987 |
|
NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312
|
|
G
|
Cyp2c6
|
cytochrome P450, family 2, subfamily C, polypeptide 6
|
treatment
|
IEP
|
|
RGD |
PMID:32742601 |
RGD:124713564 |
NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596
|
|
G
|
Cyp2e1
|
cytochrome P450, family 2, subfamily e, polypeptide 1
|
|
ISO IEP
|
mRNA:increased expression:leukocyte mRNA:decreased expression:liver mRNA, protein:decreased expression:liver
|
RGD |
PMID:12534643 PMID:10049703 PMID:10679205 |
RGD:2313686, RGD:2313688, RGD:2313687 |
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
|
|
G
|
Cyp3a2
|
cytochrome P450, family 3, subfamily a, polypeptide 2
|
|
EXP
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22244987 |
|
NCBI chr12:14,321,771...14,343,886
Ensembl chr12:9,015,383...9,285,008
|
|
G
|
Cyp3a23-3a1
|
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1
|
|
EXP
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22244987 |
|
NCBI chr12:14,369,950...14,398,803
Ensembl chr12:9,254,475...9,285,030 Ensembl chr12:9,254,475...9,285,030
|
|
G
|
Dag1
|
dystroglycan 1
|
|
IEP
|
protein:decreased expression:skeletal muscle
|
RGD |
PMID:16323284 |
RGD:1581689 |
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325
|
|
G
|
Dcn
|
decorin
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:18414424 |
RGD:2311410 |
NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270
|
|
G
|
Dcx
|
doublecortin
|
|
IEP
|
protein:decreased expression:dentate gyrus
|
RGD |
PMID:18982449 |
RGD:12904763 |
NCBI chr X:112,227,455...112,370,291
Ensembl chr X:107,430,767...107,507,476
|
|
G
|
Defb1
|
defensin beta 1
|
|
IEP
|
|
RGD |
PMID:14521940 |
RGD:4892271 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
|
|
G
|
Dgkd
|
diacylglycerol kinase, delta
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
|
|
G
|
Dio2
|
iodothyronine deiodinase 2
|
no_association
|
ISO
|
DNA:SNP: :rs225014, p.T92A (human)
|
RGD |
PMID:17077128 |
RGD:1626439 |
NCBI chr 6:115,396,308...115,410,594
Ensembl chr 6:109,665,523...109,679,809
|
|
G
|
Dll3
|
delta like canonical Notch ligand 3
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:83,562,014...83,569,750
|
|
G
|
Dnm1l
|
dynamin 1-like
|
treatment
|
IEP
|
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482
|
|
G
|
Dnmt1
|
DNA methyltransferase 1
|
|
IEP
|
mRNA:increased expression:liver:
|
RGD |
PMID:21818837 |
RGD:7207079 |
NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659
|
|
G
|
Dpp4
|
dipeptidylpeptidase 4
|
|
ISO
|
|
RGD |
PMID:19705345 |
RGD:2313700 |
NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:46,962,243...47,043,901
|
|
G
|
Drd2
|
dopamine receptor D2
|
|
ISO
|
DNA:polymorphism:exon:32806C>T (human)
|
RGD |
PMID:18834717 |
RGD:2311601 |
NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875
|
|
G
|
Dyrk1b
|
dual specificity tyrosine phosphorylation regulated kinase 1B
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:83,479,147...83,487,169
|
|
G
|
Ece1
|
endothelin converting enzyme 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16387788 |
|
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
|
|
G
|
Ech1
|
enoyl-CoA hydratase 1
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
|
|
G
|
Edn1
|
endothelin 1
|
|
ISO IEP
|
mRNA:increased expression:blood vessel endothelial cell CTD Direct Evidence: marker/mechanism protein:increased expression:mesenteric artery
|
CTD RGD |
PMID:16387788 PMID:19581418 PMID:19286964 |
RGD:2313278, RGD:2313280 |
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
|
|
G
|
Ednra
|
endothelin receptor type A
|
|
IEP ISO
|
protein:increased expression:mesenteric artery CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16387788 PMID:19286964 |
RGD:2313280 |
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049
|
|
G
|
Ednrb
|
endothelin receptor type B
|
|
IDA ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16387788 PMID:19286964 |
RGD:2313280 |
NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115
|
|
G
|
Egfr
|
epidermal growth factor receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22238402 |
|
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
|
|
G
|
Eid2
|
EP300 interacting inhibitor of differentiation 2
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,538,274...83,539,599
|
|
G
|
Eid2b
|
EP300 interacting inhibitor of differentiation 2B
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
|
|
G
|
Eif3f
|
eukaryotic translation initiation factor 3, subunit F
|
|
IEP
|
|
RGD |
PMID:12875716 |
RGD:10755506 |
NCBI chr 1:162,934,220...162,943,204
Ensembl chr 1:162,934,212...162,943,204
|
|
G
|
Enpp1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ISO
|
NIDDM,OMIM:125853;DNA:polymorphism ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD RGD |
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29244957 PMID:29979387 PMID:33005041 PMID:34609116 PMID:35738466 PMID:16025115 More...
|
RGD:1601042 |
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715
|
|
G
|
Ep300
|
E1A binding protein p300
|
|
ISO
|
protein:increased serine phosphorylation:renal glomerulus (mouse)
|
RGD |
PMID:23737551 |
RGD:7257568 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
|
|
G
|
Epas1
|
endothelial PAS domain protein 1
|
|
IEP
|
|
RGD |
PMID:17914354 |
RGD:10395377 |
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
|
|
G
|
Epc2
|
enhancer of polycomb homolog 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr 3:33,867,219...33,967,908
Ensembl chr 3:33,867,219...33,967,150
|
|
G
|
Epo
|
erythropoietin
|
|
ISO
|
mRNA:increased expression:retina protein:decreased expression:plasma
|
RGD |
PMID:16936148 PMID:16911620 |
RGD:2313840, RGD:2313842 |
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
|
|
G
|
Esr1
|
estrogen receptor 1
|
|
ISO
|
DNA:polymorphism DNA:SNPs:introns: rs3020314, rs985694, rs1884051 (human)
|
RGD |
PMID:17097034 PMID:18854778 |
RGD:2314012, RGD:2314003 |
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
|
|
G
|
Esrra
|
estrogen related receptor, alpha
|
no_association
|
ISO
|
|
RGD |
PMID:16755280 |
RGD:1625637 |
NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:204,104,101...204,114,268
|
|
G
|
Ets1
|
ETS proto-oncogene 1, transcription factor
|
|
ISO
|
protein:increased expression:nucleus CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:30718926 PMID:19225563 PMID:19225563 |
RGD:2313847, RGD:2313847 |
NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:31,045,945...31,168,010
|
|
G
|
F12
|
coagulation factor XII
|
|
ISO
|
protein:increased activity:plasma (human)
|
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530
|
|
G
|
F2
|
coagulation factor II, thrombin
|
|
ISO
|
protein:increased expression:plasma associated with Myocardial Infarction
|
RGD |
PMID:17971179 PMID:18487475 |
RGD:2313852, RGD:2313851 |
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
|
|
G
|
F3
|
coagulation factor III, tissue factor
|
|
ISO
|
protein:increased activity:plasma
|
RGD |
PMID:17785358 |
RGD:2312381 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
|
|
G
|
F7
|
coagulation factor VII
|
susceptibility no_association
|
ISO IDA
|
protein:increased activity:plasma (human) associated with Brain Infarction; protein:increased activity:plasma (human) associated with Kidney Failure; protein:increased expression:plasma (human)
|
RGD |
PMID:10332679 PMID:11137328 PMID:14614217 PMID:11689270 PMID:17785358 PMID:18000605 PMID:15860378 More...
|
RGD:2312388, RGD:2312386, RGD:2312394, RGD:2312382, RGD:2312381, RGD:2312380, RGD:2312383 |
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
|
|
G
|
F8
|
coagulation factor VIII
|
|
ISO
|
protein:increased activity:plasma (human)
|
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857
|
|
G
|
F9
|
coagulation factor IX
|
|
ISO
|
protein:increased activity:plasma (human)
|
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr X:143,388,642...143,433,143
Ensembl chr X:138,352,298...138,396,835
|
|
G
|
Fabp2
|
fatty acid binding protein 2
|
no_association
|
ISO
|
ClinVar Annotator: match by term: FABP2 POLYMORPHISM
|
ClinVar RGD |
PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 PMID:14666368 PMID:15572430 PMID:25741868 PMID:16919542 More...
|
RGD:1626401 |
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
|
|
G
|
Fabp3
|
fatty acid binding protein 3
|
susceptibility
|
ISO
|
DNA:deletion:3' utr:c.634+483delT (human)
|
RGD |
PMID:12872269 |
RGD:1578461 |
NCBI chr 5:147,936,027...147,942,870
Ensembl chr 5:142,651,956...142,658,718
|
|
G
|
Fam234a
|
family with sequence similarity 234, member A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488
|
|
G
|
Fas
|
Fas cell surface death receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
|
|
G
|
Faslg
|
Fas ligand
|
|
ISO
|
DNA:repeats:3' utr (human)
|
RGD |
PMID:16691186 |
RGD:2315750 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
|
|
G
|
Fbl
|
fibrillarin
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
|
|
G
|
Fbn1
|
fibrillin 1
|
|
IEP
|
|
RGD |
PMID:20836762 |
RGD:7257556 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
|
|
G
|
Fbxo17
|
F-box protein 17
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,002,276...84,024,455
Ensembl chr 1:84,002,267...84,024,453
|
|
G
|
Fbxo27
|
F-box protein 27
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,965,426...83,987,781
Ensembl chr 1:83,965,986...83,987,778
|
|
G
|
Fcgbp
|
Fc gamma binding protein
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
|
|
G
|
Fem1b
|
fem-1 homolog B
|
|
ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
|
MouseDO |
|
|
NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
|
|
G
|
Ffar1
|
free fatty acid receptor 1
|
ameliorates
|
ISO
|
|
RGD |
PMID:19401434 PMID:19758793 |
RGD:150517551, RGD:2315761 |
NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272
|
|
G
|
Fga
|
fibrinogen alpha chain
|
|
ISO
|
protein:increased activity:plasma (human)
|
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 2:170,672,169...170,679,572
Ensembl chr 2:168,374,120...168,381,528
|
|
G
|
Fgb
|
fibrinogen beta chain
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 2:170,693,966...170,700,875
Ensembl chr 2:168,394,916...168,405,979
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|
G
|
Fgf2
|
fibroblast growth factor 2
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:18279437 |
RGD:2315844 |
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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|
G
|
Fgf21
|
fibroblast growth factor 21
|
treatment
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD RGD |
PMID:26797127 PMID:21293445 |
RGD:10401914 |
NCBI chr 1:105,219,825...105,221,376
Ensembl chr 1:96,083,441...96,090,454
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|
G
|
Fgfr1
|
Fibroblast growth factor receptor 1
|
|
ISO
|
|
RGD |
PMID:22174314 |
RGD:10401888 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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|
G
|
Fgg
|
fibrinogen gamma chain
|
|
ISO
|
protein:increased activity:plasma (human)
|
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:168,355,013...168,362,322
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|
G
|
Flt1
|
Fms related receptor tyrosine kinase 1
|
|
ISO
|
mRNA, protein:decreased expression:skeletal muscle
|
RGD |
PMID:17823371 |
RGD:2313719 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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|
G
|
Foxa2
|
forkhead box A2
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no_association
|
ISO
|
DNA:missense mutation:p.A86T (human) DNA:transversion, transitions:promoter, exon:multiple DNA:SNP, repeat: :rs1055080 (human)
|
RGD |
PMID:11043867 PMID:10868949 PMID:18797817 |
RGD:2313245, RGD:2313246, RGD:2313242 |
NCBI chr 3:155,923,305...155,927,508
Ensembl chr 3:135,470,131...135,474,326
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|
G
|
Foxc2
|
forkhead box C2
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no_association
|
ISO
|
DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T DNA:insertion:1006insA
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RGD |
PMID:12540636 PMID:15523639 |
RGD:1601220, RGD:1601217 |
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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|
G
|
Foxm1
|
forkhead box M1
|
|
ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
|
MouseDO |
|
|
NCBI chr 4:163,325,628...163,338,100
Ensembl chr 4:161,638,816...161,650,684
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|
G
|
Foxo1
|
forkhead box O1
|
treatment
|
ISO
|
protein:altered localization:nucleus, islet cell:
|
RGD |
PMID:22417654 PMID:20736318 |
RGD:10044264, RGD:10044265 |
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
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|
G
|
Frzb
|
frizzled-related protein
|
|
ISO
|
protein, decreased expression:skeletal muscle, serum (human)
|
RGD |
PMID:28240822 |
RGD:32716394 |
NCBI chr 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208
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|
G
|
Fto
|
FTO, alpha-ketoglutarate dependent dioxygenase
|
no_association susceptibility
|
ISO IEP
|
CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood DNA:SNPs: :multiple DNA:SNP:intron:rs9939609 (human) DNA:SNP: :rs1421085 (human) DNA:SNP: :rs9939609 (human) DNA:SNP: :rs17817449 (human)
|
CTD RGD |
PMID:23104008 PMID:25303482 PMID:29410390 PMID:28890888 PMID:32061761 PMID:21294771 PMID:29154870 More...
|
RGD:329951010, RGD:329901856, RGD:329901773, RGD:329901771, RGD:329901762, RGD:329813082 |
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
|
|
G
|
Fuca1
|
alpha-L-fucosidase 1
|
|
ISO
|
protein:increased activity:serum
|
RGD |
PMID:16176171 |
RGD:2315931 |
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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|
G
|
Fxn
|
frataxin
|
no_association
|
ISO
|
DNA:repeats:intron:GAA (human)
|
RGD |
PMID:10102715 PMID:9588463 |
RGD:2307051, RGD:2307050 |
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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|
G
|
G6pc1
|
glucose-6-phosphatase catalytic subunit 1
|
|
ISO IDA
|
protein:increased activity:liver
|
RGD |
PMID:8865366 PMID:10866049 PMID:16396963 |
RGD:728661, RGD:2315966, RGD:2315959 |
NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,257,668...86,333,804
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|
G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
|
ISO
|
protein:decreased expression:reticulocyte, erythrocyte
|
RGD |
PMID:12853069 |
RGD:2307349 |
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801
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|
G
|
Gadd45gip1
|
GADD45G interacting protein 1
|
|
ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
|
MouseDO |
|
|
NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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|
G
|
Gal
|
galanin and GMAP prepropeptide
|
|
ISO
|
protein:increased expression:blood
|
RGD |
PMID:15735230 |
RGD:2313738 |
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
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|
G
|
Gapdh
|
glyceraldehyde-3-phosphate dehydrogenase
|
|
ISO
|
protein:decreased acetylation
|
RGD |
PMID:28258188 |
RGD:13792662 |
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
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|
G
|
Gcg
|
glucagon
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23466488 |
|
NCBI chr 3:67,522,489...67,531,533
Ensembl chr 3:47,113,914...47,122,929
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|
G
|
Gcgr
|
glucagon receptor
|
|
ISO
|
DNA:mutation:exon:G40S ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar RGD |
PMID:7773293 PMID:8563746 PMID:25741868 PMID:28492532 PMID:7773293 |
RGD:1625208 |
NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640
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|
G
|
Gch1
|
GTP cyclohydrolase 1
|
|
ISO
|
DNA:SNPs,haplotypes: :multiple
|
RGD |
PMID:25369080 |
RGD:329961331 |
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698
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|
G
|
Gck
|
glucokinase
|
no_association treatment
|
ISO ISS IDA
|
DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 CTD Direct Evidence: marker/mechanism DNA:polymorphisms::significant association between alleles of two SSLPs and T2DM in a Japanese population (human) protein:altered localization:hepatocyte:impaired translocation from nucleus to cytoplasm in Zucker diabetic fatty rats MODY2, OMIM:125851;DNA:point mutation:E279X DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians (human)
|
ClinVar MouseDO CTD OMIM RGD |
PMID:1360036 PMID:1397713 PMID:1502186 PMID:2555564 PMID:7553875 PMID:8068341 PMID:8094163 PMID:8094164 PMID:8096296 PMID:8168652 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8495817 PMID:8897004 PMID:9000695 PMID:9049484 PMID:9075802 PMID:9078243 PMID:9435328 PMID:9536098 PMID:9736233 PMID:9867845 PMID:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10753050 PMID:11315828 PMID:11372010 PMID:11508276 PMID:11553210 PMID:11692182 PMID:11942313 PMID:12050210 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:15102714 PMID:15161764 PMID:15305805 PMID:15448103 PMID:15580558 PMID:15657605 PMID:15677479 PMID:15841481 PMID:15928245 PMID:16059790 PMID:16123366 PMID:16173921 PMID:16199547 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16731834 PMID:16938872 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17186219 PMID:17204055 PMID:17230658 PMID:17389332 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18271687 PMID:18322640 PMID:18382660 PMID:18399931 PMID:18411240 PMID:18481947 PMID:19002431 PMID:19069349 PMID:19187021 PMID:19309449 PMID:19515026 PMID:19564454 PMID:19790256 PMID:20081858 PMID:20301620 PMID:20337973 PMID:21104275 PMID:21348868 PMID:21437567 PMID:21521320 PMID:21569204 PMID:21604084 PMID:21696527 PMID:21720051 PMID:21831042 PMID:21921030 PMID:22028181 PMID:22060211 PMID:22291974 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22525692 PMID:22611063 PMID:22761713 PMID:22773699 PMID:22820548 PMID:23275527 PMID:23295287 PMID:23295292 PMID:23306198 PMID:23771172 PMID:23771925 PMID:23890519 PMID:24033266 PMID:24097065 PMID:24323243 PMID:24430320 PMID:24518839 PMID:24549415 PMID:24568320 PMID:24578721 PMID:24660669 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25723349 PMID:25741868 PMID:25850297 PMID:26123671 PMID:26467025 PMID:26552609 PMID:26587058 PMID:26641800 PMID:27080136 PMID:27185633 PMID:27256595 PMID:27269892 PMID:27271189 PMID:27913849 PMID:28012402 PMID:28170077 PMID:28492532 PMID:28555465 PMID:28663157 PMID:28701371 PMID:28726111 PMID:28842611 PMID:29056535 PMID:29207974 PMID:29510678 PMID:29704611 PMID:29777474 PMID:29927023 PMID:30155490 PMID:30191644 PMID:30245511 PMID:30257192 PMID:30259503 PMID:30447144 PMID:30590153 PMID:30592380 PMID:30656436 PMID:30663027 PMID:31063852 PMID:31197960 PMID:31216263 PMID:31291970 PMID:31529753 PMID:31576961 PMID:31638168 PMID:31956423 PMID:31957151 PMID:31968686 PMID:32017842 PMID:32041611 PMID:32074423 PMID:32375122 PMID:32533152 PMID:32741144 PMID:32792356 PMID:33046911 PMID:33129248 PMID:33294763 PMID:33477506 PMID:33565752 PMID:33852230 PMID:34023340 PMID:34108472 PMID:34393998 PMID:34440516 PMID:34496959 PMID:34556497 PMID:34686905 PMID:34746319 PMID:35229243 PMID:35472491 PMID:35592779 PMID:35737141 PMID:36178555 PMID:36208343 PMID:36227502 PMID:36257325 PMID:36400171 PMID:36418577 PMID:36504295 PMID:36613572 PMID:37008541 PMID:37101203 PMID:38054414 PMID:38627865 PMID:8200206 PMID:22234649 PMID:8325445 PMID:15138155 PMID:1570017 PMID:8314445 More...
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RGD:2301887, RGD:7488969, RGD:2301889, RGD:1582633, RGD:1601292, RGD:2301883 |
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
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|
G
|
Gckr
|
glucokinase regulator
|
|
ISO
|
DNA:polymorphism: :rs780094 (human) CTD Direct Evidence: marker/mechanism DNA:SNP::rs1260326(human)
|
CTD RGD |
PMID:20081858 PMID:19241058 PMID:21411509 PMID:11473043 PMID:18556336 |
RGD:2315983, RGD:7242280, RGD:2315986, RGD:2315985 |
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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|
G
|
Gclc
|
glutamate-cysteine ligase, catalytic subunit
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:32715377 |
|
NCBI chr 8:87,510,251...87,548,896
Ensembl chr 8:78,630,127...78,668,544
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|
G
|
Gclm
|
glutamate cysteine ligase, modifier subunit
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:32715377 |
|
NCBI chr 2:213,032,135...213,052,192
Ensembl chr 2:210,347,482...210,367,535
|
|
G
|
Gfpt1
|
glutamine fructose-6-phosphate transaminase 1
|
|
ISO
|
|
RGD |
PMID:17574229 |
RGD:2313352 |
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
|
|
G
|
Gfpt2
|
glutamine-fructose-6-phosphate transaminase 2
|
susceptibility
|
ISO
|
DNA:missense mutation, SNPs:exon, 3' utr:multiple
|
RGD |
PMID:14764791 |
RGD:2307362 |
NCBI chr10:34,115,005...34,161,329
Ensembl chr10:34,115,052...34,161,329
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|
G
|
Ggt1
|
gamma-glutamyltransferase 1
|
|
ISO
|
|
RGD |
PMID:19936701 |
RGD:2315593 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
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|
G
|
Gh1
|
growth hormone 1
|
treatment
|
IEP
|
|
RGD |
PMID:26379831 |
RGD:11352744 |
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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|
G
|
Ghr
|
growth hormone receptor
|
|
ISO
|
DNA:deletion:exon (human)
|
RGD |
PMID:17537658 |
RGD:2307363 |
NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735
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|
G
|
Ghrl
|
ghrelin and obestatin prepropeptide
|
susceptibility
|
ISO
|
DNA:polymorphism: :p.L72M (human)
|
RGD |
PMID:18848536 |
RGD:2313749 |
NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
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|
G
|
Gip
|
gastric inhibitory polypeptide
|
|
ISO IDA
|
disease in rat treated with human protein
|
RGD |
PMID:18937625 PMID:19056762 PMID:19473824 PMID:19126188 |
RGD:2312589, RGD:2312529, RGD:2312587, RGD:2312591 |
NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
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|
G
|
Gipr
|
gastric inhibitory polypeptide receptor
|
|
ISO IAGP
|
protein:decreased expression:pancreatic islet (human)
|
RGD |
PMID:19386626 PMID:11334402 |
RGD:2312454, RGD:68929 |
NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
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|
G
|
Gja1
|
gap junction protein, alpha 1
|
|
IEP
|
protein:increased phosphorylation:kidney
|
RGD |
PMID:21573906 |
RGD:7207393 |
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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|
G
|
Glis3
|
GLIS family zinc finger 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22158537 |
|
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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|
G
|
Glo1
|
glyoxalase 1
|
|
ISO
|
DNA:point mutation: :c.332A>C (human)
|
RGD |
PMID:18413187 |
RGD:7242567 |
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
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|
G
|
Glp1r
|
glucagon-like peptide 1 receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
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|
G
|
Gmfg
|
glia maturation factor, gamma
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,728,797...83,739,189
Ensembl chr 1:83,728,776...83,739,183
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|
G
|
Gnb3
|
G protein subunit beta 3
|
|
ISO
|
DNA:polymorphism: :825C>T (human) CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:12511541 PMID:18656447 |
RGD:2313204 |
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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|
G
|
Gp2
|
glycoprotein 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr 1:173,797,057...173,812,619
Ensembl chr 1:173,797,057...173,812,619
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|
G
|
Gp6
|
glycoprotein VI
|
|
ISO
|
protein:increased expression:plasma (human) associated with intermediate coronary syndrome;DNA:missense mutation:CDS: (rs1671152) (human)
|
RGD |
PMID:33859620 PMID:33076381 |
RGD:401794568, RGD:401794569 |
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
|
|
G
|
Gpd2
|
glycerol-3-phosphate dehydrogenase 2
|
susceptibility
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GPD2-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
CTD ClinVar OMIM |
PMID:9070847 PMID:16123366 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
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|
G
|
Gpt
|
glutamic--pyruvic transaminase
|
|
IEP
|
protein:increased expression, activity:liver:
|
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:108,416,642...108,419,494
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|
G
|
Gpt2
|
glutamic--pyruvic transaminase 2
|
|
IEP
|
protein:increased expression, activity:liver:
|
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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|
G
|
Gpx1
|
glutathione peroxidase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 PMID:23795780 |
|
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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|
G
|
Gpx3
|
glutathione peroxidase 3
|
treatment
|
ISO
|
protein:decreased expression:plasma (human)
|
RGD |
PMID:18936159 PMID:24102912 |
RGD:2312632, RGD:401827847 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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|
G
|
Grb14
|
growth factor receptor bound protein 14
|
susceptibility
|
ISO
|
CTD Direct Evidence: marker/mechanism associated with Environmental Illness; DNA:SNP:: (rs13389219) (Human)
|
CTD RGD |
PMID:21874001 PMID:27281273 |
RGD:401850598 |
NCBI chr 3:69,976,331...70,091,921
Ensembl chr 3:49,568,210...49,683,889
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|
G
|
Gsk3b
|
glycogen synthase kinase 3 beta
|
treatment
|
ISO IEP
|
|
RGD |
PMID:20821187 PMID:27164497 |
RGD:10045562, RGD:13792739 |
NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646
|
|
G
|
Gstm1
|
glutathione S-transferase mu 1
|
no_association susceptibility
|
ISO
|
CTD Direct Evidence: marker/mechanism DNA:deletion: :
|
CTD RGD |
PMID:22652274 PMID:16413497 PMID:20739761 PMID:17979505 |
RGD:2306628, RGD:5490963, RGD:2306627 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
|
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G
|
Gstp1
|
glutathione S-transferase pi 1
|
susceptibility
|
ISO
|
DNA:polymorphism:exon:p.I105V (rs1695) (human)
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RGD |
PMID:20739761 |
RGD:5490963 |
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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G
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Gstt1
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glutathione S-transferase theta 1
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susceptibility
|
ISO
|
|
RGD |
PMID:17979505 |
RGD:2306627 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G
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H19
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H19 imprinted maternally expressed transcript
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sexual_dimorphism
|
ISO
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RNA:decrased expression:blood serum (human)
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RGD |
PMID:33116722 |
RGD:243048436 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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|
G
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Hba-a2
|
hemoglobin alpha, adult chain 2
|
|
ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16632892 |
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NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392 Ensembl chr10:15,307,815...15,338,392
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|
G
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Hdac1
|
histone deacetylase 1
|
|
ISO
|
protein:increased activity:kidney:
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RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111
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|
G
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Hdac2
|
histone deacetylase 2
|
|
ISO
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protein:increased activity:kidney:
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RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
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|
G
|
Hectd4
|
HECT domain E3 ubiquitin protein ligase 4
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:35713687 |
|
NCBI chr12:35,182,165...35,330,935
Ensembl chr12:35,182,154...35,330,987
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|
G
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Hfe
|
homeostatic iron regulator
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susceptibility
|
ISO
|
DNA:missense mutation:cds:p.H63D (human) associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human)
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RGD |
PMID:20097100 PMID:30291871 |
RGD:8694381, RGD:14701045 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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|
G
|
Hhex
|
hematopoietically expressed homeobox
|
|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23104008 |
|
NCBI chr 1:244,602,945...244,608,532
Ensembl chr 1:235,190,455...235,196,042
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|
G
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Hif1a
|
hypoxia inducible factor 1 subunit alpha
|
susceptibility
|
IEP ISO
|
protein:increased expression:heart blood vessel associated with Breast Neoplasms;protein:increased expression:serum (human) DNA:missense mutation:cds:p.P582S (human)
|
RGD |
PMID:12234789 PMID:17914354 PMID:23244125 PMID:16046581 |
RGD:625730, RGD:10395377, RGD:8695972, RGD:8695936 |
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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|
G
|
Hipk4
|
homeodomain interacting protein kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
|
|
G
|
Hk1
|
hexokinase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131
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|
G
|
Hk2
|
hexokinase 2
|
|
ISO
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mRNA:decreased expression:epididymal fat pad, quadriceps
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RGD |
PMID:11319725 PMID:7813813 |
RGD:2313227, RGD:2313229 |
NCBI chr 4:116,792,258...116,841,275
Ensembl chr 4:115,234,509...115,283,530
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|
G
|
Hmg20a
|
high mobility group 20A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21874001 |
|
NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656
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|
G
|
Hmga1
|
high mobility group AT-hook 1
|
susceptibility
|
ISO ISS
|
CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to
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CTD MouseDO OMIM ClinVar |
PMID:15924147 PMID:21364139 PMID:23512162 |
|
NCBI chr20:5,612,902...5,620,596
Ensembl chr20:5,611,694...5,618,752
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|
G
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Hmgcr
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3-hydroxy-3-methylglutaryl-CoA reductase
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|
ISO IMP
|
DNA:polymorphism (human)
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RGD |
PMID:17870053 PMID:15312879 |
RGD:2313753, RGD:2313759 |
NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703
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|
G
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Hmox1
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heme oxygenase 1
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treatment
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ISO IEP
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DNA:repeat:promoter CTD Direct Evidence: marker/mechanism|therapeutic associated with Obesity
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CTD RGD |
PMID:12136229 PMID:16123366 PMID:16959961 PMID:17991645 PMID:23731386 |
RGD:10755699, RGD:8695927 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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|
G
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Hnf1a
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HNF1 homeobox A
|
susceptibility onset
|
ISO ISS
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DNA:deletions:exon:multiple ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 associated with nicotine dependence; DNA:SNP:cds: p.G319S (human) ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) (human) DNA:nonsense mutations, missense mutations: :multiple Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple
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ClinVar MouseDO CTD OMIM RGD |
PMID:7842064 PMID:8945470 PMID:9075818 PMID:9112026 PMID:9133564 PMID:9287053 PMID:9313764 PMID:9392505 PMID:9604876 PMID:9754819 PMID:9867222 PMID:10084598 PMID:10333057 PMID:10588527 PMID:10634407 PMID:10843190 PMID:10852449 PMID:10966642 PMID:11058894 PMID:11296231 PMID:11393552 PMID:11904371 PMID:11942313 PMID:12355088 PMID:12359128 PMID:12574234 PMID:12627330 PMID:12675668 PMID:12788852 PMID:12832318 PMID:15031772 PMID:15649945 PMID:15657605 PMID:15761192 PMID:15883474 PMID:15928245 PMID:16186275 PMID:16241915 PMID:16917892 PMID:16963153 PMID:17033837 PMID:17062882 PMID:17116178 PMID:17192490 PMID:17220065 PMID:17407072 PMID:17425917 PMID:17440016 PMID:17573900 PMID:17937063 PMID:18003757 PMID:18332101 PMID:18414213 PMID:18439552 PMID:18498634 PMID:18586913 PMID:18811724 PMID:19169489 PMID:19672314 PMID:19754856 PMID:19929997 PMID:20031592 PMID:20393147 PMID:20690076 PMID:20705777 PMID:21170474 PMID:21518407 PMID:21696527 PMID:21761282 PMID:22348187 PMID:22432108 PMID:22517943 PMID:23139355 PMID:23274891 PMID:23348805 PMID:23607861 PMID:24033266 PMID:24097065 PMID:24728327 PMID:24915262 PMID:24933231 PMID:25057215 PMID:25414397 PMID:25555642 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26431509 PMID:26467025 PMID:26981542 PMID:27035118 PMID:27080136 PMID:27130141 PMID:27148439 PMID:27458973 PMID:27899486 PMID:28105082 PMID:28395978 PMID:28453780 PMID:28492532 PMID:28701371 PMID:28869590 PMID:29207974 PMID:29376044 PMID:29758564 PMID:29844095 PMID:29895593 PMID:30155490 PMID:30191644 PMID:30202817 PMID:30293189 PMID:30455330 PMID:31109344 PMID:31264968 PMID:31365591 PMID:31385057 PMID:31485449 PMID:31517624 PMID:31566143 PMID:31576961 PMID:31638168 PMID:31673528 PMID:31844173 PMID:31968565 PMID:32041611 PMID:32238361 PMID:32355288 PMID:32395877 PMID:32741144 PMID:32910913 PMID:32928877 PMID:33046911 PMID:33363396 PMID:33477506 PMID:33651556 PMID:33889819 PMID:34668636 PMID:34803393 PMID:34825797 PMID:35218126 PMID:35299962 PMID:35328643 PMID:35673428 PMID:36208343 PMID:17828387 PMID:21208426 PMID:27087001 PMID:20716378 PMID:18332101 PMID:18003757 PMID:8945470 More...
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RGD:2301828, RGD:329901835, RGD:329901816, RGD:329901814, RGD:2301863, RGD:2301827, RGD:1601479 |
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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G
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Hnf1b
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HNF1 homeobox B
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susceptibility no_association
|
ISO
|
renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus CTD Direct Evidence: marker/mechanism|therapeutic DNA:deletions:cds:multiple (human)
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ClinVar CTD OMIM RGD |
PMID:9398836 PMID:12148114 PMID:12161522 PMID:14583183 PMID:15068978 PMID:15509593 PMID:15649945 PMID:15660195 PMID:15930087 PMID:16249435 PMID:17116179 PMID:17603485 PMID:18249217 PMID:18528323 PMID:18644064 PMID:19639018 PMID:20378641 PMID:21163139 PMID:21380624 PMID:21775974 PMID:22051731 PMID:22432796 PMID:22706971 PMID:23539225 PMID:24097065 PMID:24254850 PMID:24429398 PMID:24897035 PMID:25441779 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25705165 PMID:25741167 PMID:25741868 PMID:26340261 PMID:26467025 PMID:27234567 PMID:27615128 PMID:28215227 PMID:28420700 PMID:28453780 PMID:28492532 PMID:29764441 PMID:29927023 PMID:30143558 PMID:30191644 PMID:30476936 PMID:30481753 PMID:30548481 PMID:30655312 PMID:30666461 PMID:31198537 PMID:31291970 PMID:31498910 PMID:31825128 PMID:32041611 PMID:32266039 PMID:32708349 PMID:33046911 PMID:33434175 PMID:33532864 PMID:33663443 PMID:33851123 PMID:34974531 PMID:35643372 PMID:36208030 PMID:36549658 PMID:36613572 PMID:11317673 PMID:15883474 PMID:19417042 More...
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RGD:1601484, RGD:2312750, RGD:2312748 |
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G
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Hnf4a
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hepatocyte nuclear factor 4, alpha
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susceptibility
|
ISO IEP
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DNA:SNPs:promoter:(human) ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus mRNA:decreased expression:liver,pancreas protein:decreased expression:liver: CTD Direct Evidence: marker/mechanism DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) (human) DNA:missense mutation:exon:p.T130I type I maturity-onset diabetes of the young, OMIM:125850
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ClinVar CTD OMIM RGD |
PMID:9449683 PMID:10227563 PMID:10447526 PMID:10983627 PMID:12627330 PMID:12669197 PMID:15281001 PMID:16883527 PMID:16946562 PMID:17317762 PMID:17563455 PMID:18268044 PMID:18356407 PMID:18414213 PMID:21105491 PMID:21874001 PMID:22158537 PMID:23227446 PMID:23247789 PMID:23268925 PMID:23771925 PMID:24033266 PMID:24097065 PMID:25041077 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26981542 PMID:27080136 PMID:27420379 PMID:27884173 PMID:28492532 PMID:29355436 PMID:29792621 PMID:30191603 PMID:31264968 PMID:31595705 PMID:32418360 PMID:32583173 PMID:33846082 PMID:34373539 PMID:34805411 PMID:35052457 PMID:35118593 PMID:35256061 PMID:36208030 PMID:36257325 PMID:18728231 PMID:19252740 PMID:19179483 PMID:18332101 PMID:18028455 PMID:8945471 More...
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RGD:2301836, RGD:12904770, RGD:12904769, RGD:2301863, RGD:2301839, RGD:1601637 |
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
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G
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Hnrnpl
|
heterogeneous nuclear ribonucleoprotein L
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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G
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Hp
|
haptoglobin
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treatment
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IEP ISO
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CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:16506275 PMID:19996384 |
RGD:6483015 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G
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Hpx
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hemopexin
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16506275 |
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NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328
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G
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Hsd11b1
|
hydroxysteroid 11-beta dehydrogenase 1
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susceptibility
|
IEP ISO
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mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats DNA:SNPs:intron: (rs12086634,rs846910) (human)
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RGD |
PMID:14697232 PMID:28750217 |
RGD:1625074, RGD:329901909 |
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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G
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Hsd11b2
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hydroxysteroid 11-beta dehydrogenase 2
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|
ISO
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mRNA, protein:increased expression:skeletal muscle
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RGD |
PMID:17519316 |
RGD:2308922 |
NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899
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G
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Hsd17b3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
IEP
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mRNA:decreased expression:testis, Leydig cell (rat)
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RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr17:1,032,958...1,064,283
Ensembl chr17:1,027,229...1,058,554
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|
G
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Hsd3b1
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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
|
|
IEP
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mRNA:decreased expression:testis, Leydig cell (rat)
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RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 2:188,858,574...188,864,694
Ensembl chr 2:186,169,863...186,175,999
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G
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Hsf1
|
heat shock transcription factor 1
|
|
ISO
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protein:increased expression:heart (mouse)
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RGD |
PMID:24496227 |
RGD:10402557 |
NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011
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G
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Hspa1b
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heat shock protein family A (Hsp70) member 1B
|
|
ISO
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DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic p
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RGD |
PMID:15223990 |
RGD:1626646 |
NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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G
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Hspa4
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heat shock protein family A (Hsp70) member 4
|
|
ISO
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protein:increased expression:serum (human)
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RGD |
PMID:22349026 |
RGD:6218966 |
NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001
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|
G
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Htr2c
|
5-hydroxytryptamine receptor 2C
|
|
ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
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MouseDO |
|
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NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287
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G
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Iapp
|
islet amyloid polypeptide
|
|
ISO ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 CTD Direct Evidence: marker/mechanism protein:increased expression:pancreatic islet (human)
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MouseDO CTD RGD |
PMID:16123366 PMID:23793354 PMID:18641056 PMID:19100955 PMID:2441214 |
RGD:2313359, RGD:2311446, RGD:9686128 |
NCBI chr 4:176,968,097...176,975,363
Ensembl chr 4:175,237,115...175,242,920
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G
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Icam1
|
intercellular adhesion molecule 1
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|
IEP ISO
|
mRNA, protein:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
|
CTD RGD |
PMID:24513509 PMID:20388520 PMID:18299691 |
RGD:4145422, RGD:2312766 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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G
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Id1
|
inhibitor of DNA binding 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16123366 |
|
NCBI chr 3:161,671,525...161,672,691
Ensembl chr 3:141,211,267...141,212,419
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G
|
Ide
|
insulin degrading enzyme
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no_association
|
ISO IAGP
|
DNA:SNPs, haplotype: :rs2209972, rs1887922 (human) DNA:SNP:cds (rs6583813) (human) DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat)
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RGD |
PMID:12765971 PMID:23776430 PMID:10958757 PMID:12634421 PMID:16380485 |
RGD:1626697, RGD:405650683, RGD:737717, RGD:737718, RGD:1626698 |
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
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G
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Ifng
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interferon gamma
|
|
ISO
|
|
RGD |
PMID:18852529 |
RGD:2311491 |
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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G
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Ifnl1
|
interferon, lambda 1
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,926,184...92,927,830
Ensembl chr 1:83,798,703...83,800,235
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G
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Ifnl3
|
interferon, lambda 3
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,941,988...92,943,628
Ensembl chr 1:83,814,564...83,816,096
|
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G
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Igf1
|
insulin-like growth factor 1
|
|
IEP ISO
|
|
RGD |
PMID:18986336 PMID:16005252 |
RGD:2306690, RGD:2313767 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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G
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Igf1r
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insulin-like growth factor 1 receptor
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|
IEP
|
protein:decreased expression:pancreas protein:decreased expression:myocardium, blood vessel endothelial cell
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RGD |
PMID:17476475 PMID:18986336 |
RGD:2311504, RGD:2306690 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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G
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Igf2
|
insulin-like growth factor 2
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|
IEP ISO
|
protein:decreased expression:pancreas
|
RGD |
PMID:17476475 PMID:10727441 |
RGD:2311504, RGD:5510004 |
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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|
G
|
Igf2bp2
|
insulin-like growth factor 2 mRNA binding protein 2
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susceptibility
|
ISO
|
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to CTD Direct Evidence: marker/mechanism
|
ClinVar CTD OMIM |
PMID:17463246 PMID:17463248 PMID:17463249 |
|
NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377
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G
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Igf2r
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insulin-like growth factor 2 receptor
|
susceptibility
|
ISO
|
DNA:insertion, deletion:3' utr (human)
|
RGD |
PMID:16868148 |
RGD:2311514 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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|
G
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Igfbp3
|
insulin-like growth factor binding protein 3
|
|
ISO
|
|
RGD |
PMID:16005252 |
RGD:2313767 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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|
G
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Ikbkb
|
inhibitor of nuclear factor kappa B kinase subunit beta
|
|
ISO
|
|
RGD |
PMID:15685173 |
RGD:10045952 |
NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250
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|
G
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Il10
|
interleukin 10
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susceptibility
|
ISO
|
DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human)
|
RGD |
PMID:19031431 PMID:28843383 |
RGD:2308943, RGD:14975146 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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G
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Il13ra1
|
interleukin 13 receptor subunit alpha 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr X:120,213,670...120,294,777
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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G
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Il1b
|
interleukin 1 beta
|
susceptibility
|
ISO
|
DNA:snp:exon:g.3968C>T rs1143634 (human)
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RGD |
PMID:21205020 PMID:28843383 |
RGD:7175255, RGD:14975146 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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|
G
|
Il1rn
|
interleukin 1 receptor antagonist
|
susceptibility disease_progression no_association
|
ISO
|
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human) associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human) DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
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RGD |
PMID:17069782 PMID:21205020 PMID:8786086 |
RGD:6907409, RGD:7175255, RGD:6907412 |
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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|
G
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Il6
|
interleukin 6
|
|
IEP ISO
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mRNA:increased expression:adipose tissue ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to CTD Direct Evidence: marker/mechanism DNA, protein:SNP, increased expression:promoter:serum, -174G>C (human) protein:increased expression:extracellular space (human) DNA:polymorphism:promoter:-572C>G (human)
|
OMIM ClinVar CTD RGD |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 PMID:19084046 PMID:28303994 PMID:19175895 PMID:18573122 More...
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RGD:2307269, RGD:14975285, RGD:2307266, RGD:2307270 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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|
G
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Inppl1
|
inositol polyphosphate phosphatase-like 1
|
|
ISO
|
DNA:SNPs: :rs2276047,snp8(human) CTD Direct Evidence: marker/mechanism DNA:deletion:3' utr (human)
|
CTD RGD |
PMID:12086927 PMID:25635986 PMID:15220217 PMID:12086927 |
RGD:1626127, RGD:633161 |
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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|
G
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Ins1
|
insulin 1
|
|
ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
CTD ClinVar |
PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:19586609 PMID:20226046 PMID:20301620 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28993341 PMID:30456822 More...
|
|
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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|
G
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Ins2
|
insulin 2
|
|
ISO ISS
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 CTD Direct Evidence: marker/mechanism|therapeutic
|
ClinVar MouseDO CTD RGD |
PMID:3511099 PMID:7573102 PMID:11522680 PMID:11978674 PMID:15531508 PMID:16259526 PMID:16519038 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:20226046 PMID:20301620 PMID:21680998 PMID:21779873 PMID:23349674 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28993341 PMID:30456822 PMID:33830302 PMID:1569197 PMID:3322910 More...
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RGD:1625120, RGD:2311112 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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G
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Insr
|
insulin receptor
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treatment
|
ISO IMP IDA IEP
|
protein:increased serine phosphorylation, increased protein binding:liver ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus protein:decreased phosphorylation:vastus lateralis:phosphotyrosine (human) protein:decreased expression:kidney
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ClinVar RGD |
PMID:1607076 PMID:1845971 PMID:2040394 PMID:2884728 PMID:4413914 PMID:7814014 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 PMID:31989990 PMID:19251743 PMID:19017805 PMID:23700236 PMID:18972094 PMID:17855644 PMID:19224872 PMID:17050616 PMID:19340286 PMID:19251743 More...
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RGD:2307334, RGD:2314405, RGD:10403046, RGD:2307342, RGD:2290475, RGD:2307335, RGD:2307341, RGD:2307333, RGD:2307334 |
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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G
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Irs1
|
insulin receptor substrate 1
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susceptibility no_association
|
ISO ISS IDA
|
DNA:point mutation:exon:T608R OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: IRS1-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-446G>A, -7120G>A (human) DNA:polymorphisms: :p.P512A, p.G971R (human)
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OMIM MouseDO ClinVar CTD RGD |
PMID:8104271 PMID:8723689 PMID:10430617 PMID:11775217 PMID:12679424 PMID:15688983 PMID:19734900 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28869590 PMID:12679424 PMID:14633864 PMID:22001674 PMID:19996384 PMID:15561966 More...
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RGD:1624975, RGD:7207057, RGD:6483016, RGD:6483015, RGD:6482863 |
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
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|
G
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Irs2
|
insulin receptor substrate 2
|
|
ISO ISS
|
DNA:polymorphism:exon:G1057D ClinVar Annotator: match by term: IRS2-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 CTD Direct Evidence: marker/mechanism
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ClinVar MouseDO CTD OMIM RGD |
PMID:10525667 PMID:11030756 PMID:11473060 PMID:11600548 PMID:25741868 PMID:28492532 PMID:11030756 PMID:14617753 More...
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RGD:1625023, RGD:10045938 |
NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482
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G
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Isl1
|
ISL LIM homeobox 1
|
|
ISO IEP
|
associated with Obesity;DNA:SNP:promoter:g.-47A>G (human) mRNA,protein:decreased expression:pancreas:
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RGD |
PMID:11978668 PMID:30341898 |
RGD:2311117, RGD:243065124 |
NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584
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|
G
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Itga1
|
integrin subunit alpha 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30718926 |
|
NCBI chr 2:48,379,181...48,545,336
Ensembl chr 2:46,653,193...46,812,238
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G
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Itga2
|
integrin subunit alpha 2
|
|
ISO
|
protein:increased expression:platelet (human)
|
RGD |
PMID:15025679 |
RGD:2307425 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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|
G
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Itgam
|
integrin subunit alpha M
|
|
IEP
|
protein:increased expression:neutrophil (rat)
|
RGD |
PMID:21699626 |
RGD:329902064 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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|
G
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Itln1
|
intelectin 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23555749 |
|
NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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|
G
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Jade2
|
jade family PHD finger 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr10:36,576,187...36,625,129
Ensembl chr10:36,078,917...36,116,984
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|
G
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Jazf1
|
JAZF zinc finger 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18372903 |
|
NCBI chr 4:81,879,501...82,183,237
Ensembl chr 4:81,881,061...82,183,100
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|
G
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Kcnj11
|
potassium inwardly-rectifying channel, subfamily J, member 11
|
|
ISO IEP
|
polymorphisms in the human gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism DNA:missense mutation::p.E23K (human) DNA:SNP DNA:polymorphism: :p.E23K (human)
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ClinVar CTD RGD |
PMID:1422196 PMID:9867219 PMID:10559219 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15448107 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15855351 PMID:15998776 PMID:16123366 PMID:16166157 PMID:16332676 PMID:16357843 PMID:16455067 PMID:16670688 PMID:17021801 PMID:17114887 PMID:17257281 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:17956278 PMID:18250167 PMID:18414213 PMID:18559200 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20301620 PMID:20424228 PMID:20589481 PMID:20685672 PMID:20686794 PMID:20980454 PMID:21115269 PMID:21573802 PMID:21765448 PMID:22005014 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22289434 PMID:22311976 PMID:22512215 PMID:22591706 PMID:22619292 PMID:22701567 PMID:22704848 PMID:22831748 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23462667 PMID:23798684 PMID:24383515 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24686051 PMID:25201519 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25741914 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:26590798 PMID:26839896 PMID:27118464 PMID:27181376 PMID:27188453 PMID:27908292 PMID:28123437 PMID:28173619 PMID:28262438 PMID:28270372 PMID:28350539 PMID:28352326 PMID:28442472 PMID:28492532 PMID:28766502 PMID:28938416 PMID:29216354 PMID:29361385 PMID:29454299 PMID:29893194 PMID:30377186 PMID:31195986 PMID:31218401 PMID:32027066 PMID:32418263 PMID:32792356 PMID:32935446 PMID:33046911 PMID:33502061 PMID:33611546 PMID:33762279 PMID:33852230 PMID:33853507 PMID:34465386 PMID:34566892 PMID:35402560 PMID:36208030 PMID:15565284 PMID:24681897 PMID:17259403 PMID:19502414 PMID:19498446 More...
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RGD:2313610, RGD:12790969, RGD:2313628, RGD:2311533, RGD:2311534 |
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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|
G
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Kcnk16
|
potassium two pore domain channel subfamily K member 16
|
|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22158537 |
|
NCBI chr15:4,042,506...4,049,652
Ensembl chr15:4,042,506...4,049,652
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|
G
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Kcnmb1
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potassium calcium-activated channel subfamily M regulatory beta subunit 1
|
|
IEP
|
protein:decreased expression:aorta
|
RGD |
PMID:18790848 |
RGD:10412045 |
NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
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G
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Kcnn4
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potassium calcium-activated channel subfamily N member 4
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|
IEP
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protein:increased expression:aorta (rat)
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RGD |
PMID:21463632 |
RGD:401794561 |
NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340
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|
G
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Kcnq1
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potassium voltage-gated channel subfamily Q member 1
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susceptibility
|
ISO
|
CTD Direct Evidence: marker/mechanism associated with Environmental Illness; DNA:SNP:: (rs163184) (human)
|
CTD RGD |
PMID:18711366 PMID:18711367 PMID:26551672 PMID:27281273 |
RGD:401850598 |
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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|
G
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Kcnu1
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potassium calcium-activated channel subfamily U member 1
|
|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr16:66,141,696...66,229,493
Ensembl chr16:66,141,976...66,229,465
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G
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Kdr
|
kinase insert domain receptor
|
|
ISO
|
protein:decreased expression:skin, blood vessel
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RGD |
PMID:17898089 |
RGD:5684411 |
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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|
G
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Kif6
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kinesin family member 6
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sexual_dimorphism
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ISO
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DNA:SNP: :p.W719R (rs20455) (human)
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RGD |
PMID:25629058 |
RGD:243048454 |
NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006
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G
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Kl
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Klotho
|
|
IEP ISO
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mRNA:decreased expression:kidney: CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:28869590 PMID:23967103 |
RGD:10044235 |
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080
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G
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Klf11
|
KLF transcription factor 11
|
|
ISO
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DNA:polymorphisms: :p.Q62R, p.A347S, p.T220M (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar RGD |
PMID:15774581 PMID:18199129 PMID:25741868 PMID:28492532 PMID:34393998 PMID:15774581 More...
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RGD:2311540 |
NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
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G
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Klf14
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KLF transcription factor 14
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:29632379 |
|
NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
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G
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Kmt2d
|
lysine methyltransferase 2D
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|
ISO
|
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RGD |
PMID:23826075 |
RGD:9588237 |
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G
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Ksr2
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kinase suppressor of ras 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
CTD ClinVar |
PMID:24209692 PMID:25741868 PMID:30718926 |
|
NCBI chr12:44,462,579...44,848,555
Ensembl chr12:38,802,004...39,188,375
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G
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Lcn2
|
lipocalin 2
|
|
ISO
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protein:increased expression:serum:
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RGD |
PMID:19949414 |
RGD:126779589 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G
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Lep
|
leptin
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susceptibility
|
IMP ISS ISO
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human) CTD Direct Evidence: therapeutic
|
MouseDO CTD RGD |
PMID:15070752 PMID:19289493 PMID:18564365 |
RGD:2311130, RGD:2311139 |
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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G
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Lepr
|
leptin receptor
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susceptibility treatment
|
ISO IAGP ISS
|
DNA:insertion:3' utr (human) CTD Direct Evidence: marker/mechanism DNA:mutations:cds: : (rat) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human) DNA:polymorphisms (human)
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CTD MouseDO RGD |
PMID:20175764 PMID:22933112 PMID:24263156 PMID:26939912 PMID:39059604 PMID:17065694 PMID:32710530 PMID:22215535 PMID:23154293 PMID:16284652 PMID:18439701 More...
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RGD:2311144, RGD:401960103, RGD:14696694, RGD:13432147, RGD:10412018, RGD:2311141 |
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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G
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Leprfa
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leptin receptor; fa mutant
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IAGP
|
|
RGD |
PMID:23154293 |
RGD:13432147 |
|
|
G
|
Lgals4
|
galectin 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,124,766...84,132,481
Ensembl chr 1:84,124,764...84,132,481
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G
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Lgals5
|
galectin 5
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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G
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Lgals7
|
galectin 7
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,148,612...84,152,016
Ensembl chr 1:84,150,252...84,152,015
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G
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Lipc
|
lipase C, hepatic type
|
susceptibility
|
ISO
|
DNA:transition:promoter:-250G>A (human) ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (human)
|
ClinVar CTD OMIM RGD |
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 PMID:15126514 PMID:15656877 PMID:18364377 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25741868 PMID:25995285 PMID:28492532 PMID:28870971 PMID:30333156 PMID:32041611 PMID:15656877 PMID:16429317 More...
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RGD:2308830, RGD:2308826 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G
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Lipe
|
lipase E, hormone sensitive type
|
|
ISO
|
mRNA:decreased expression:subcutaneous adipose tissue
|
RGD |
PMID:15609025 |
RGD:2313584 |
NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:80,965,627...80,984,310
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G
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Lmna
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lamin A/C
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no_association
|
ISO
|
DNA:SNPs
|
RGD |
PMID:17327461 PMID:17327437 |
RGD:1624984, RGD:1624985 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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|
G
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Lnpep
|
leucyl and cystinyl aminopeptidase
|
|
ISO IDA
|
|
RGD |
PMID:11701721 PMID:16967782 |
RGD:2311542, RGD:2306436 |
NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
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|
G
|
Lpl
|
lipoprotein lipase
|
treatment
|
ISO IEP
|
DNA:SNP:intron:13836C>A (rs343) (human) associated with Obesity
|
RGD |
PMID:8641022 PMID:29981201 PMID:18985010 PMID:18321693 |
RGD:1580537, RGD:13793399, RGD:2313298, RGD:2313304 |
NCBI chr16:25,596,205...25,621,928
Ensembl chr16:20,829,465...20,855,249
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|
G
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Lrfn1
|
leucine rich repeat and fibronectin type III domain containing 1
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|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,742,442...83,761,450
Ensembl chr 1:83,682,964...83,761,449
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|
G
|
Lta
|
lymphotoxin alpha
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onset no_association
|
ISO
|
DNA:polymorphism: :p.T60N (human)
|
RGD |
PMID:15729581 PMID:16132956 |
RGD:1625033, RGD:2313261 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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|
G
|
Madd
|
MAP-kinase activating death domain
|
|
ISS
|
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
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MouseDO |
|
|
NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
|
|
G
|
Maea
|
macrophage erythroblast attacher, E3 ubiquitin ligase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22158537 |
|
NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
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|
G
|
Mafa
|
MAF bZIP transcription factor A
|
|
ISO ISS
|
protein:decreased expression:islet: OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 protein:decreased expression:beta cells of pancrea
|
MouseDO RGD |
PMID:24013263 PMID:20424231 |
RGD:13506742, RGD:13506745 |
NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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|
G
|
Map1lc3a
|
microtubule-associated protein 1 light chain 3 alpha
|
treatment
|
IEP
|
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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|
G
|
Map3k10
|
mitogen activated protein kinase kinase kinase 10
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:82,955,207...82,974,084
|
|
G
|
Map3k8
|
mitogen-activated protein kinase kinase kinase 8
|
|
ISO
|
protein:increased activity:serum:
|
RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216
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|
G
|
Mapk1
|
mitogen activated protein kinase 1
|
treatment
|
ISO IDA
|
protein:hypophosphorylation:pancreatic islet: protein:increased expression:dorsal horn: protein:hyperphosphorylation:pancreas:
|
RGD |
PMID:26860984 PMID:19164460 PMID:21911753 PMID:28757391 PMID:27259299 |
RGD:13506775, RGD:13506786, RGD:13506785, RGD:13506777, RGD:13506776 |
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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|
G
|
Mapk3
|
mitogen activated protein kinase 3
|
treatment
|
IDA ISO
|
protein:hypophosphorylation:pancreatic islet: protein:increased expression:dorsal horn: protein:hyperphosphorylation:pancreas:
|
RGD |
PMID:21911753 PMID:19164460 PMID:28757391 PMID:27259299 PMID:26860984 |
RGD:13506785, RGD:13506786, RGD:13506777, RGD:13506776, RGD:13506775 |
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
|
|
G
|
Mapk8
|
mitogen-activated protein kinase 8
|
|
IDA ISO
|
protein:hyperphosphorylation:pancreatic islet:
|
RGD |
PMID:21911753 PMID:21911753 |
RGD:13506785, RGD:13506785 |
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981
|
|
G
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Mapk8ip1
|
mitogen-activated protein kinase 8 interacting protein 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
OMIM CTD ClinVar |
PMID:10700186 |
|
NCBI chr 3:98,810,540...98,829,302
Ensembl chr 3:78,355,048...78,372,884
|
|
G
|
Mapk9
|
mitogen-activated protein kinase 9
|
|
IDA ISO
|
protein:hyperphosphorylation:pancreatic islet:
|
RGD |
PMID:21911753 PMID:21911753 |
RGD:13506785, RGD:13506785 |
NCBI chr10:34,670,750...34,711,972
Ensembl chr10:34,169,675...34,210,178
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|
G
|
Mat1a
|
methionine adenosyltransferase 1A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23665415 |
|
NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
|
|
G
|
Matn4
|
matrilin 4
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
|
|
NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
|
|
G
|
Med29
|
mediator complex subunit 29
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,677,961...83,683,365
Ensembl chr 1:83,677,961...83,683,365
|
|
G
|
Mfn2
|
mitofusin 2
|
|
ISO
|
mRNA:decreased expression:skeletal muscle tissue (human)
|
RGD |
PMID:16123358 |
RGD:13204820 |
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
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|
G
|
Mif
|
macrophage migration inhibitory factor
|
|
IEP
|
mRNA, protein:increased expression:kidney cortex, epithelial cell
|
RGD |
PMID:16571782 |
RGD:1641984 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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|
G
|
Mir10b
|
microRNA 10b
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
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|
G
|
Mir122
|
microRNA 122
|
|
ISO
|
miRNA:increased expression:serum
|
RGD |
PMID:27899485 |
RGD:14401601 |
NCBI chr18:58,758,703...58,758,787
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|
G
|
Mir1249
|
microRNA 1249
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 7:116,075,593...116,075,712
Ensembl chr 7:116,075,593...116,075,712
|
|
G
|
Mir125b1
|
microRNA 125b-1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr 8:50,850,036...50,850,122
Ensembl chr 8:41,952,966...41,953,052
|
|
G
|
Mir126a
|
microRNA 126a
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
|
|
G
|
Mir127
|
microRNA 127
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
|
|
G
|
Mir1306
|
microRNA 1306
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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|
G
|
Mir130b
|
microRNA 130b
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
|
|
G
|
Mir140
|
microRNA 140
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
|
|
G
|
Mir141
|
microRNA 141
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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|
G
|
Mir142
|
microRNA 142
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr10:73,055,104...73,055,190
Ensembl chr10:72,557,857...72,557,967
|
|
G
|
Mir144
|
microRNA 144
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr10:62,961,348...62,961,430
Ensembl chr10:62,961,348...62,961,430
|
|
G
|
Mir146b
|
microRNA 146b
|
|
ISO
|
RNA:increased expression:arteriole
|
RGD |
PMID:29374012 |
RGD:13702880 |
NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
|
|
G
|
Mir151
|
microRNA 151
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 7:105,172,377...105,172,473
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|
G
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Mir155
|
microRNA 155
|
|
ISO
|
miRNA:decreased expression:serum
|
RGD |
PMID:30852102 PMID:27711113 |
RGD:21079478, RGD:25671464 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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|
G
|
Mir181c
|
microRNA 181c
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628
|
|
G
|
Mir192
|
microRNA 192
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
|
|
G
|
Mir195
|
microRNA 195
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
|
|
G
|
Mir200a
|
microRNA 200a
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 5:166,648,494...166,648,582
|
|
G
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Mir204
|
microRNA 204
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
|
|
G
|
Mir205
|
microRNA 205
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr13:105,035,878...105,035,985
Ensembl chr13:105,035,878...105,035,985
|
|
G
|
Mir214
|
microRNA 214
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr13:77,121,645...77,121,752
Ensembl chr13:74,588,372...74,588,481
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|
G
|
Mir221
|
microRNA 221
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr X:6,023,182...6,023,290
Ensembl chr X:3,429,465...3,429,573
|
|
G
|
Mir222
|
microRNA 222
|
|
ISO IEP
|
CTD Direct Evidence: marker/mechanism associated with Femoral Fractures;RNA:increased expression:femur
|
CTD RGD |
PMID:24478399 PMID:28545106 PMID:31691506 |
RGD:151893486 |
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:3,428,904...3,429,006
|
|
G
|
Mir223
|
microRNA 223
|
severity
|
ISO
|
RNA:increased expression:pancreatic islet
|
RGD |
PMID:31118273 PMID:31118273 |
RGD:25823139, RGD:25823139 |
NCBI chr X:65,151,383...65,151,492
Ensembl chr X:61,141,887...61,141,996
|
|
G
|
Mir27a
|
microRNA 27a
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
|
|
G
|
Mir29a
|
microRNA 29a
|
|
ISO
|
RNA:increased expression:arteriole RNA:incrased expression:blood serum (human)
|
RGD |
PMID:29374012 PMID:33116722 |
RGD:13702880, RGD:243048436 |
NCBI chr 4:60,617,955...60,618,042
|
|
G
|
Mir29b1
|
microRNA 29b-1
|
|
ISO
|
RNA:increased expression:arteriole RNA:increased expression:blood serum (human)
|
RGD |
PMID:29374012 PMID:33116722 |
RGD:13702880, RGD:243048436 |
NCBI chr 4:60,618,334...60,618,414
Ensembl chr 4:59,650,986...59,651,067
|
|
G
|
Mir30a
|
microRNA 30a
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 9:33,233,941...33,234,011
Ensembl chr 9:25,737,600...25,737,670
|
|
G
|
Mir339
|
microRNA 339
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr12:15,277,546...15,277,641
Ensembl chr12:15,277,546...15,277,641
|
|
G
|
Mir375
|
microRNA 375
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
|
|
G
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Mir377
|
microRNA 377
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 6:134,576,456...134,576,527
|
|
G
|
Mir409
|
microRNA 409
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
|
|
G
|
Mir423
|
microRNA 423
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
|
|
G
|
Mir487b
|
microRNA 487b
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
|
|
G
|
Mir532
|
microRNA 532
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24478399 |
|
NCBI chr X:17,919,185...17,919,263
Ensembl chr X:15,247,315...15,247,393
|
|
G
|
Mir628
|
microRNA 628
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 8:73,739,846...73,739,929
Ensembl chr 8:73,739,846...73,739,929
|
|
G
|
Mir92b
|
microRNA 92b
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr 2:174,633,890...174,633,972
Ensembl chr 2:174,633,890...174,633,972
|
|
G
|
Mir98
|
microRNA 98
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342
|
|
G
|
Mirlet7d
|
microRNA let-7d
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28545106 |
|
NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990
|
|
G
|
Mki67
|
marker of proliferation Ki-67
|
|
IEP
|
protein:increased expression:hippocampus
|
RGD |
PMID:20045412 |
RGD:2317709 |
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
|
|
G
|
Mlxipl
|
MLX interacting protein-like
|
|
IEP
|
protein:increased expression:liver (rat)
|
RGD |
PMID:30029691 |
RGD:401799626 |
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
|
|
G
|
Mmp1
|
matrix metallopeptidase 1
|
|
ISO IEP
|
protein:decreased expression:renal glomerulus (human) protein:increased expression:nucleus pulposus
|
RGD |
PMID:19506087 PMID:19951028 |
RGD:2312464, RGD:7207379 |
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
|
|
G
|
Mmp2
|
matrix metallopeptidase 2
|
|
ISO
|
protein:increased expression:plasma (human)
|
RGD |
PMID:17320450 |
RGD:7207195 |
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
|
|
G
|
Mmp3
|
matrix metallopeptidase 3
|
treatment
|
IEP
|
|
RGD |
PMID:23204894 |
RGD:8694120 |
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
|
|
G
|
Mmp9
|
matrix metallopeptidase 9
|
treatment
|
ISO IEP
|
protein:increased expression:plasma (human)
|
RGD |
PMID:17320450 PMID:23204894 PMID:18552985 |
RGD:7207195, RGD:8694120, RGD:8547849 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
|
|
G
|
Mpst
|
mercaptopyruvate sulfurtransferase
|
|
IEP
|
|
RGD |
PMID:20127051 |
RGD:5134362 |
NCBI chr 7:111,836,079...111,843,651
Ensembl chr 7:109,955,675...109,963,141
|
|
G
|
Mras
|
muscle RAS oncogene homolog
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28869590 |
|
NCBI chr 8:108,823,374...108,886,104
Ensembl chr 8:99,944,036...99,996,408
|
|
G
|
Mrps12
|
mitochondrial ribosomal protein S12
|
|
ISO
|
ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:84,025,896...84,028,896
Ensembl chr 1:84,025,899...84,028,780
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G
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Mt-co2
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mitochondrially encoded cytochrome c oxidase II
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IEP
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mRNA:decreased expression:soleus
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RGD |
PMID:14563825 |
RGD:2300410 |
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G
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Mt-cyb
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mitochondrially encoded cytochrome b
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IEP
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mRNA:decreased expression:pancreatic islet
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RGD |
PMID:7588317 |
RGD:2298962 |
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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IEP ISO
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mRNA, protein:decreased expression:soleus, mitochondrion DNA:SNP: :3394T>C (human) DNA:polymorphism: :3316G>A, 3394T>C (human)
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RGD |
PMID:14563825 PMID:18679013 PMID:15265369 |
RGD:2300410, RGD:2311583, RGD:2311592 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G
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Mt2
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metallothionein 2
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ISO
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associated with Atherosclerosis; DNA:snp:promoter:g.-209A>G (human) DNA:missense mutation:cds:p.K51R (rs8052394) (human)
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RGD |
PMID:16518702 PMID:18349110 |
RGD:6483843, RGD:6483853 |
NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784
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G
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Mthfr
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methylenetetrahydrofolate reductase
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susceptibility no_association
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ISO
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DNA:transition:cds:g.677C>T (human) DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
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RGD |
PMID:21186995 PMID:16828193 PMID:19996639 |
RGD:6893476, RGD:6893657, RGD:6893653 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G
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Mtnr1a
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melatonin receptor 1A
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IEP
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mRNA:increased expression:pancreas
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RGD |
PMID:16441550 |
RGD:2301037 |
NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
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G
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Mtnr1b
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melatonin receptor 1B
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susceptibility
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ISO
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ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: MTNR1B-related condition CTD Direct Evidence: marker/mechanism
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ClinVar OMIM CTD RGD |
PMID:19060907 PMID:19060908 PMID:19060909 PMID:22286214 PMID:26551672 PMID:28492532 PMID:19060908 More...
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RGD:9588652 |
NCBI chr 8:12,638,219...12,652,737
Ensembl chr 8:12,638,219...12,652,737
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G
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Mtor
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mechanistic target of rapamycin kinase
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susceptibility
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ISO IEP
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DNA:SNP: :rs7212142(human) mRNA,protein:increased expression:hippocampus
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RGD |
PMID:28536139 PMID:23165862 |
RGD:13506787, RGD:13506788 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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G
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Mtr
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5-methyltetrahydrofolate-homocysteine methyltransferase
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IEP
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RGD |
PMID:21818837 |
RGD:7207079 |
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G
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Nampt
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nicotinamide phosphoribosyltransferase
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ISO
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protein:increased expression:serum
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RGD |
PMID:18410550 |
RGD:2311099 |
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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G
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Nccrp1
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NCCRP1, F-box associated domain containing
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:83,835,083...83,838,620
Ensembl chr 1:83,835,083...83,838,676
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G
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Ncoa6
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nuclear receptor coactivator 6
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IEP
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mRNA:decreased expression:pancreatic islet (rat)
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RGD |
PMID:16738321 |
RGD:9590126 |
NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
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G
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Neurod1
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neuronal differentiation 1
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no_association onset
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ISO
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DNA:missense mutation: :p.E110K (human ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: NEUROD1-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus CTD Direct Evidence: marker/mechanism associated with Obesity;DNA:missense mutation: :p.H241Q (human) DNA:missense mutation, nonsense mutation (human) DNA:polymorphism: :p.A45T (human) DNA:missense mutation: :p.S159P (human)
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OMIM ClinVar CTD RGD |
PMID:10545951 PMID:16123366 PMID:25741868 PMID:28492532 PMID:28664602 PMID:34556497 PMID:11719843 PMID:18331410 PMID:10545951 PMID:15592940 PMID:17440689 PMID:16773428 More...
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RGD:2313488, RGD:2313478, RGD:2313489, RGD:2313486, RGD:2313480, RGD:2313482 |
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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G
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Neurog3
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neurogenin 3
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ISO
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RGD |
PMID:17146417 |
RGD:2313775 |
NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
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G
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Nfatc2
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nuclear factor of activated T-cells 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:30718926 |
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NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:157,198,872...157,328,325
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G
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Nfe2l1
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NFE2 like bZIP transcription factor 1
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ISS
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OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
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MouseDO |
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NCBI chr10:82,296,824...82,309,472
Ensembl chr10:81,800,366...81,832,318
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G
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Nfe2l2
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NFE2 like bZIP transcription factor 2
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treatment
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IEP
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RGD |
PMID:23954466 |
RGD:10412692 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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G
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Nfkb1
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nuclear factor kappa B subunit 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17107852 |
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NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404
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G
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Nfkbib
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NFKB inhibitor beta
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:93,173,817...93,181,387
Ensembl chr 1:84,046,295...84,053,862
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G
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Nkx6-1
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NK6 homeobox 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16123366 |
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NCBI chr14:8,274,238...8,281,171
Ensembl chr14:7,969,756...7,976,681
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G
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Nog
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noggin
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IEP
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mRNA, protein:increased expression:aorta
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RGD |
PMID:21193740 |
RGD:10430114 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339
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G
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Nos1
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nitric oxide synthase 1
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IEP
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RGD |
PMID:16323284 |
RGD:1581689 |
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945
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G
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Nos2
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nitric oxide synthase 2
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susceptibility
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ISO IEP
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DNA:insertion/deletion, repeat:promoter (human) CTD Direct Evidence: marker/mechanism protein:increased expression:liver (mouse) protein:increased expression:retina
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CTD RGD |
PMID:16959961 PMID:19395279 PMID:21963495 PMID:18773271 |
RGD:2312484, RGD:5508747, RGD:2313220 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G
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Nos3
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nitric oxide synthase 3
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IEP ISO
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CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:12716763 PMID:16959961 PMID:18356581 |
RGD:2292097 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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G
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Notch2
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notch receptor 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:18372903 |
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NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
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G
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Nppa
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natriuretic peptide A
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ISO
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RGD |
PMID:19675071 |
RGD:2313586 |
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
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G
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Nppb
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natriuretic peptide B
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IEP ISO
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protein:increased expression:plasma protein:increased expression:serum
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RGD |
PMID:18192848 PMID:22037102 |
RGD:2293330, RGD:5685645 |
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
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G
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Npy
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neuropeptide Y
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ISO
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DNA:missense mutation:cds:p.L7P (human)
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RGD |
PMID:15926114 |
RGD:1580183 |
NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495
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G
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Nr0b2
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nuclear receptor subfamily 0, group B, member 2
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ISO
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DNA:polymorphisms: :multiple
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RGD |
PMID:18781616 |
RGD:2311604 |
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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G
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Nr1d1
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nuclear receptor subfamily 1, group D, member 1
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treatment
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IEP
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RGD |
PMID:23637135 |
RGD:10448992 |
NCBI chr10:84,224,599...84,231,812
Ensembl chr10:83,728,318...83,735,705
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G
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Nr1h2
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nuclear receptor subfamily 1, group H, member 2
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ISO
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RGD |
PMID:20939869 |
RGD:13506790 |
NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377
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G
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Nr1h3
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nuclear receptor subfamily 1, group H, member 3
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ISO
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mRNA:increased expression:peripheral blood mononuclear cell (human)
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RGD |
PMID:28871240 |
RGD:401850555 |
NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:77,158,808...77,168,722
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G
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Nr3c1
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nuclear receptor subfamily 3, group C, member 1
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IDA
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RGD |
PMID:17292727 |
RGD:4892117 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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G
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Nucb2
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nucleobindin 2
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ISO IEP
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mRNA:decreased expression:islet of Langerhans: protein:decreased expression:pancreas:
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RGD |
PMID:22108805 PMID:20032201 |
RGD:9831161, RGD:9831177 |
NCBI chr 1:170,750,830...170,787,356
Ensembl chr 1:170,750,877...170,787,353
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G
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Nus1
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NUS1 dehydrodolichyl diphosphate synthase subunit
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:30718926 PMID:33812996 |
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NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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G
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Ogg1
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8-oxoguanine DNA glycosylase
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ISO
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protein:increased expression:pancreatic islet, mitochondrion CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:22652274 PMID:12003641 |
RGD:2317133 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G
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Oxct1
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3-oxoacid CoA transferase 1
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IEP
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mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat)
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RGD |
PMID:20460097 |
RGD:2326185 |
NCBI chr 2:54,963,964...55,112,303
Ensembl chr 2:53,236,368...53,384,714
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G
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P2ry12
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purinergic receptor P2Y12
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ISO
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RGD |
PMID:15483100 |
RGD:6480536 |
NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:143,481,430...143,523,361
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G
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Paf1
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PAF1 homolog, Paf1/RNA polymerase II complex component
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:92,811,197...92,816,775
Ensembl chr 1:83,668,813...83,689,237
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G
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Pak4
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p21 (RAC1) activated kinase 4
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ISO
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ClinVar Annotator: match by term: Type 2 diabetes mellitus
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ClinVar |
PMID:28492532 |
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NCBI chr 1:92,977,437...93,016,721
Ensembl chr 1:83,849,904...83,859,413
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G
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Pam
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peptidylglycine alpha-amidating monooxygenase
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:24464100 PMID:30054598 |
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NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965
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G
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Pappa
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pappalysin
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ISO
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protein:decreased expression:serum
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RGD |
PMID:17728480 |
RGD:2313776 |
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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G
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Parl
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presenilin associated, rhomboid-like
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onset
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ISO
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DNA:missense mutation:cds:p.L262V (human) mRNA:decreased expression:vastus lateralis (human)
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RGD |
PMID:19185381 PMID:20444421 |
RGD:12880445, RGD:12902628 |
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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G
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