RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: type 2 diabetes mellitus
Accession: DOID:9352
browse the term
Definition: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. (DO)
Synonyms: exact_synonym: Diabetes Mellitus, Type II; Diabetes mellitus with hyperinsulinemia; IRS1-RELATED CONDITION; IRS2-RELATED CONDITION; Ketosis-Resistant Diabetes Mellitus; MTNR1B-RELATED CONDITION; Maturity Onset Diabetes Mellitus; Maturity-Onset Diabetes; NIDDM; Non-Insulin-Dependent Diabetes Mellitus; PPP1R3A-RELATED CONDITION; SLC30A8-RELATED CONDITION; T2D; TCF7L2-RELATED CONDITION; adult-onset diabetes mellitus; diabetes mellitus, noninsulin-dependent, late-onset; insulin-resistant diabetes mellitus; noninsulin-dependent diabetes mellitus; slow-onset diabetes mellitus; stable diabetes mellitus; type 2 diabetes
narrow_synonym: DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED; DIABETES MELLITUS, NONINSULIN-DEPENDENT, WITH ACANTHOSIS NIGRICANS AND HYPERTENSION; DIABETES MELLITUS, TYPE II, DIGENIC; INSULIN RESISTANCE, SEVERE, DIGENIC; PTPN1-RELATED CONDITION
related_synonym: DIABETES MELLITUS TYPE 2, SUSCEPTIBILITY TO; DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO; FABP2 POLYMORPHISM; GPD2-RELATED CONDITION; HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO; MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO; NEUROD1-RELATED CONDITION; UCP3 polymorphism G/A; diabetes mellitus type 2, protection against; noninsulin-dependent diabetes mellitus, association with
xref: EFO:0001360 ; EFO:0010164 ; ICD10CM:E11 ; MESH:D003924 ; MIM:125853 ; MONDO:0005148 ; NCI:C26747
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Aanat
aralkylamine N-acetyltransferase
IDA
mRNA, protein:increased expression, decreased activity:pineal gland
RGD
PMID:16441550
RGD:2301037
NCBI chr10:102,323,647...102,330,639
Ensembl chr10:101,827,301...101,831,801
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Abca1
ATP binding cassette subfamily A member 1
onset
ISO
DNA:SNP:exon:p.R230C (rs9282541) (human)
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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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
DNA:polymorphism:exon (human)
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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Abcc2
ATP binding cassette subfamily C member 2
IEP ISO
mRNA: decreased expression: liver protein: increased expression mRNA:decreased expression:liver
RGD
PMID:15319330 PMID:18189363 PMID:25152023
RGD:2312736 , RGD:2312726 , RGD:14700811
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
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Abcc8
ATP binding cassette subfamily C member 8
susceptibility
ISO
DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) DNA:missense mutation::A1369S (human) DNA:polymorphism:exon: DNA:polymorphism:intron:IVS16-3T>C (human) DNA:polymorphism: :p.S1369A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 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, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus
OMIM CTD ClinVar 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:38095268 PMID:38513803 PMID:18346985 PMID:15579791 PMID:17259403 PMID:11030411 PMID:18664331 PMID:18599530 More...
RGD:2301901 , RGD:1598640 , RGD:2313628 , RGD:737749 , RGD:2301897 , RGD:2301898
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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Abcg2
ATP binding cassette subfamily G member 2
IEP
mRNA:decreased expression:liver
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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Acads
acyl-CoA dehydrogenase short chain
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:18523805 PMID:25741868 PMID:28492532
NCBI chr12:47,154,259...47,163,580
Ensembl chr12:41,493,626...41,502,898
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Ace
angiotensin I converting enzyme
susceptibility
ISO
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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Acot2
acyl-CoA thioesterase 2
IDA
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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Acp1
acid phosphatase 1
ISO
RGD
PMID:15281007
RGD:2313183
NCBI chr 6:53,233,937...53,249,576
Ensembl chr 6:47,506,380...47,522,021
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Acp7
acid phosphatase 7, tartrate resistant
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,022,801...93,048,484
Ensembl chr 1:83,898,153...83,920,634
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Actn4
actinin alpha 4
ISO
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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Ada
adenosine deaminase
ISO
protein:increased expression:serum
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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Adam17
ADAM metallopeptidase domain 17
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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Adamts9
ADAM metallopeptidase with thrombospondin type 1 motif, 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18372903 PMID:23967108
NCBI chr 4:126,847,726...127,019,924
Ensembl chr 4:125,291,490...125,462,929
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Adcy5
adenylate cyclase 5
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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Adipoq
adiponectin, C1Q and collagen domain containing
ISO IEP
protein:decreased expression:plasma, myocardium: associated with myocardial infarction;protein:decreased expression: : DNA:SNP: :g.45T>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12114044 PMID:12354786 PMID:15734870 PMID:19622782 PMID:19708766 PMID:21155820 PMID:16822679 PMID:18472407 PMID:24655058 PMID:28843383 More...
RGD:2313238 , RGD:2313230 , RGD:5686359 , RGD:5686752 , RGD:5686807 , RGD:8694412 , RGD:14975146
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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Adipor2
adiponectin receptor 2
no_association
ISO
RGD
PMID:18075289 PMID:19631916 PMID:18548168 PMID:18363889
RGD:2312490 , RGD:2312476 , RGD:2312480 , RGD:2312486
NCBI chr 4:154,195,440...154,261,141
Ensembl chr 4:152,524,623...152,559,355
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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
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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
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Adra2b
adrenoceptor alpha 2B
onset
ISO
DNA:polymorphism (human)
RGD
PMID:17039423 PMID:17277585
RGD:2313544 , RGD:2313543
NCBI chr 3:135,038,481...135,042,527
Ensembl chr 3:114,585,169...114,589,355
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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
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Adrb3
adrenoceptor beta 3
onset no_association susceptibility
ISO
DNA:missense mutation: :p.I62M (human) DNA:missense mutation:cds:p.W64R rs4994 (human) DNA:polymorphism: :p.W64R (human)
RGD
PMID:16444766 PMID:19659999 PMID:17727676
RGD:2313163 , RGD:2313148 , RGD:2313149
NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
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Agap2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
ISO
RGD
PMID:20068140
RGD:13838849
NCBI chr 7:64,782,618...64,799,624
Ensembl chr 7:62,897,282...62,914,295
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Ager
advanced glycosylation end product-specific receptor
treatment no_association
ISO IDA IEP
protein:increased expression:jejunum, intestinal villi (rat) DNA:SNPs:promoter:-374T>A, -429T/C (human) DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human) DNA:SNP: :2245A>G (human) DNA:SNP: :1704G>T, 2184A>G (human) DNA:SNP: :557G>A (rs2070600, p.G82S) (human)
RGD
PMID:23630304 PMID:19735169 PMID:23403079 PMID:22154374 PMID:15896660 PMID:11884895 PMID:11884895 PMID:21067572 More...
RGD:7243184 , RGD:7244245 , RGD:7244262 , RGD:8695962 , RGD:8695969 , RGD:8695991 , RGD:8695991 , RGD:8548676
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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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
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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
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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
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Ahi1
Abelson helper integration site 1
ISO
mRNA:increased expression:vastus lateralis
RGD
PMID:20045148
RGD:11537398
NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:15,762,462...15,891,041
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Ahsg
alpha-2-HS-glycoprotein
susceptibility
ISO
DNA:polymorphism: :-469T>G (rs2077119) (human)
RGD
PMID:18316360 PMID:18633113
RGD:2313812 , RGD:2313811
NCBI chr11:91,625,975...91,632,583
Ensembl chr11:78,117,918...78,145,999
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Ak1
adenylate kinase 1
IEP
protein:increased expression:gastrocnemius muscle (rat)
RGD
PMID:20127051
RGD:5134362
NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:15,912,485...15,923,041
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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
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Akt1
AKT serine/threonine kinase 1
treatment
ISO IDA IEP
protein:increased serine phosphorylation:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31626838 PMID:19289493 PMID:19052261 PMID:24735788
RGD:2311130 , RGD:2313556 , RGD:39128151
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Akt2
AKT serine/threonine kinase 2
ISO ISS
DNA:missense mutation:cds:p.R274H (human) protein:decreased activity, phosphorylation:vastus lateralis (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus
OMIM ClinVar CTD MouseDO 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:18204829 PMID:18972094 PMID:19289493 PMID:11387480 More...
RGD:2313408 , RGD:2313405 , RGD:2307342 , RGD:2311130 , RGD:734545
NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
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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
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Aldob
aldolase, fructose-bisphosphate B
IDA ISO IEP
DNA:SNP:intron: (human) mRNA:decreased expression:soleus (rat)
RGD
PMID:19106228 PMID:12646233 PMID:19106228
RGD:2313414 , RGD:2313434 , RGD:2313414
NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:63,889,046...63,902,116
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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
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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
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Angpt2
angiopoietin 2
ISO
protein:increased expression:plasma
RGD
PMID:15823283
RGD:2313815
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
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Angptl3
angiopoietin-like 3
ISO
protein:increased expression:liver
RGD
PMID:15094378
RGD:2314234
NCBI chr 5:118,818,494...118,825,531
Ensembl chr 5:113,703,012...113,709,957
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Ankrd23
ankyrin repeat domain 23
IEP
RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue
RGD
PMID:12456686
RGD:2314859
NCBI chr 9:46,269,107...46,274,578
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:12663473 PMID:19336232
RGD:2313822 , RGD:2313823 , RGD:2313820
NCBI chr10:86,773,018...86,780,961
G
Ap3s2
adaptor related protein complex 3 subunit sigma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21874001
NCBI chr 1:143,228,131...143,268,573
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:132,058,739...132,091,518
Ensembl chr X:127,203,823...127,213,391
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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
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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
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Apoa5
apolipoprotein A5
no_association
ISO
DNA:polymorphism: :c.553G>T (human) DNA:polymorphism: :-1131T>C (human)
RGD
PMID:17087641 PMID:16039297 PMID:17548321
RGD:2313319 , RGD:2313321 , RGD:2313318
NCBI chr 8:55,446,329...55,460,509
Ensembl chr 8:46,561,229...46,563,816
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Apob
apolipoprotein B
treatment
ISO
RGD
PMID:18945923 PMID:15161783
RGD:2313981 , RGD:11354945
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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Apoc1
apolipoprotein C1
ISO
protein:decreased expression:plasma
RGD
PMID:3757210
RGD:2313953
NCBI chr 1:88,475,018...88,479,052
Ensembl chr 1:79,346,136...79,350,375
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Apoc2
apolipoprotein C2
ISO
protein:increased expression:plasma
RGD
PMID:3757210 PMID:12733353
RGD:2313953 , RGD:2313966
NCBI chr 1:88,457,397...88,462,365
Ensembl chr 1:79,329,428...79,334,476
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Apod
apolipoprotein D
ISO
DNA:polymorphism
RGD
PMID:15369805 PMID:7895459
RGD:2311177 , RGD:2311178
NCBI chr11:82,936,216...82,957,264
Ensembl chr11:69,431,260...69,452,305
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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
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Apoh
apolipoprotein H
ISO
RGD
PMID:16126948
RGD:2313984
NCBI chr10:93,841,992...93,855,897
Ensembl chr10:93,310,977...93,356,329
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Apom
apolipoprotein M
susceptibility
ISO
DNA:SNP:promoter:g.-778T>C(rs805296)(human)
RGD
PMID:16572495
RGD:2314248
NCBI chr20:3,695,618...3,698,218
Ensembl chr20:3,688,413...3,693,550
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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
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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
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Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:16096055
RGD:2313995
NCBI chr 2:185,686,703...185,745,546
Ensembl chr 2:182,997,736...183,056,580
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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
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Arx
aristaless related homeobox
IEP
RGD
PMID:16772326
RGD:1599258
NCBI chr X:62,010,097...62,022,009
Ensembl chr X:58,016,233...58,028,142
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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
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Asl
argininosuccinate lyase
ISO
mRNA:increased expression:leukocyte
RGD
PMID:16121806
RGD:2314010
NCBI chr12:32,295,779...32,313,257
Ensembl chr12:26,659,565...26,679,662
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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
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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
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IEP ISO IDA
mRNA:decreased expression:heart left ventricle CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16123366 PMID:21216827 PMID:22009485 PMID:27222135
RGD:6892953 , RGD:6771327 , RGD:13782085
NCBI chr12:39,733,519...39,782,942
Ensembl chr12:34,072,683...34,122,101
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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
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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
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Auts2
activator of transcription and developmental regulator AUTS2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr12:29,739,138...30,830,386
Ensembl chr12:24,104,192...25,194,416
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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
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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
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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
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Bace2
beta-secretase 2
treatment
ISO
RGD
PMID:28337562
RGD:13782177
NCBI chr11:50,176,852...50,258,948
Ensembl chr11:36,707,458...36,789,546
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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
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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
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Bche
butyrylcholinesterase
susceptibility
ISO
DNA:polymorphism: :p.A539T (human)
RGD GAD
PMID:11793025 PMID:15118671 PMID:16442234
RGD:2306782 , RGD:1331525 , RGD:2306780
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
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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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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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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
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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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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
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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
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Bhmt
betaine-homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23665415
NCBI chr 2:26,594,852...26,614,429
Ensembl chr 2:24,859,873...24,879,742
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Bmal2
basic helix-loop-helix ARNT like 2
ISO
DNA:SNPs: :rs7950226, rs11022775(human)
RGD
PMID:17728404
RGD:2314371
NCBI chr 4:181,429,097...181,478,384
Ensembl chr 4:179,699,502...179,746,949
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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
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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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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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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 chr12:47,332,740...47,338,461
Ensembl chr12:41,672,114...41,677,714
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C17h10orf67
similar to human chromosome 10 open reading frame 67
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
NCBI chr17:86,970,801...87,082,723
Ensembl chr17:82,071,838...82,174,353
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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 1:91,971,879...92,010,938
Ensembl chr 1:82,844,286...82,868,320
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C2cd4a
C2 calcium-dependent domain containing 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20818381
NCBI chr 8:77,348,161...77,359,996
Ensembl chr 8:68,466,664...68,470,031
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C2cd4b
C2 calcium-dependent domain containing 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20818381
NCBI chr 8:77,254,327...77,277,620
Ensembl chr 8:68,384,847...68,396,328
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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
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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
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Cadm2
cell adhesion molecule 2
ISO
DNA:SNP: :rs13078807 (human)
RGD
PMID:28401323
RGD:15092076
NCBI chr11:17,994,856...18,971,895
Ensembl chr11:4,555,159...5,525,400
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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
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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
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Capn10
calpain 10
ISO IEP IAGP
mRNA:increased expression:pancreas mRNA:decreased expression DNA:SNP DNA:polymorphism associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human) DNA:SNP:intron:rs2975760 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23349674 PMID:19688040 PMID:14646187 PMID:14658759 PMID:16721485 PMID:22012129 PMID:20406624 PMID:18554168 More...
RGD:4107074 , RGD:1625063 , RGD:737693 , RGD:1625049 , RGD:7247733 , RGD:7247734 , RGD:7247735
NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:93,498,478...93,510,494
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Capn12
calpain 12
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,298,571...93,311,220
Ensembl chr 1:84,171,059...84,183,119
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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 2:32,989,215...32,991,794
Ensembl chr 2:31,255,098...31,290,713
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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
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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
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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
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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
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Casp9
caspase 9
ISO
DNA:SNP (human)
RGD
PMID:16038259
RGD:2311246
Ensembl chr 5:154,109,046...154,126,626
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Casq1
calsequestrin 1
no_association
ISO
DNA:snp: :rs617698(human) DNA:snps: :multiple DNA:snp: :rs2275703(human)
RGD
PMID:18269685 PMID:15561963 PMID:15561962 PMID:17681849
RGD:2314133 , RGD:2314135 , RGD:2314136 , RGD:2314134
NCBI chr13:87,203,021...87,212,710
Ensembl chr13:84,670,649...84,680,339
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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
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Cbs
cystathionine beta synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23665415
NCBI chr20:9,709,394...9,733,925
Ensembl chr20:9,708,090...9,732,764
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Ccdc92
coiled-coil domain containing 92
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr12:37,457,676...37,484,080
Ensembl chr12:31,796,684...31,823,337
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Cckar
cholecystokinin A receptor
IAGP
DNA:deletion
RGD
PMID:16815799
RGD:1625200
NCBI chr14:61,505,270...61,513,618
Ensembl chr14:57,292,397...57,300,747
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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
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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
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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
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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
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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
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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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
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Cd36
CD36 molecule
severity
ISO IEP
protein:increased expression:plasma protein:increased expression:aorta DNA:SNP:promoter DNA:nonsense mutation: :p.L360X protein:increased expression:heart protein:increased expression:platelet CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus
CTD ClinVar RGD
PMID:16911630 PMID:16952981 PMID:25741868 PMID:31626838 PMID:32347024 PMID:32796572 PMID:16952981 PMID:17127041 PMID:16911630 PMID:15221799 PMID:7544802 PMID:20134099 PMID:12479587 More...
RGD:2307212 , RGD:2307211 , RGD:2307213 , RGD:2307218 , RGD:2307219 , RGD:6893499 , RGD:11040908
NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903
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Cd38
CD38 molecule
ISO IEP
mRNA:decreased expression:pancreatic islet DNA:missense mutation: :p.R140W (human)
RGD
PMID:12242463 PMID:7669044 PMID:9754820
RGD:2307232 , RGD:2307234 , RGD:2307233
NCBI chr14:71,384,532...71,424,794
Ensembl chr14:67,172,063...67,211,986
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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
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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
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Cdkal1
CDK5 regulatory subunit associated protein 1-like 1
ISO ISS
DNA:snps: :multiple DNA:snp: :rs7754840(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
CTD ClinVar MouseDO RGD
PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:23104008 PMID:23202124 PMID:24760768 PMID:19401414 PMID:18633108 PMID:18991055 More...
RGD:2313941 , RGD:2313949 , RGD:2313947
NCBI chr17:34,927,221...35,479,827
Ensembl chr17:34,718,687...35,407,524
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Cdo1
cysteine dioxygenase type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23665415
NCBI chr18:41,619,076...41,633,719
Ensembl chr18:39,432,474...39,447,296
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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 3:32,281,518...32,289,019
Ensembl chr 3:11,883,532...11,891,035
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:21143859
RGD:4892628
NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787
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Cisd2
CDGSH iron sulfur domain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr 2:226,502,517...226,527,325
Ensembl chr 2:223,828,937...223,868,946
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Clps
colipase
susceptibility
ISO
DNA:polymorphism:exon:p.R109C (human)
RGD
PMID:16189801
RGD:2314627
NCBI chr20:6,622,234...6,624,414
Ensembl chr20:6,620,529...6,622,689
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Cmip
c-Maf-inducing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr19:62,213,402...62,419,443
Ensembl chr19:45,304,031...45,508,709
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Cnksr2
connector enhancer of kinase suppressor of Ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr X:40,722,843...40,971,730
Ensembl chr X:36,907,850...37,150,555
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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
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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
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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
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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
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Cpe
carboxypeptidase E
onset no_association
ISO
DNA:SNP:cds (rs1583645) (human)
RGD
PMID:11462236 PMID:9662053 PMID:23776430
RGD:1626183 , RGD:1626184 , RGD:405650683
NCBI chr16:29,796,707...29,908,647
Ensembl chr16:25,030,276...25,142,233
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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
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Crhr1
corticotropin releasing hormone receptor 1
IEP
mRNA:decreased expression:hypothalamus (rat)
RGD
PMID:20472052
RGD:5507823
NCBI chr10:89,540,192...89,583,466
Ensembl chr10:89,040,203...89,083,481
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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
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Crtc2
CREB regulated transcription coactivator 2
treatment
IMP
RGD
PMID:23595987 PMID:19706791
RGD:9685169 , RGD:9685172
NCBI chr 2:178,007,233...178,017,397
Ensembl chr 2:175,709,644...175,719,763
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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
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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
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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
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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
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:19187771
RGD:2311356
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
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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
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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 8:96,860,415...96,925,789
Ensembl chr 8:87,981,116...88,045,832
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Cyba
cytochrome b-245 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15531508
NCBI chr19:67,396,143...67,404,214
Ensembl chr19:50,487,597...50,495,721
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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
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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
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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
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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
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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
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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
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO IEP
mRNA:increased expression:leukocyte mRNA, protein:decreased expression:liver mRNA:decreased expression:liver
RGD
PMID:12534643 PMID:10679205 PMID:10049703
RGD:2313686 , RGD:2313687 , RGD:2313688
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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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
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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
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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
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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
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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
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Defb1
defensin beta 1
IEP
RGD
PMID:14521940
RGD:4892271
NCBI chr16:77,001,326...77,016,068
Ensembl chr16:70,298,863...70,313,604
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Dgkd
diacylglycerol kinase, delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr 9:95,964,507...96,055,160
Ensembl chr 9:88,516,715...88,607,345
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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
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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
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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
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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
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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
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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
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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
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Ece1
endothelin converting enzyme 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16387788
NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371
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Ech1
enoyl-CoA hydratase 1
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,241,076...93,248,314
Ensembl chr 1:84,112,751...84,120,795
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Edn1
endothelin 1
ISO IEP
mRNA:increased expression:blood vessel endothelial cell protein:increased expression:mesenteric artery CTD Direct Evidence: marker/mechanism
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
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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
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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
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Eid2
EP300 interacting inhibitor of differentiation 2
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,665,837...92,667,162
G
Eid2b
EP300 interacting inhibitor of differentiation 2B
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,673,119...92,674,899
Ensembl chr 1:83,545,563...83,546,734
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Eif3f
eukaryotic translation initiation factor 3, subunit F
IEP
RGD
PMID:12875716
RGD:10755506
NCBI chr 1:172,369,062...172,378,043
Ensembl chr 1:162,934,212...162,943,204
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
NIDDM,OMIM:125853;DNA:polymorphism CTD Direct Evidence: marker/mechanism 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 ClinVar OMIM 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
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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
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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 3:54,276,187...54,376,373
Ensembl chr 3:33,867,219...33,967,150
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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
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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
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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
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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
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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
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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
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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
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F7
coagulation factor VII
susceptibility no_association
ISO IDA
associated with Kidney Failure; protein:increased expression:plasma (human) associated with Brain Infarction; protein:increased activity:plasma (human)
RGD
PMID:10332679 PMID:15860378 PMID:18000605 PMID:17785358 PMID:11689270 PMID:14614217 PMID:11137328 More...
RGD:2312388 , RGD:2312383 , RGD:2312380 , RGD:2312381 , RGD:2312382 , RGD:2312394 , RGD:2312386
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
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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
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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
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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 2:213,724,629...213,728,686
Ensembl chr 2:211,040,032...211,044,089
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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
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Fam234a
family with sequence similarity 234, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr10:15,736,741...15,768,043
Ensembl chr10:15,232,278...15,263,488
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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
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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
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Fbl
fibrillarin
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:83,469,832...83,478,932
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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
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Fbxo17
F-box protein 17
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,129,776...93,151,983
Ensembl chr 1:84,002,267...84,024,453
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Fbxo27
F-box protein 27
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,092,900...93,115,312
Ensembl chr 1:83,965,986...83,987,778
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Fcgbp
Fc gamma binding protein
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:83,372,127...83,413,083
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Fem1b
fem-1 homolog B
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr 8:72,160,722...72,173,996
Ensembl chr 8:63,265,301...63,278,577
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Ffar1
free fatty acid receptor 1
ameliorates
ISO
RGD
PMID:19401434 PMID:19758793
RGD:150517551 , RGD:2315761
NCBI chr 1:95,238,785...95,239,689
Ensembl chr 1:86,111,368...86,112,272
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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
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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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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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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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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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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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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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Foxa2
forkhead box A2
no_association
ISO
DNA:missense mutation:p.A86T (human) DNA:SNP, repeat: :rs1055080 (human) DNA:transversion, transitions:promoter, exon:multiple
RGD
PMID:11043867 PMID:18797817 PMID:10868949
RGD:2313245 , RGD:2313242 , RGD:2313246
NCBI chr 3:155,923,305...155,927,508
Ensembl chr 3:135,470,131...135,474,326
G
Foxc2
forkhead box C2
no_association
ISO
DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T DNA:insertion:1006insA
RGD
PMID:12540636 PMID:15523639
RGD:1601220 , RGD:1601217
NCBI chr19:66,094,718...66,097,420
Ensembl chr19:49,185,662...49,188,737
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
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
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
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
susceptibility no_association
ISO IEP
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs17817449 (human) DNA:SNP: :rs9939609 (human) DNA:SNP: :rs1421085 (human) DNA:SNP:intron:rs9939609 (human) DNA:SNPs: :multiple mRNA:increased expression:blood
CTD RGD
PMID:23104008 PMID:29154870 PMID:21294771 PMID:32061761 PMID:28890888 PMID:29410390 PMID:25303482 More...
RGD:329813082 , RGD:329901762 , RGD:329901771 , RGD:329901773 , RGD:329901856 , RGD:329951010
NCBI chr19:31,456,749...31,865,011
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 5:153,436,262...153,453,512
Ensembl chr 5:148,152,700...148,169,972
G
Fxn
frataxin
no_association
ISO
DNA:repeats:intron:GAA (human)
RGD
PMID:10102715 PMID:9588463
RGD:2307051 , RGD:2307050
NCBI chr 1:231,300,457...231,323,989
Ensembl chr 1:221,872,420...221,897,540
G
G6pc1
glucose-6-phosphatase catalytic subunit 1
ISO IDA
protein:increased activity:liver
RGD
PMID:8865366 PMID:16396963 PMID:10866049
RGD:728661 , RGD:2315959 , RGD:2315966
NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,257,668...86,333,804
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
G
Gadd45gip1
GADD45G interacting protein 1
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr19:40,225,503...40,228,052
Ensembl chr19:23,320,159...23,323,236
G
Gal
galanin and GMAP prepropeptide
ISO
protein:increased expression:blood
RGD
PMID:15735230
RGD:2313738
NCBI chr 1:210,079,709...210,084,572
Ensembl chr 1:200,650,439...200,654,959
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
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
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 chr10:106,306,803...106,314,970
Ensembl chr10:105,808,473...105,816,640
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
G
Gck
glucokinase
no_association treatment
ISO IDA ISS
DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population (human) DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians (human) MODY2, OMIM:125851;DNA:point mutation:E279X protein:altered localization:hepatocyte:impaired translocation from nucleus to cytoplasm in Zucker diabetic fatty rats DNA:polymorphisms::significant association between alleles of two SSLPs and T2DM in a Japanese population (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus
OMIM CTD ClinVar MouseDO 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:8314445 PMID:1570017 PMID:15138155 PMID:8325445 PMID:22234649 More...
RGD:2301887 , RGD:2301883 , RGD:1601292 , RGD:1582633 , RGD:2301889 , RGD:7488969
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
G
Gckr
glucokinase regulator
ISO
DNA:polymorphism: :rs780094 (human) DNA:SNP::rs1260326(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20081858 PMID:19241058 PMID:18556336 PMID:11473043 PMID:21411509
RGD:2315983 , RGD:2315985 , RGD:2315986 , RGD:7242280
NCBI chr 6:30,765,071...30,795,627
Ensembl chr 6:25,045,100...25,075,654
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
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 4:121,054,023...121,103,799
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 chr10:34,616,146...34,662,420
Ensembl chr10:34,115,052...34,161,329
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
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
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
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
G
Gip
gastric inhibitory polypeptide
ISO IDA
disease in rat treated with human protein
RGD
PMID:18937625 PMID:19126188 PMID:19473824 PMID:19056762
RGD:2312589 , RGD:2312591 , RGD:2312587 , RGD:2312529
NCBI chr10:81,465,070...81,473,216
Ensembl chr10:80,968,352...80,976,503
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 1:87,932,316...87,956,084
Ensembl chr 1:78,805,593...78,814,462
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
G
Glis3
GLIS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158537
NCBI chr 1:235,389,567...235,809,416
Ensembl chr 1:225,976,326...226,395,899
G
Glo1
glyoxalase 1
ISO
DNA:point mutation: :c.332A>C (human)
RGD
PMID:18413187
RGD:7242567
NCBI chr20:8,665,061...8,683,095
Ensembl chr20:8,662,801...8,681,649
G
Glp1r
glucagon-like peptide 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr20:8,973,393...9,011,622
Ensembl chr20:8,972,004...9,010,241
G
Gmfg
glia maturation factor, gamma
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,856,154...92,866,722
Ensembl chr 1:83,728,776...83,739,183
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 4:159,325,741...159,331,443
Ensembl chr 4:157,639,469...157,645,173
G
Gp2
glycoprotein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr 1:183,228,395...183,243,954
Ensembl chr 1:173,797,057...173,812,619
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 1:78,471,900...78,535,374
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 OMIM ClinVar
PMID:9070847 PMID:16123366 PMID:25741868 PMID:28492532
NCBI chr 3:62,209,432...62,346,590
Ensembl chr 3:41,801,930...41,936,901
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
G
Gpt2
glutamic--pyruvic transaminase 2
IEP
protein:increased expression, activity:liver:
RGD
PMID:25865565
RGD:11342811
NCBI chr19:37,700,023...37,734,551
Ensembl chr19:21,517,621...21,560,610
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
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
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
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
DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22652274 PMID:16413497 PMID:17979505 PMID:20739761
RGD:2306628 , RGD:2306627 , RGD:5490963
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:20739761
RGD:5490963
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:17979505
RGD:2306627
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
G
H19
H19 imprinted maternally expressed transcript
sexual_dimorphism
ISO
RNA:decrased expression:blood serum (human)
RGD
PMID:33116722
RGD:243048436
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
G
Hba-a2
hemoglobin alpha, adult chain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16632892
NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392 Ensembl chr10:15,307,815...15,338,392
G
Hdac1
histone deacetylase 1
ISO
protein:increased activity:kidney:
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
ISO
protein:increased activity:kidney:
RGD
PMID:19553350
RGD:9590229
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
G
Hectd4
HECT domain E3 ubiquitin protein ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35713687
NCBI chr12:40,800,232...40,991,584
Ensembl chr12:35,182,154...35,330,987
G
Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation:cds:p.H63D (human) associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human)
RGD
PMID:20097100 PMID:30291871
RGD:8694381 , RGD:14701045
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
G
Hhex
hematopoietically expressed homeobox
ISO
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
G
Hif1a
hypoxia inducible factor 1 subunit alpha
susceptibility
IEP ISO
protein:increased expression:heart blood vessel DNA:missense mutation:cds:p.P582S (human) associated with Breast Neoplasms;protein:increased expression:serum (human)
RGD
PMID:12234789 PMID:16046581 PMID:23244125 PMID:17914354
RGD:625730 , RGD:8695936 , RGD:8695972 , RGD:10395377
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
Hipk4
homeodomain interacting protein kinase 4
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:91,938,308...91,948,680
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
G
Hk2
hexokinase 2
ISO
mRNA:decreased expression:epididymal fat pad, quadriceps
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
G
Hmg20a
high mobility group 20A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21874001
NCBI chr 8:65,715,688...65,791,663
Ensembl chr 8:56,819,659...56,895,656
G
Hmga1
high mobility group AT-hook 1
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
CTD ClinVar OMIM MouseDO
PMID:15924147 PMID:21364139 PMID:23512162
NCBI chr20:5,612,902...5,620,596
Ensembl chr20:5,611,694...5,618,752
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO IMP
DNA:polymorphism (human)
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
G
Hmox1
heme oxygenase 1
treatment
ISO IEP
DNA:repeat:promoter associated with Obesity CTD Direct Evidence: marker/mechanism|therapeutic
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
G
Hnf1a
HNF1 homeobox A
susceptibility onset
ISO ISS
DNA:deletions:exon:multiple Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple DNA:nonsense mutations, missense mutations: :multiple DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) (human) CTD Direct Evidence: marker/mechanism 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 DNA:SNP:cds: p.G319S (human) associated with nicotine dependence; DNA:SNP:cds: p.G319S (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 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 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
OMIM CTD ClinVar MouseDO 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:8945470 PMID:18003757 PMID:18332101 PMID:20716378 PMID:27087001 PMID:21208426 More...
RGD:2301828 , RGD:1601479 , RGD:2301827 , RGD:2301863 , RGD:329901814 , RGD:329901816 , RGD:329901835
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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Hnf1b
HNF1 homeobox B
susceptibility no_association
ISO
renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A DNA:deletions:cds:multiple (human) CTD Direct Evidence: marker/mechanism|therapeutic 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
OMIM CTD ClinVar 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:35643372 PMID:36208030 PMID:36549658 PMID:36613572 PMID:11317673 PMID:19417042 PMID:15883474 More...
RGD:1601484 , RGD:2312748 , RGD:2312750
NCBI chr10:69,233,377...69,287,360
Ensembl chr10:68,735,894...68,789,888
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Hnf4a
hepatocyte nuclear factor 4, alpha
susceptibility
ISO IEP
DNA:SNPs:promoter:(human) type I maturity-onset diabetes of the young, OMIM:125850 DNA:missense mutation:exon:p.T130I DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:liver: mRNA:decreased expression:liver,pancreas 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
OMIM CTD ClinVar 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:8945471 PMID:18028455 PMID:18332101 PMID:19179483 PMID:19252740 More...
RGD:2301836 , RGD:1601637 , RGD:2301839 , RGD:2301863 , RGD:12904769 , RGD:12904770
NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320
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Hnrnpl
heterogeneous nuclear ribonucleoprotein L
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,226,373...93,239,084
Ensembl chr 1:84,100,879...84,111,553
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Hp
haptoglobin
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16506275 PMID:19996384
RGD:6483015
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
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Hpx
hemopexin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16506275
NCBI chr 1:169,344,647...169,352,155
Ensembl chr 1:159,932,755...159,940,328
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
IEP ISO
mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats DNA:SNPs:intron: (rs12086634,rs846910) (human)
RGD
PMID:14697232 PMID:28750217
RGD:1625074 , RGD:329901909
NCBI chr13:107,277,526...107,327,462
Ensembl chr13:104,728,539...104,788,687
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
mRNA, protein:increased expression:skeletal muscle
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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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
IEP
mRNA:decreased expression:testis, Leydig cell (rat)
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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Hsd3b1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
IEP
mRNA:decreased expression:testis, Leydig cell (rat)
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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Hsf1
heat shock transcription factor 1
ISO
protein:increased expression:heart (mouse)
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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Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic p
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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Hspa4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:serum (human)
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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Htr2c
5-hydroxytryptamine receptor 2C
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr X:115,453,190...115,682,325
Ensembl chr X:110,641,153...110,870,287
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Iapp
islet amyloid polypeptide
ISO ISS
protein:increased expression:pancreatic islet (human) CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
CTD MouseDO RGD
PMID:16123366 PMID:23793354 PMID:18641056 PMID:2441214 PMID:19100955
RGD:2313359 , RGD:9686128 , RGD:2311446
NCBI chr 4:176,968,097...176,975,363
Ensembl chr 4:175,237,115...175,242,920
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Icam1
intercellular adhesion molecule 1
IEP ISO
mRNA, protein:increased expression:aorta (rat) protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
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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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
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Ide
insulin degrading enzyme
no_association
ISO IAGP
DNA:SNPs, haplotype: :rs2209972, rs1887922 (human) DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat) DNA:SNP:cds (rs6583813) (human)
RGD
PMID:12765971 PMID:16380485 PMID:12634421 PMID:10958757 PMID:23776430
RGD:1626697 , RGD:1626698 , RGD:737718 , RGD:737717 , RGD:405650683
NCBI chr 1:244,415,495...244,516,925
Ensembl chr 1:234,995,351...235,102,440
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Ifng
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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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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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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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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Igf1r
insulin-like growth factor 1 receptor
IEP
protein:decreased expression:pancreas protein:decreased expression:myocardium, blood vessel endothelial cell
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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Igf2
insulin-like growth factor 2
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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Igf2bp2
insulin-like growth factor 2 mRNA binding protein 2
susceptibility
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:17463246 PMID:17463248 PMID:17463249
NCBI chr11:92,378,908...92,478,893
Ensembl chr11:78,874,414...78,974,377
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Igf2r
insulin-like growth factor 2 receptor
susceptibility
ISO
DNA:insertion, deletion:3' utr (human)
RGD
PMID:16868148
RGD:2311514
NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:16005252
RGD:2313767
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083
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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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Il10
interleukin 10
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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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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Il1b
interleukin 1 beta
susceptibility
ISO
DNA:snp:exon:g.3968C>T rs1143634 (human)
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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Il1rn
interleukin 1 receptor antagonist
susceptibility no_association disease_progression
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human) DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human)
RGD
PMID:17069782 PMID:8786086 PMID:21205020
RGD:6907409 , RGD:6907412 , RGD:7175255
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
susceptibility
IEP ISO
mRNA:increased expression:adipose tissue DNA:polymorphism:promoter:-572C>G (human) protein:increased expression:extracellular space (human) DNA, protein:SNP, increased expression:promoter:serum, -174G>C (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, 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:19084046 PMID:18573122 PMID:19175895 PMID:28303994 More...
RGD:2307269 , RGD:2307270 , RGD:2307266 , RGD:14975285
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Inppl1
inositol polyphosphate phosphatase-like 1
ISO
DNA:SNPs: :rs2276047,snp8(human) DNA:deletion:3' utr (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12086927 PMID:25635986 PMID:15220217 PMID:12086927
RGD:1626127 , RGD:633161
NCBI chr 1:165,595,047...165,609,503
Ensembl chr 1:156,183,059...156,197,500
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Ins1
insulin 1
ISO
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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Ins2
insulin 2
ISO ISS
CTD Direct Evidence: marker/mechanism|therapeutic OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type 2 diabetes mellitus
CTD MouseDO ClinVar 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...
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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Insr
insulin receptor
treatment
ISO IDA IMP IEP
protein:increased serine phosphorylation, increased protein binding:liver protein:decreased expression:kidney protein:decreased phosphorylation:vastus lateralis:phosphotyrosine (human) ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus
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:19251743 PMID:19340286 PMID:17050616 PMID:19224872 PMID:17855644 PMID:18972094 PMID:23700236 PMID:19017805 More...
RGD:2307334 , RGD:2307334 , RGD:2307333 , RGD:2307341 , RGD:2307335 , RGD:2290475 , RGD:2307342 , RGD:10403046 , RGD:2314405
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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Irs1
insulin receptor substrate 1
no_association susceptibility
ISO IDA ISS
DNA:point mutation:exon:T608R DNA:polymorphisms: :p.P512A, p.G971R (human) DNA:SNP:promoter:-446G>A, -7120G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IRS1-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
CTD ClinVar MouseDO OMIM 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:15561966 PMID:19996384 PMID:22001674 PMID:14633864 More...
RGD:1624975 , RGD:6482863 , RGD:6483015 , RGD:6483016 , RGD:7207057
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
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Irs2
insulin receptor substrate 2
ISO ISS
DNA:polymorphism:exon:G1057D CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: IRS2-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus
OMIM CTD MouseDO ClinVar RGD
PMID:10525667 PMID:11030756 PMID:11473060 PMID:11600548 PMID:25741868 PMID:28492532 PMID:11030756 PMID:14617753 More...
RGD:1625023 , RGD:10045938
NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482
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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:
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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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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Itga2
integrin subunit alpha 2
ISO
protein:increased expression:platelet (human)
RGD
PMID:15025679
RGD:2307425
NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:46,523,948...46,621,481
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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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Itln1
intelectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23555749
NCBI chr13:86,464,641...86,490,655
Ensembl chr13:83,948,124...83,958,227
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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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Jazf1
JAZF zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18372903
NCBI chr 4:83,210,054...83,513,790
Ensembl chr 4:81,881,061...82,183,100
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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 DNA:polymorphism: :p.E23K (human) DNA:SNP DNA:missense mutation::p.E23K (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:heart 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: 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
CTD ClinVar 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:19498446 PMID:19502414 PMID:17259403 PMID:24681897 More...
RGD:2313610 , RGD:2311534 , RGD:2311533 , RGD:2313628 , RGD:12790969
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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Kcnk16
potassium two pore domain channel subfamily K member 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158537
NCBI chr15:4,069,495...4,098,836
Ensembl chr15:4,042,506...4,049,652
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Kcnmb1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
IEP
protein:decreased expression:aorta
RGD
PMID:18790848
RGD:10412045
NCBI chr10:19,062,014...19,119,005
Ensembl chr10:18,557,904...18,565,798
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Kcnn4
potassium calcium-activated channel subfamily N member 4
IEP
protein:increased expression:aorta (rat)
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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Kcnq1
potassium voltage-gated channel subfamily Q member 1
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 1:207,721,134...208,054,073
Ensembl chr 1:198,291,766...198,624,669
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Kcnu1
potassium calcium-activated channel subfamily U member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr16:72,844,692...72,932,216
Ensembl chr16:66,141,976...66,229,465
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Kdr
kinase insert domain receptor
ISO
protein:decreased expression:skin, blood vessel
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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Kif6
kinesin family member 6
sexual_dimorphism
ISO
DNA:SNP: :p.W719R (rs20455) (human)
RGD
PMID:25629058
RGD:243048454
NCBI chr 9:18,573,925...18,870,789
Ensembl chr 9:11,072,824...11,373,006
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Kl
Klotho
IEP ISO
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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Klf11
KLF transcription factor 11
ISO
DNA:polymorphisms: :p.Q62R, p.A347S, p.T220M (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar RGD
PMID:15774581 PMID:18199129 PMID:25741868 PMID:28492532 PMID:34393998 PMID:15774581 More...
RGD:2311540
NCBI chr 6:47,014,312...47,026,152
Ensembl chr 6:41,285,842...41,297,550
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Klf14
KLF transcription factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29632379
NCBI chr 4:60,521,363...60,524,285
Ensembl chr 4:59,554,011...59,556,933
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Kmt2d
lysine methyltransferase 2D
ISO
RGD
PMID:23826075
RGD:9588237
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Ksr2
kinase suppressor of ras 2
ISO
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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Lcn2
lipocalin 2
ISO
protein:increased expression:serum:
RGD
PMID:19949414
RGD:126779589
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095
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Lep
leptin
susceptibility
IMP ISO ISS
CTD Direct Evidence: therapeutic DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
CTD MouseDO 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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Lepr
leptin receptor
susceptibility treatment
ISO IAGP ISS
DNA:insertion:3' utr (human) DNA:polymorphisms (human) associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 DNA:mutations:cds: : (rat) CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:20175764 PMID:22933112 PMID:24263156 PMID:26939912 PMID:39059604 PMID:17065694 PMID:18439701 PMID:16284652 PMID:23154293 PMID:22215535 PMID:32710530 More...
RGD:2311144 , RGD:2311141 , RGD:10412018 , RGD:13432147 , RGD:14696694 , RGD:401960103
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Leprfa
leptin receptor; fa mutant
IAGP
RGD
PMID:23154293
RGD:13432147
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Lgals4
galectin 4
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,248,463...93,260,002
Ensembl chr 1:84,124,764...84,132,481
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Lgals5
galectin 5
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr10:64,351,976...64,355,137
Ensembl chr10:63,853,935...63,857,153
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Lgals7
galectin 7
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,275,092...93,279,529
Ensembl chr 1:84,150,252...84,152,015
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Lipc
lipase C, hepatic type
susceptibility
ISO
DNA:transition:promoter:-250G>A (human) protein:increased expression:plasma (human) 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 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...
RGD:2308830 , RGD:2308826
NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464
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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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Lmna
lamin A/C
no_association
ISO
DNA:SNPs
RGD
PMID:17327461 PMID:17327437
RGD:1624984 , RGD:1624985
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423
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Lnpep
leucyl and cystinyl aminopeptidase
ISO IDA
RGD
PMID:11701721 PMID:16967782
RGD:2311542 , RGD:2306436
NCBI chr 1:66,931,712...67,027,610
Ensembl chr 1:58,258,642...58,354,544
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Lpl
lipoprotein lipase
treatment
ISO IEP
associated with Obesity DNA:SNP:intron:13836C>A (rs343) (human)
RGD
PMID:8641022 PMID:18321693 PMID:18985010 PMID:29981201
RGD:1580537 , RGD:2313304 , RGD:2313298 , RGD:13793399
NCBI chr16:25,596,205...25,621,928
Ensembl chr16:20,829,465...20,855,249
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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 1:92,866,864...92,888,984
Ensembl chr 1:83,682,964...83,761,449
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Lta
lymphotoxin alpha
onset no_association
ISO
DNA:polymorphism: :p.T60N (human)
RGD
PMID:15729581 PMID:16132956
RGD:1625033 , RGD:2313261
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859
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Madd
MAP-kinase activating death domain
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr 3:97,570,141...97,613,688
Ensembl chr 3:77,114,314...77,157,701
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Maea
macrophage erythroblast attacher, E3 ubiquitin ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158537
NCBI chr14:81,581,784...81,615,246
Ensembl chr14:77,357,264...77,390,671
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Mafa
MAF bZIP transcription factor A
ISO ISS
protein:decreased expression:islet: protein:decreased expression:beta cells of pancrea OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO RGD
PMID:24013263 PMID:20424231
RGD:13506742 , RGD:13506745
NCBI chr 7:109,313,021...109,315,813
Ensembl chr 7:107,433,605...107,434,690
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
IEP
RGD
PMID:21820301
RGD:11561956
NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:143,783,024...143,784,670
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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
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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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Mapk1
mitogen activated protein kinase 1
treatment
ISO IDA
protein:hyperphosphorylation:pancreas: protein:increased expression:dorsal horn: protein:hypophosphorylation:pancreatic islet:
RGD
PMID:26860984 PMID:27259299 PMID:28757391 PMID:21911753 PMID:19164460
RGD:13506775 , RGD:13506776 , RGD:13506777 , RGD:13506785 , RGD:13506786
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
treatment
IDA ISO
protein:hypophosphorylation:pancreatic islet: protein:hyperphosphorylation:pancreas: protein:increased expression:dorsal horn:
RGD
PMID:21911753 PMID:26860984 PMID:27259299 PMID:28757391 PMID:19164460
RGD:13506785 , RGD:13506775 , RGD:13506776 , RGD:13506777 , RGD:13506786
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
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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
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Mapk8ip1
mitogen-activated protein kinase 8 interacting protein 1
ISO
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
OMIM ClinVar CTD
PMID:10700186
NCBI chr 3:98,810,540...98,829,302
Ensembl chr 3:78,355,048...78,372,884
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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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Mat1a
methionine adenosyltransferase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23665415
NCBI chr16:17,017,168...17,035,368
Ensembl chr16:16,983,022...17,001,274
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Matn4
matrilin 4
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
NCBI chr 3:173,539,966...173,554,984
Ensembl chr 3:153,120,632...153,135,865
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Med29
mediator complex subunit 29
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,805,505...92,810,908
Ensembl chr 1:83,677,961...83,683,365
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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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Mif
macrophage migration inhibitory factor
IEP
mRNA, protein:increased expression:kidney cortex, epithelial cell
RGD
PMID:16571782
RGD:1641984
NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Mir10b
microRNA 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 3:80,035,859...80,035,967
Ensembl chr 3:59,628,438...59,628,546
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Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:61,028,817...61,028,901
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Mir1249
microRNA 1249
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 7:117,955,517...117,955,636
Ensembl chr 7:116,075,593...116,075,712
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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
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Mir126a
microRNA 126a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478399
NCBI chr 3:29,813,150...29,813,267
Ensembl chr 3:9,415,063...9,415,180
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Mir127
microRNA 127
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 6:134,328,454...134,328,550
Ensembl chr 6:128,546,215...128,546,311
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Mir1306
microRNA 1306
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:96,213,960...96,214,032
Ensembl chr11:82,709,637...82,709,719
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Mir130b
microRNA 130b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478399
NCBI chr11:97,384,380...97,384,461
Ensembl chr11:83,880,163...83,880,244
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Mir140
microRNA 140
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478399
NCBI chr19:52,375,293...52,375,391
Ensembl chr19:35,465,577...35,465,675
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Mir141
microRNA 141
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 4:159,209,525...159,209,618
Ensembl chr 4:157,523,239...157,523,332
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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 chr10:63,459,397...63,459,479
Ensembl chr10:62,961,348...62,961,430
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Mir146b
microRNA 146b
ISO
RNA:increased expression:arteriole
RGD
PMID:29374012
RGD:13702880
NCBI chr 1:255,144,860...255,144,947
Ensembl chr 1:245,203,438...245,203,525
G
Mir151
microRNA 151
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 7:107,061,380...107,061,476
G
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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Mir181c
microRNA 181c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr19:40,888,291...40,888,396
Ensembl chr19:23,983,523...23,983,628
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Mir192
microRNA 192
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478399
NCBI chr 1:212,994,209...212,994,318
Ensembl chr 1:203,564,946...203,565,055
G
Mir195
microRNA 195
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478399
NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924
G
Mir200a
microRNA 200a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 5:171,930,717...171,930,805
G
Mir204
microRNA 204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:229,743,461...229,743,570
Ensembl chr 1:220,316,931...220,317,040
G
Mir205
microRNA 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr13:107,564,535...107,564,642
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
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
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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
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Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr19:40,859,603...40,859,689
Ensembl chr19:23,954,831...23,954,917
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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
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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
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Mir339
microRNA 339
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr12:20,391,395...20,391,490
Ensembl chr12:15,277,546...15,277,641
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Mir375
microRNA 375
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 9:83,906,582...83,906,656
Ensembl chr 9:76,457,911...76,457,985
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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 6:134,579,185...134,579,261
Ensembl chr 6:128,757,779...128,757,858
G
Mir423
microRNA 423
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478399
NCBI chr10:62,412,272...62,412,350
Ensembl chr10:61,914,133...61,914,226
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Mir487b
microRNA 487b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 6:134,562,890...134,562,971
Ensembl chr 6:128,741,485...128,741,566
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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
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Mir628
microRNA 628
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:82,620,496...82,620,579
Ensembl chr 8:73,739,846...73,739,929
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Mir92b
microRNA 92b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 2:176,931,653...176,931,735
Ensembl chr 2:174,633,890...174,633,972
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Mir98
microRNA 98
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr X:24,460,648...24,460,755
Ensembl chr X:20,981,235...20,981,342
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Mirlet7d
microRNA let-7d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr17:16,322,260...16,322,357
Ensembl chr17:16,115,893...16,115,990
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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
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Mlxipl
MLX interacting protein-like
IEP
protein:increased expression:liver (rat)
RGD
PMID:30029691
RGD:401799626
NCBI chr12:27,178,158...27,213,675
Ensembl chr12:21,543,576...21,577,112
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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
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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
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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
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Mmp9
matrix metallopeptidase 9
treatment
ISO IEP
protein:increased expression:plasma (human)
RGD
PMID:17320450 PMID:18552985 PMID:23204894
RGD:7207195 , RGD:8547849 , RGD:8694120
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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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
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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
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Mrps12
mitochondrial ribosomal protein S12
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,153,424...93,156,422
Ensembl chr 1:84,025,899...84,028,780
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
IEP
mRNA:decreased expression:soleus
RGD
PMID:14563825
RGD:2300410
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-cyb
mitochondrially encoded cytochrome b
IEP
mRNA:decreased expression:pancreatic islet
RGD
PMID:7588317
RGD:2298962
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
IEP ISO
mRNA, protein:decreased expression:soleus, mitochondrion DNA:polymorphism: :3316G>A, 3394T>C (human) DNA:SNP: :3394T>C (human)
RGD
PMID:14563825 PMID:15265369 PMID:18679013
RGD:2300410 , RGD:2311592 , RGD:2311583
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Mt2
metallothionein 2
ISO
associated with Atherosclerosis; DNA:snp:promoter:g.-209A>G (human) DNA:missense mutation:cds:p.K51R (rs8052394) (human)
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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Mthfr
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:transition:cds:g.677C>T (human) DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:21186995 PMID:19996639 PMID:16828193
RGD:6893476 , RGD:6893653 , RGD:6893657
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtnr1a
melatonin receptor 1A
IEP
mRNA:increased expression:pancreas
RGD
PMID:16441550
RGD:2301037
NCBI chr16:53,876,964...53,896,421
Ensembl chr16:47,144,461...47,163,919
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Mtnr1b
melatonin receptor 1B
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: MTNR1B-related condition
CTD OMIM ClinVar RGD
PMID:19060907 PMID:19060908 PMID:19060909 PMID:22286214 PMID:26551672 PMID:28492532 PMID:19060908 More...
RGD:9588652
NCBI chr 8:20,919,593...20,934,109
Ensembl chr 8:12,638,219...12,652,737
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Mtor
mechanistic target of rapamycin kinase
susceptibility
ISO IEP
DNA:SNP: :rs7212142(human) mRNA,protein:increased expression:hippocampus
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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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
IEP
RGD
PMID:21818837
RGD:7207079
NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822
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Nampt
nicotinamide phosphoribosyltransferase
ISO
protein:increased expression:serum
RGD
PMID:18410550
RGD:2311099
NCBI chr 6:55,152,756...55,189,547
Ensembl chr 6:49,424,332...49,462,100
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Nccrp1
NCCRP1, F-box associated domain containing
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,962,618...92,966,155
Ensembl chr 1:83,835,083...83,838,676
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Ncoa6
nuclear receptor coactivator 6
IEP
mRNA:decreased expression:pancreatic islet (rat)
RGD
PMID:16738321
RGD:9590126
NCBI chr 3:164,351,062...164,422,079
Ensembl chr 3:143,890,896...143,952,268
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Neurod1
neuronal differentiation 1
onset no_association susceptibility
ISO
DNA:missense mutation: :p.E110K (human DNA:polymorphism: :p.A45T (human) DNA:missense mutation: :p.S159P (human) DNA:missense mutation, nonsense mutation (human) associated with Obesity;DNA:missense mutation: :p.H241Q (human) CTD Direct Evidence: marker/mechanism 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 ClinVar OMIM RGD
PMID:10545951 PMID:16123366 PMID:25741868 PMID:28492532 PMID:28664602 PMID:34556497 PMID:11719843 PMID:16773428 PMID:17440689 PMID:15592940 PMID:10545951 PMID:18331410 More...
RGD:2313488 , RGD:2313482 , RGD:2313480 , RGD:2313486 , RGD:2313489 , RGD:2313478
NCBI chr 3:84,766,483...84,770,454
Ensembl chr 3:64,359,395...64,363,649
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Neurog3
neurogenin 3
ISO
RGD
PMID:17146417
RGD:2313775
NCBI chr20:30,622,533...30,624,015
Ensembl chr20:30,079,780...30,081,262
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Nfatc2
nuclear factor of activated T-cells 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:157,198,872...157,328,325
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Nfe2l1
NFE2 like bZIP transcription factor 1
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr10:82,296,824...82,309,472
Ensembl chr10:81,800,366...81,832,318
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP
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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Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17107852
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404
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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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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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Nog
noggin
IEP
mRNA, protein:increased expression:aorta
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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Nos1
nitric oxide synthase 1
IEP
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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Nos2
nitric oxide synthase 2
susceptibility
ISO IEP
DNA:insertion/deletion, repeat:promoter (human) protein:increased expression:retina protein:increased expression:liver (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16959961 PMID:19395279 PMID:18773271 PMID:21963495
RGD:2312484 , RGD:2313220 , RGD:5508747
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IEP ISO
CTD Direct Evidence: marker/mechanism
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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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18372903
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
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Nppa
natriuretic peptide A
ISO
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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Nppb
natriuretic peptide B
IEP ISO
protein:increased expression:plasma protein:increased expression:serum
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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Npy
neuropeptide Y
ISO
DNA:missense mutation:cds:p.L7P (human)
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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Nr0b2
nuclear receptor subfamily 0, group B, member 2
ISO
DNA:polymorphisms: :multiple
RGD
PMID:18781616
RGD:2311604
NCBI chr 5:151,063,160...151,066,475
Ensembl chr 5:145,779,294...145,782,609
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
treatment
IEP
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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Nr1h2
nuclear receptor subfamily 1, group H, member 2
ISO
RGD
PMID:20939869
RGD:13506790
NCBI chr 1:104,178,483...104,183,863
Ensembl chr 1:95,041,967...95,047,377
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
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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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IDA
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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Nucb2
nucleobindin 2
ISO IEP
mRNA:decreased expression:islet of Langerhans: protein:decreased expression:pancreas:
RGD
PMID:22108805 PMID:20032201
RGD:9831161 , RGD:9831177
NCBI chr 1:180,185,121...180,221,644
Ensembl chr 1:170,750,877...170,787,353
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926 PMID:33812996
NCBI chr20:32,354,519...32,381,265
Ensembl chr20:31,811,817...31,838,561
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Ogg1
8-oxoguanine DNA glycosylase
ISO
protein:increased expression:pancreatic islet, mitochondrion CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22652274 PMID:12003641
RGD:2317133
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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Oxct1
3-oxoacid CoA transferase 1
IEP
mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat)
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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P2ry12
purinergic receptor P2Y12
ISO
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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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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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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Pam
peptidylglycine alpha-amidating monooxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24464100 PMID:30054598
NCBI chr 9:105,445,812...105,719,287
Ensembl chr 9:98,122,916...98,271,965
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Pappa
pappalysin
ISO
protein:decreased expression:serum
RGD
PMID:17728480
RGD:2313776
NCBI chr 5:83,513,358...83,751,364
Ensembl chr 5:78,498,300...78,730,666
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Parl
presenilin associated, rhomboid-like
onset
ISO
DNA:missense mutation:cds:p.L262V (human) mRNA:decreased expression:vastus lateralis (human)
RGD
PMID:19185381 PMID:20444421
RGD:12880445 , RGD:12902628
NCBI chr11:94,097,559...94,124,915
Ensembl chr11:80,593,192...80,620,506
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Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:15895395
RGD:11075068
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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Pax4
paired box 4
onset
ISO IMP
DNA:polymorphism, mutations: :p.R192H, p.R164W, IVS7-1G>A (human) DNA:mutation: :p.R121W (human) CTD Direct Evidence: marker/mechanism 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 ClinVar OMIM RGD
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 PMID:17426099 PMID:12604352 More...
RGD:2311632 , RGD:2311635
NCBI chr 4:58,023,873...58,032,265
Ensembl chr 4:57,058,462...57,063,408
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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
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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
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Pck1
phosphoenolpyruvate carboxykinase 1
no_association
ISO IDA
DNA:SNPs (human)
RGD
PMID:18443203 PMID:17242918 PMID:19070910 PMID:16978381 PMID:16620271
RGD:2311640 , RGD:2311643 , RGD:2311639 , RGD:1601239 , RGD:1601241
NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:161,930,256...161,936,191
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Pcsk1
proprotein convertase subtilisin/kexin type 1
no_association
IDA IEP ISO
protein:altered expression:pancreatic islet (rat) DNA:missense mutations:cds:p.R53Q, p.Q638E (human) protein:decreased expression:pancreatic islet (mouse) protein:increased expression:pancreatic alpha cell (mouse)
RGD
PMID:17630003 PMID:12475375 PMID:8666140 PMID:18448419 PMID:18941442
RGD:2308898 , RGD:2298715 , RGD:2308935 , RGD:2308932 , RGD:2308930
NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:4,395,543...4,442,434
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Pcsk2
proprotein convertase subtilisin/kexin type 2
ISO
DNA:repeats:intron:IVS2CA (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16123366 PMID:7698505
RGD:2308936
NCBI chr 3:151,333,938...151,636,628
Ensembl chr 3:130,880,422...131,183,127
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Pdcd1
programmed cell death 1
ISO
protein:increased expression:kidney
RGD
PMID:23219834
RGD:7248672
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
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Pdx1
pancreatic and duodenal homeobox 1
no_association
ISO IEP
protein:decreased expression:pancreas (rat) protein:increased expression:pancreatic duct (mouse) DNA:insertion, polymorphism:cds:InsCCG243, Q59L, D76N (human) mRNA:increased expression:pancreatic islet (human) DNA:polymorphism:cds:D76N (human) DNA:deletion:exon 2 (mouse) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus
CTD RGD ClinVar OMIM
PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 PMID:11315851 PMID:11914043 PMID:12099699 PMID:12618559 PMID:12970316 PMID:14764823 PMID:15001545 PMID:15170499 PMID:15277425 PMID:15754742 PMID:16092045 PMID:16123366 PMID:16741735 PMID:17126328 PMID:17592437 PMID:19228875 PMID:19515026 PMID:20301620 PMID:21569088 PMID:24097065 PMID:24464100 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 PMID:31264968 PMID:19371350 PMID:17764693 PMID:9075799 PMID:10545531 PMID:15734849 PMID:15170499 PMID:9637677 More...
RGD:2311308 , RGD:2311305 , RGD:2311219 , RGD:2311221 , RGD:2311307 , RGD:2311306 , RGD:2311308 , RGD:2311217
NCBI chr12:12,793,957...12,799,156
Ensembl chr12:7,757,865...7,763,064
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:bone marrow stem cell (mouse)
RGD
PMID:21984919
RGD:6771358
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
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Pepd
peptidase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158537
NCBI chr 1:96,673,624...96,818,197
Ensembl chr 1:87,536,609...87,681,231
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Phox2a
paired-like homeobox 2a
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr 1:165,590,757...165,595,122
Ensembl chr 1:156,178,754...156,183,118
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Pik3c2a
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
ISO
mRNA:decreased expression:Islets of Langerhans
RGD
PMID:21127054
RGD:7243008
NCBI chr 1:180,012,248...180,117,786
Ensembl chr 1:170,577,942...170,683,472
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Pik3c2g
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma
susceptibility
ISO
DNA:SNP:cds:437C>T(human)
RGD
PMID:17991425
RGD:13506796
NCBI chr 4:174,215,527...174,583,378
Ensembl chr 4:172,484,345...172,850,544
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
treatment
ISO
RGD
PMID:11812753
RGD:13506799
NCBI chr 8:108,474,017...108,579,140
Ensembl chr 8:99,594,644...99,699,663
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31626838
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
susceptibility
IEP ISO
protein:increased phosphorylation:retina (rat) DNA:polymorphism: :
RGD
PMID:18443201 PMID:14551916
RGD:4108490 , RGD:11067972
NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631
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Pklr
pyruvate kinase L/R
susceptibility no_association
ISO
DNA:SNPs:introns,exons: DNA:SNP: :rs3020781(human)
RGD
PMID:12196482 PMID:19111066
RGD:13506801 , RGD:13506802
NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:174,543,039...174,551,870
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Pla2g7
phospholipase A2 group VII
ISO
RGD
PMID:22399516
RGD:6482782
NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476
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Plat
plasminogen activator, tissue type
ISO IEP
associated with Obesity mRNA:decreased expression:kidney protein:decreased expression:plasma (rat)
RGD
PMID:16724515 PMID:15901895 PMID:14693179 PMID:16038272 PMID:18235054 PMID:10899350 More...
RGD:2311670 , RGD:2311673 , RGD:2311675 , RGD:2311672 , RGD:2311665 , RGD:1598920
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
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Plaur
plasminogen activator, urokinase receptor
onset
ISO
protein:increased expression:plasma
RGD
PMID:22050462
RGD:6483792
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595
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Pld3
phospholipase D family, member 3
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:82,821,875...82,844,072
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Plekha1
pleckstrin homology domain containing A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr 1:194,858,239...194,909,418
Ensembl chr 1:185,428,048...185,479,156
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Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:83,647,748...83,665,063
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Pln
phospholamban
IEP
mRNA:decreased expression:heart left ventricle
RGD
PMID:22621761
RGD:7327183
NCBI chr20:33,166,512...33,182,241
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Pnpla3
patatin-like phospholipase domain containing 3
ISO
DNA:SNP: :rs738409 (p.I148M) (human)
RGD
PMID:31377187
RGD:14981594
NCBI chr 7:117,173,485...117,194,065
Ensembl chr 7:115,293,538...115,314,077
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Pomc
proopiomelanocortin
IEP
associated with alcohol use disorder
RGD
PMID:33057655
RGD:407431647
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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Pon1
paraoxonase 1
severity no_association
ISO
protein:decreased expression:serum protein:increased expression:serum DNA:polymorphism: :p.Q192R (human) associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:17949258 PMID:19328014 PMID:18290860 PMID:10677395 PMID:9591753
RGD:2313270 , RGD:2307252 , RGD:2313269 , RGD:8547560 , RGD:8547663
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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Pon2
paraoxonase 2
ISO
DNA:missense mutation:cds:p.S311C (human) associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human)
RGD
PMID:18776646 PMID:10677395
RGD:2313490 , RGD:8547560
NCBI chr 4:34,356,270...34,391,684
Ensembl chr 4:33,389,714...33,425,248
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17317762 PMID:31626838
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
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Ppard
peroxisome proliferator-activated receptor delta
ISO ISS
DNA:SNPs OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO RGD
PMID:16804087
RGD:1625186
NCBI chr20:6,300,527...6,365,707
Ensembl chr20:6,298,785...6,363,968
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Pparg
peroxisome proliferator-activated receptor gamma
susceptibility no_association
ISO
DNA:polymorphism: :p.P12A (human) DNA:snp:cds:p.P12A (human) CTD Direct Evidence: marker/mechanism|therapeutic 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: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus
OMIM CTD ClinVar RGD
PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:15254591 PMID:15592662 PMID:16123366 PMID:16249460 PMID:17317762 PMID:21484566 PMID:22461176 PMID:25157153 PMID:25741868 PMID:28182703 PMID:28492532 PMID:31626838 PMID:18394743 PMID:18776709 PMID:18598350 PMID:9918859 More...
RGD:2301861 , RGD:2301846 , RGD:2301851 , RGD:8552822
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
treatment susceptibility no_association
ISO IDA IEP
DNA:polymorphism:exon:p.G482S (human) DNA:hypermethylation:promoter:g.-383 (human) protein:decreased expression:vastus lateralis (human) DNA:snps:intron:IVS3+52T>G, IVS3+21963A>G (rs2946385, rs4235308) (human) DNA:polymorphism:exon:p.G482S (human, Pima Indians) protein:decreased expression:dorsal root ganglia mRNA:decreased expression:soleus muscle:type I muscle fiber (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15592662 PMID:17317762 PMID:18270681 PMID:23251491 PMID:23250358 PMID:23210442 PMID:18162502 PMID:12606537 PMID:22824914 PMID:22561641 PMID:17158179 More...
RGD:2311391 , RGD:7241849 , RGD:7241851 , RGD:7242009 , RGD:7242032 , RGD:7242043 , RGD:7242067 , RGD:7242175 , RGD:10059689
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
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Ppargc1b
PPARG coactivator 1 beta
no_association
ISO
DNA:polymorphism:exon:102605C>A
RGD
PMID:16759305
RGD:1642500
NCBI chr18:57,029,264...57,131,466
Ensembl chr18:54,758,902...54,861,194
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Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
no_association onset
ISO ISS
DNA:missense mutation:cds:p.D905Y (human) DNA:missense mutation: :p.D905Y (human) DNA:missense mutation::p.D905Y (human) DNA:missense mutations, polymorphisms:CDS, 3' UTR:p.R883S, p.D905Y (human) DNA:insertion/deletion ClinVar Annotator: match by term: INSULIN RESISTANCE, SEVERE, DIGENIC | ClinVar Annotator: match by term: PPP1R3A-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
OMIM ClinVar CTD MouseDO RGD
PMID:7581368 PMID:12118251 PMID:25741868 PMID:11793847 PMID:10868947 PMID:10389856 PMID:9726244 PMID:9653600 PMID:12831406 More...
RGD:2311560 , RGD:2311552 , RGD:2311532 , RGD:2311531 , RGD:2311515 , RGD:2311596
NCBI chr 4:43,905,648...43,946,236
Ensembl chr 4:42,939,599...42,980,638
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Ppp1r3c
protein phosphatase 1, regulatory subunit 3C
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr 1:243,873,524...243,878,527
Ensembl chr 1:234,460,652...234,465,961
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Ppp2ca
protein phosphatase 2 catalytic subunit alpha
IEP
mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat)
RGD
PMID:22087313
RGD:8693665
NCBI chr10:36,856,534...36,878,789
Ensembl chr10:36,358,101...36,377,862
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
IMP
RGD
PMID:20054491
RGD:2316808
NCBI chr 2:55,967,766...56,003,450
Ensembl chr 2:54,240,137...54,275,978
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:16567511
RGD:1625266
NCBI chr 5:125,036,945...125,109,010
Ensembl chr 5:119,813,226...119,879,543
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Prkcb
protein kinase C, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15531508
NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:176,832,226...177,163,536
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Prkce
protein kinase C, epsilon
IEP
mRNA,protein:decreased expression:liver:
RGD
PMID:26398746
RGD:13506804
NCBI chr 6:13,718,050...14,204,931
Ensembl chr 6:7,965,048...8,451,719
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Prkci
protein kinase C, iota
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr 2:114,250,398...114,310,784
Ensembl chr 2:112,321,929...112,382,352
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Prkcz
protein kinase C, zeta
IEP
mRNA,protein:decreased expression:liver,pancreas:
RGD
PMID:26398746
RGD:13506804
NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:165,819,466...165,930,367
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Prkn
parkin RBR E3 ubiquitin protein ligase
IEP
protein:decreased expression:cerebral cortex (rat)
RGD
PMID:28573460
RGD:13432564
NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555
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Prox1
prospero homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20081858
NCBI chr13:104,196,615...104,251,007
Ensembl chr13:101,669,184...101,711,183
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Prx
periaxin
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:82,786,815...82,807,407
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Psmc4
proteasome 26S subunit, ATPase 4
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:83,348,592...83,357,494
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Psmd6
proteasome 26S subunit, non-ATPase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158537
NCBI chr15:13,532,675...13,542,682
Ensembl chr15:11,102,180...11,205,620
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
NCBI chr17:86,959,621...86,961,475
Ensembl chr17:82,051,281...82,053,135
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Ptgds
prostaglandin D2 synthase
IEP
protein:increased expression:urine
RGD
PMID:16384826
RGD:1642580
NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:8,281,899...8,284,833
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Ptgis
prostaglandin I2 synthase
ISO
protein:decreased expression:hypodermis (human)
RGD
PMID:24225501
RGD:401901153
NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
RGD
PMID:18706904
RGD:2300222
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Pth
parathyroid hormone
ISO
DNA:snp:exon:g.350C>A rs6256 (human)
RGD
PMID:22777106
RGD:7242744
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:CDS:p.P387L (human) ClinVar Annotator: match by term: PTPN1-related condition
OMIM CTD ClinVar RGD
PMID:25741868 PMID:28492532 PMID:15715684 PMID:11756316
RGD:401965404 , RGD:401965405
NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:156,638,769...156,687,504
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Ptprd
protein tyrosine phosphatase, receptor type, D
susceptibility
ISO
associated with Environmental Illness; DNA:SNP:intron: (rs16927668) (Human)
RGD
PMID:27281273
RGD:401850598
NCBI chr 5:95,093,221...97,415,498
Ensembl chr 5:90,048,966...92,369,396
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Rarres2
retinoic acid receptor responder 2
IEP
protein:increased expression:multiple:
RGD
PMID:30873215
RGD:15036825
NCBI chr 4:78,853,450...78,856,652
Ensembl chr 4:77,522,535...77,525,556
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Rbfox2
RNA binding fox-1 homolog 2
ISO
mRNA:splice variant: heart (human)
RGD
PMID:27239029
RGD:329845874
NCBI chr 7:110,691,230...110,934,901
Ensembl chr 7:108,810,628...109,054,691
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Rbp4
retinol binding protein 4
susceptibility disease_progression severity
IEP ISO
protein:increased expression:serum DNA:polymorphism protein:increased expression:blood plasma (human) mRNA:increased expression:epicardial fat (human) protein:increased expression:blood serum (human) associated with arteriosclerosis and chronic kidney disease;protein:increased expression:blood plasma (human) DNA:SNP:promoter:-803G>A (human)
RGD
PMID:19080170 PMID:19506831 PMID:17174134 PMID:24647386 PMID:21645024 PMID:20058618 PMID:20436266 PMID:17875187 PMID:18496666 PMID:18973209 More...
RGD:2311652 , RGD:2311651 , RGD:1601615 , RGD:329845577 , RGD:329845584 , RGD:329845844 , RGD:329845851 , RGD:329845855 , RGD:329845878 , RGD:329849119
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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Rbpj
recombination signal binding protein for immunoglobulin kappa J region
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | 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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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 3:173,553,389...173,565,869
Ensembl chr 3:153,134,140...153,146,513
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Reg3b
regenerating family member 3 beta
IEP
mRNA:increased expression:islet of Langerhans (rat)
RGD
PMID:24587207
RGD:9831427
NCBI chr 4:112,419,776...112,423,014
Ensembl chr 4:110,861,775...110,865,015
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Retn
resistin
no_association susceptibility
ISO
DNA:polymorphism: :299G>A (human) DNA:SNP:3' utr:*62A>G (human) DNA:SNP:promoter:-420G>C (rs1862513) (human) protein:increased expression:serum DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) protein:decreased expression:serum ClinVar Annotator: match by term: HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:11558907 PMID:12629116 PMID:19177195 PMID:12629116 PMID:19738363 PMID:19269054 PMID:19381781 PMID:15523596 More...
RGD:2313498 , RGD:1624968 , RGD:2313494 , RGD:2313497 , RGD:2313495 , RGD:7207163
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620
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Rinl
Ras and Rab interactor-like
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,204,543...93,215,851
Ensembl chr 1:84,077,265...84,088,330
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Rnf6
ring finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr12:13,929,160...13,940,663
Ensembl chr12:8,816,833...8,826,847
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Rps16
ribosomal protein S16
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,770,658...92,773,603
Ensembl chr 1:83,643,130...83,646,206 Ensembl chr19:83,643,130...83,646,206
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Rrad
RRAD, Ras related glycolysis inhibitor and calcium channel regulator
ISO
associated with Obesity;DNA:polymorphism:intron:4681C>T (human) DNA:repeat:intron (human)
RGD
PMID:15161552 PMID:10024077
RGD:2311704 , RGD:2311705
NCBI chr19:360,581...363,874
Ensembl chr19:354,198...357,417
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
RGD
PMID:16331578
RGD:2301814
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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S100a6
S100 calcium binding protein A6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16123366
NCBI chr 2:178,398,189...178,399,763
Ensembl chr 2:176,100,899...176,102,180
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Samd4b
sterile alpha motif domain containing 4B
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,816,955...92,855,243
Ensembl chr 1:83,689,413...83,713,853
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Sars2
seryl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:93,156,514...93,171,943
Ensembl chr 1:84,028,986...84,040,725
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Scn1b
sodium voltage-gated channel beta subunit 1
IEP
mRNA:increased expression:heart ventricle
RGD
PMID:22581745
RGD:6484255
NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:86,353,917...86,363,739
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Sctr
secretin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr13:33,680,562...33,744,049
Ensembl chr13:31,127,858...31,180,189
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Sdc2
syndecan 2
ISO
protein:increased expression:kidney
RGD
PMID:14976204
RGD:2311706
NCBI chr 7:66,012,405...66,125,101
Ensembl chr 7:64,127,110...64,241,081
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Sdc4
syndecan 4
ISO
mRNA:increased expression:kidney ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar RGD
PMID:14633120
RGD:2311707
NCBI chr 3:173,574,239...173,592,923
Ensembl chr 3:153,154,896...153,173,580
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Sdf2l1
stromal cell-derived factor 2-like 1
susceptibility
IAGP
DNA:deletion:exons, introns:g.3_910del (rat)
RGD
PMID:27463508
RGD:11528530
NCBI chr11:97,376,878...97,379,120
Ensembl chr11:83,872,659...83,874,902
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISS
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
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Selenov
selenoprotein V
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:83,551,473...83,558,756
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Sell
selectin L
no_association
ISO
RGD
PMID:22119815
RGD:7175303
NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456
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Selp
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:17598012
RGD:2312303
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845
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Serpina12
serpin family A member 12
treatment
IDA
RGD
PMID:16030142
RGD:1547845
NCBI chr 6:128,717,334...128,732,049
Ensembl chr 6:122,952,552...122,967,271
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Serpinc1
serpin family C member 1
ISO
protein:increased activity:plasma (human)
RGD
PMID:7974333
RGD:2312416
NCBI chr13:75,790,558...75,804,826
Ensembl chr13:73,257,179...73,284,293
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Serpine1
serpin family E member 1
no_association treatment
ISO IEP IDA
DNA:polymorphism: mRNA:increased expression:kidney protein:decreased expression:plasma (human)
RGD
PMID:16855181 PMID:19706694 PMID:8236167 PMID:14614217
RGD:1624959 , RGD:2316116 , RGD:8547723 , RGD:2312394
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
treatment severity
ISO IEP IMP
protein:increased expression:serum protein:increased expression:plasma (rat) human protein in a rat model
RGD
PMID:18715664 PMID:17653050 PMID:24530621 PMID:24530621
RGD:2312340 , RGD:8554888 , RGD:8655541 , RGD:8655541
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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Sfrp4
secreted frizzled-related protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23140642
NCBI chr17:49,974,532...50,026,448
Ensembl chr17:45,234,097...45,330,736
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Sgcg
sarcoglycan, gamma
susceptibility
ISO
DNA:SNP: : rs9552911(human)
RGD
PMID:28123479
RGD:13605620
NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148
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Shbg
sex hormone binding globulin
susceptibility
ISO
DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21982312 PMID:19657112
RGD:2313782
NCBI chr10:54,831,716...54,849,162
Ensembl chr10:54,332,941...54,351,057
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Sirt1
sirtuin 1
treatment
ISO IMP
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23834033 PMID:18046409 PMID:19549853
RGD:9585769 , RGD:9585997
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
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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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Sirt3
sirtuin 3
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:23397292
RGD:9586042
NCBI chr 1:205,371,703...205,394,145
Ensembl chr 1:195,942,073...195,964,808
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Slc1a2
solute carrier family 1 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr 3:109,460,109...109,590,445
Ensembl chr 3:89,005,129...89,126,498
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Slc22a3
solute carrier family 22 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr 1:50,783,218...50,872,358
Ensembl chr 1:48,235,476...48,324,612
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Slc2a1
solute carrier family 2 member 1
no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9589670 PMID:18613291 PMID:9789717 PMID:7516306
RGD:2312306 , RGD:2312290 , RGD:2312289
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
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Slc2a2
solute carrier family 2 member 2
susceptibility
ISO ISS
DNA:SNPs (human) DNA:point mutation:exon:p.V197I (human) CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type 2 diabetes mellitus
OMIM CTD MouseDO ClinVar RGD
PMID:8027028 PMID:8063045 PMID:9354798 PMID:11810292 PMID:13480676 PMID:15397919 PMID:16123366 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 PMID:17636114 PMID:8027028 More...
RGD:2312359 , RGD:1624252
NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:111,611,774...111,639,933
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Slc2a3
solute carrier family 2 member 3
ISO
protein:decreased expression:granulocyte, lymphocyte, monocyte
RGD
PMID:19110659
RGD:2313602
NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472
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Slc2a4
solute carrier family 2 member 4
ISO ISS
DNA:point mutation:exon:p.V383I (human) CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type 2 diabetes mellitus
CTD MouseDO ClinVar RGD
PMID:1397719 PMID:1918382 PMID:7814014 PMID:11947963 PMID:17107852 PMID:22384078 PMID:25741868 PMID:31626838 PMID:18653321 PMID:1918382 More...
RGD:2313625 , RGD:1625188
NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565
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Slc30a8
solute carrier family 30 member 8
susceptibility
ISO
CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: SLC30A8-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus
CTD OMIM ClinVar
PMID:17293876 PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:19479076 PMID:19542200 PMID:20424817 PMID:21461562 PMID:21779873 PMID:24584071 PMID:25741868 PMID:31676859 More...
NCBI chr 7:85,481,864...85,517,255
Ensembl chr 7:83,591,993...83,626,305
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Slc9a1
solute carrier family 9 member A1
IEP
mRNA, protein:decreased expression:heart
RGD
PMID:22009485
RGD:6771327
NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:145,576,334...145,629,624
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Slpi
secretory leukocyte peptidase inhibitor
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:153,082,369...153,084,453
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Smad4
SMAD family member 4
treatment
IEP
RGD
PMID:25017203
RGD:12880049
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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Smad5
SMAD family member 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20079400
NCBI chr17:7,867,640...7,896,983
Ensembl chr17:7,864,720...7,891,634
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Smc1a
structural maintenance of chromosomes 1A
IEP
mRNA:increased expression:testis:
RGD
PMID:33775663
RGD:155631260
NCBI chr X:24,582,732...24,627,462
Ensembl chr X:21,103,282...21,148,056
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Smim43
small integral membrane protein 43
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr 2:121,304,262...121,314,779
Ensembl chr 2:119,385,754...119,385,945
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Snap25
synaptosome associated protein 25
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
CTD MouseDO
PMID:16123366
NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:124,041,898...124,123,760
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Soat1
sterol O-acyltransferase 1
ISO
mRNA:increased expression:peritoneal macrophage (mouse)
RGD
PMID:26606676
RGD:126925207
NCBI chr13:71,105,178...71,147,776
Ensembl chr13:68,552,317...68,597,494
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Socs3
suppressor of cytokine signaling 3
treatment
ISO IEP
mRNA:increased expression:skeletal muscle
RGD
PMID:17513737 PMID:15331532 PMID:29110587
RGD:2313788 , RGD:2313790 , RGD:13506806
NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,193,537...103,197,787
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Sod1
superoxide dismutase 1
ISO
protein:decreased expression:erythrocyte DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15531508 PMID:19317795 PMID:18423055 PMID:16005359
RGD:2312363 , RGD:2312364 , RGD:1581216
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
DNA:polymorphism: :p.A16V (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15531508 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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Sod3
superoxide dismutase 3
ISO
RGD
PMID:15990193
RGD:1581225
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
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Sorbs1
sorbin and SH3 domain containing 1
ISO
DNA:SNP: :p.T228A (human)
RGD
PMID:11532984
RGD:1642744
NCBI chr 1:249,057,324...249,279,703
Ensembl chr 1:239,108,777...239,330,169
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Sphk1
sphingosine kinase 1
ISO
RGD
PMID:17265031
RGD:2311390
NCBI chr10:102,257,413...102,263,086
Ensembl chr10:101,758,711...101,764,240
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO IMP
protein:increased tyrosine phosphorylation:platelets
RGD
PMID:15542065 PMID:19230846
RGD:1601373 , RGD:2307340
NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476
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Srd5a1
steroid 5 alpha-reductase 1
IEP
mRNA:increased expression:adrenal gland (rat)
RGD
PMID:17884440
RGD:4891894
NCBI chr 1:35,514,914...35,548,898
Ensembl chr 1:33,686,391...33,720,461
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Srebf1
sterol regulatory element binding transcription factor 1
susceptibility
ISO IEP
DNA:SNPs mRNA:increased expression:liver
RGD
PMID:18692268 PMID:19357831
RGD:2308809 , RGD:2308802
NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650
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Srebf1_v2
sterol regulatory element binding factor 1, variant 2
IEP
mRNA:increased expression:liver
RGD
PMID:19357831
RGD:2308802
G
Srebf2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:15644403
RGD:1581419
NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848
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St6gal1
ST6 beta-galactoside alpha-2,6-sialyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21874001
NCBI chr11:91,031,481...91,158,111
Ensembl chr11:77,526,837...77,653,310
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Star
steroidogenic acute regulatory protein
IEP
mRNA:decreased expression:testis, Leydig cell (rat)
RGD
PMID:18481435
RGD:4889107
NCBI chr16:72,969,824...72,974,447
Ensembl chr16:66,264,807...66,271,672
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:skeletal muscle
RGD
PMID:23043161
RGD:8694321
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Supt5h
SPT5 homolog, DSIF elongation factor subunit
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:83,586,718...83,616,892
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Sycn
syncollin
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,950,761...92,961,077
Ensembl chr 1:83,832,102...83,833,538
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Tcf7l2
transcription factor 7 like 2
susceptibility
IEP ISO
DNA:SNPs: :multiple (human) DNA:SNP (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: TCF7L2-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus
CTD OMIM ClinVar RGD
PMID:16415884 PMID:17206141 PMID:17245407 PMID:17340123 PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17470138 PMID:17503332 PMID:17609304 PMID:17671651 PMID:18097733 PMID:19602480 PMID:20118932 PMID:21673050 PMID:23104008 PMID:25741868 PMID:28492532 PMID:28869590 PMID:19386626 PMID:19482368 PMID:19509102 More...
RGD:2312454 , RGD:2312453 , RGD:2312433
NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967
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Tgfb1
transforming growth factor, beta 1
ISO IEP
protein:increased expression:urine mRNA,protein:increased expression:heart:
RGD
PMID:18646321 PMID:24613393
RGD:2306740 , RGD:11073674
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
protein:increased expression:aorta
RGD
PMID:11947899
RGD:1601600
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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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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Thada
THADA, armadillo repeat containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18372903
NCBI chr 6:15,936,593...16,240,523
Ensembl chr 6:10,183,982...10,487,159
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Thbd
thrombomodulin
disease_progression
ISO IEP
protein:increased expression:plasma mRNA:decreased expression:blood vessel endothelial cell
RGD
PMID:11738074 PMID:17090405 PMID:17195062
RGD:2312458 , RGD:1601648 , RGD:2312457
NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193
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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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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16023759 PMID:16005367
RGD:1580148
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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Timp3
TIMP metallopeptidase inhibitor 3
disease_progression
ISO IEP
mRNA:decreased expression:skeletal muscle associated with Femoral Fractures;
RGD
PMID:19633828 PMID:31691506
RGD:2312470 , RGD:151893486
NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839
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Tjp1
tight junction protein 1
ISO
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
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:gingiva
RGD
PMID:24878329
RGD:597538517
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
no_association
ISO IEP
DNA:polymorphisms: :p.N299G, p.T399I (human) protein:increased expression:monocyte mRNA:increased expression:gingiva
RGD
PMID:14578307 PMID:16728431 PMID:19395279 PMID:19010563 PMID:24878329
RGD:2312494 , RGD:2312492 , RGD:2312484 , RGD:2312680 , RGD:597538517
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tmem18
transmembrane protein 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr 6:52,934,419...52,941,868
Ensembl chr 6:47,206,845...47,214,294
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Tnf
tumor necrosis factor
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24513509 PMID:20559450 PMID:28843383
RGD:5130987 , RGD:14975146
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
severity
ISO
protein:increased expression:serum
RGD
PMID:22050177
RGD:7205512
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf1a
TNF receptor superfamily member 1A
IEP ISO
mRNA:increased expression:coronary artery (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11882518 PMID:20559450
RGD:5130987
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11882518
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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Trpc1
transient receptor potential cation channel, subfamily C, member 1
IEP
protein:increased expression:artery smooth muscle
RGD
PMID:20337661
RGD:7247596
NCBI chr 8:105,142,931...105,193,842
Ensembl chr 8:96,263,329...96,314,276
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
IEP
protein:increased expression:artery smooth muscle
RGD
PMID:20337661
RGD:7247596
NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092
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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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Ube2e2
ubiquitin-conjugating enzyme E2E 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism associated with Environmental Illness; DNA:SNP:: (rs1496653) (human)
CTD RGD
PMID:20818381 PMID:27281273
RGD:401850598
NCBI chr15:9,411,067...9,688,731
Ensembl chr15:6,980,474...7,257,532
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Ucp1
uncoupling protein 1
ISO
DNA:polymorphisms:5' utr, exon:-112A>C (rs10011540), p.M229L (human)
RGD
PMID:11317671
RGD:2313631
NCBI chr19:41,713,350...41,721,421
Ensembl chr19:24,808,783...24,816,852
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Ucp2
uncoupling protein 2
no_association
IDA ISO IEP
associated with Obesity mRNA:increased expression:brown fat, white fat, skeletal muscle DNA:polymorphism:exon (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15562023 PMID:16123366 PMID:15356383 PMID:11587528 PMID:10382588 PMID:18344121 PMID:11440717 More...
RGD:2313517 , RGD:2313630 , RGD:2313525 , RGD:7175300 , RGD:737760
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611
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Ucp3
uncoupling protein 3
no_association susceptibility
ISO IDA
mRNA:altered expression:white fat, skeletal muscle DNA:SNP:exon:p.V102I (human) associated with Obesity DNA:polymorphism:promoter:-55C>T (human) protein:decreased expression:skeletal muscle associated with Obesity;DNA:SNPs:exon, 3' utr:rs1800006, rs647126 (human) ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A
ClinVar RGD
PMID:9769326 PMID:25741868 PMID:28492532 PMID:11587528 PMID:9769326 PMID:15356383 PMID:11484089 PMID:11723073 PMID:11126413 PMID:18223008 More...
RGD:2313630 , RGD:1625189 , RGD:2313517 , RGD:2313522 , RGD:2313521 , RGD:2313523 , RGD:2313511
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
IEP
mRNA,protein:increased expression,increased activity:intestine, colon:
RGD
PMID:23545594
RGD:10769362
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a6
UDP glucuronosyltransferase family 1 member A6
IEP
mRNA,protein:increased expression,increased activity:intestine, colon:
RGD
PMID:23545594
RGD:10769362
NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a7c
UDP glucuronosyltransferase 1 family, polypeptide A7C
IEP
mRNA,protein:increased expression,increased activity:intestine, colon:
RGD
PMID:23545594
RGD:10769362
NCBI chr 9:96,187,382...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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Usf1
upstream transcription factor 1
no_association susceptibility
ISO
DNA:SNPs:intron, 3' utr:multiple (human) DNA:SNP: :rs3737787 (human) DNA:SNP: :rs2073658 (human)
RGD
PMID:16186412 PMID:18593823 PMID:18445538
RGD:2313794 , RGD:2313792 , RGD:2313793
NCBI chr13:86,377,679...86,385,523
Ensembl chr13:83,822,035...83,854,885
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Usp48
ubiquitin specific peptidase 48
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30718926
NCBI chr 5:155,083,520...155,151,208
Ensembl chr 5:149,800,179...149,867,719
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Uts2
urotensin 2
susceptibility
ISO
DNA:polymorphism protein:increased expression:skeletal muscle protein:increased expression:plasma DNA:polymorphism: :p.S89N
RGD
PMID:18067077 PMID:19323985 PMID:15476950 PMID:15476949
RGD:2306799 , RGD:2306785 , RGD:2306806 , RGD:2306807
NCBI chr 5:166,725,471...166,739,063
Ensembl chr 5:161,450,846...161,456,237
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Uts2r
urotensin 2 receptor
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:19323985
RGD:2306785
NCBI chr10:106,936,398...106,937,558
Ensembl chr10:106,438,092...106,439,252
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:18619052
RGD:2312765
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
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Vdr
vitamin D receptor
ISO
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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Vegfa
vascular endothelial growth factor A
ISO
mRNA, protein:increased expression:ventricle myocardium
RGD
PMID:16139132
RGD:2313728
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Vps26a
VPS26 retromer complex component A
susceptibility
ISO
CTD Direct Evidence: marker/mechanism associated with Environmental Illness;DNA:SNP:: (rs12242953) (human)
CTD RGD
PMID:21874001 PMID:27281273
RGD:401850598
NCBI chr20:30,947,018...30,976,964
Ensembl chr20:30,404,325...30,434,131
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Wfs1
wolframin ER transmembrane glycoprotein
no_association susceptibility
ISO
DNA:SNP: :rs752854 (human) DNA:SNPs: :rs734312, rs752854, rs10010131 (human) DNA:SNPs, haplotype: :rs734312, rs752854, rs10010131 (human) CTD Direct Evidence: marker/mechanism 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: 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: HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO | 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 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
OMIM CTD ClinVar RGD
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:37508961 PMID:37510321 PMID:37719678 PMID:38400873 PMID:18040659 PMID:18060660 PMID:21713316 PMID:12107816 PMID:11916957 More...
RGD:8694394 , RGD:8694399 , RGD:8694400 , RGD:8694401 , RGD:8694405
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602
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Wrn
WRN RecQ like helicase
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar RGD
PMID:20443122 PMID:25741868 PMID:28492532 PMID:18295300
RGD:10042987
NCBI chr16:65,466,552...65,602,951
Ensembl chr16:58,763,504...58,895,450
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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 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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Zc3hc1
zinc finger, C3HC-type containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869590
NCBI chr 4:59,957,402...59,979,336
Ensembl chr 4:58,989,987...59,011,933
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Zfand3
zinc finger AN1-type containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158537
NCBI chr20:8,084,898...8,281,093
Ensembl chr20:8,082,200...8,279,616
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Zfp11
zinc finger protein 11
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr12:32,664,312...32,676,940
Ensembl chr12:27,028,115...27,041,365
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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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Znf780b
zinc finger protein 780B
ISO
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar
PMID:28492532
NCBI chr 1:92,136,761...92,159,076
Ensembl chr 1:83,009,189...83,082,107
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A2m
alpha-2-macroglobulin
treatment
ISO
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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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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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:decreased expression:aqueous humor:
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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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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Pdgfb
platelet derived growth factor subunit B
ISO
protein:decreased 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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Lrrc32
leucine rich repeat containing 32
ISO
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay
OMIM ClinVar
PMID:25741868 PMID:30976112
NCBI chr 1:162,196,995...162,209,563
Ensembl chr 1:152,786,511...152,798,373
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Ace
angiotensin I converting enzyme
ISO
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3
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...
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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Adcy3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr 6:32,819,602...32,923,174
Ensembl chr 6:27,124,828...27,203,686
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Adcy8
adenylate cyclase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr 7:98,306,434...98,555,687
Ensembl chr 7:96,417,324...96,665,911
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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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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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Ass1
argininosuccinate synthase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25033204
NCBI chr 3:35,144,765...35,194,632
Ensembl chr 3:14,747,368...14,796,903
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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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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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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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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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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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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
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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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
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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
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
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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
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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
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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
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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
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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
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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
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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
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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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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
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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
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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
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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
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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
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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
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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
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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...
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
IEP
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel
RGD
PMID:10625572
RGD:2300063
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
G
Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440
G
Thbs2
thrombospondin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr 1:64,343,523...64,372,918
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
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
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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
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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
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H19
H19 imprinted maternally expressed transcript
ameliorates
ISO
RNA:increased expression:foot (human)
RGD
PMID:33174326 PMID:33174326
RGD:156451663 , RGD:156451663
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
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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
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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
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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
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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
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Mbl2
mannose binding lectin 2
ISO
protein:increased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:237,429,873...237,465,567
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Mir17
microRNA 17
ISO
RGD
PMID:36333728
RGD:329349308
NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712
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Mir210
microRNA 210
ISO
miRNA:increased expression:blood serum, foot (human)
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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Mmp9
matrix metallopeptidase 9
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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Notch1
notch receptor 1
ISO
protein:increased expression:skin, epidermis:
RGD
PMID:30886104
RGD:155646129
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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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
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Ptx3
pentraxin 3
ISO
protein:decreased expression:plasma (human)
RGD
PMID:30767386
RGD:38501100
NCBI chr 2:152,797,563...152,803,372
Ensembl chr 2:150,487,513...150,493,323
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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
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
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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
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Acp1
acid phosphatase 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:12495297
RGD:2313184
NCBI chr 6:53,233,937...53,249,576
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
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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
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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
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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
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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
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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 chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
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Aoc3
amine oxidase, copper containing 3
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:11522499
RGD:2313826
NCBI chr10:86,773,018...86,780,961
G
Apoa4
apolipoprotein A4
ISO
protein:increased expression:vitreous humor (human)
RGD
PMID:19081814
RGD:5685692
NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
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Apob
apolipoprotein B
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:19448981
RGD:2313976
NCBI chr 6:36,563,704...36,603,300
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 8:55,428,172...55,430,352
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
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Apoh
apolipoprotein H
ISO
protein:increased expression:vitreous humor
RGD
PMID:18695102
RGD:2313982
NCBI chr10:93,841,992...93,855,897
Ensembl chr10:93,310,977...93,356,329
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Aqp4
aquaporin 4
IMP
RGD
PMID:22449442
RGD:8695996
NCBI chr18:6,782,389...6,799,034
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
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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 8:132,629,097...132,660,980
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 chr13:109,008,786...109,029,317
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 chr17:34,927,221...35,479,827
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 chr14:15,989,066...15,991,263
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 chr19:67,396,143...67,404,214
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 chr12:27,604,983...27,648,413
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 5:153,436,262...153,453,512
Ensembl chr 5:148,152,700...148,169,972
G
Gad2
glutamate decarboxylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21412422
NCBI chr17:89,671,718...89,734,246
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 chr14:18,916,255...18,951,670
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 chr20:8,665,061...8,683,095
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 2:198,338,005...198,346,007
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 chr20:12,856,068...12,873,020
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 chr17:41,841,302...41,849,359
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 2:48,253,412...48,354,509
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 chr13:87,334,510...87,367,747
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 5:154,066,436...154,121,913
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 chr20:3,622,291...3,625,852
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 3:29,813,174...29,813,246
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 chr15:51,926,088...51,926,169
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 5:114,877,112...114,981,463
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 2:62,592,557...62,660,497
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 chr19:73,256,557...73,411,705
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 chr19:50,662,168...50,683,457
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
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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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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Ppargc1a
PPARG coactivator 1 alpha
IDA IEP
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)
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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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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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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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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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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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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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
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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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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
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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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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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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 1:190,668,803...190,702,500
Ensembl chr 1:181,238,468...181,274,781
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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
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Slit2
slit guidance ligand 2
IEP
mRNA,protein:increased expression:retina
RGD
PMID:28973045
RGD:243048421
NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948
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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
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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
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Stra6
signaling receptor and transporter of retinol STRA6
treatment
ISO
associated with type 2 diabetes mellitus
RGD
PMID:30096827
RGD:155631301
NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:58,549,736...58,568,860
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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
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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 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440
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Timm44
translocase of inner mitochondrial membrane 44
IEP
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina
RGD
PMID:22003103
RGD:13463597
NCBI chr12:7,410,424...7,428,179
Ensembl chr12:2,612,581...2,629,351
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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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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:
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
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Uts2
urotensin 2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:18338983
RGD:2306795
NCBI chr 5:166,725,471...166,739,063
Ensembl chr 5:161,450,846...161,456,237
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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
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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
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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...
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
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Vps26a
VPS26 retromer complex component A
susceptibility
ISO
DNA:SNP:: (rs1802295) (Human)
RGD
PMID:28821857
RGD:401850599
NCBI chr20:30,947,018...30,976,964
Ensembl chr20:30,404,325...30,434,131
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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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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
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Wfs1
wolframin ER transmembrane glycoprotein
susceptibility
ISO
DNA:SNP:: (rs10010131) (Human)
RGD
PMID:28821857
RGD:401850599
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602
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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 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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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
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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
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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:21465660 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:37652022 PMID:37679847 PMID:37685926 PMID:37904629 PMID:38247853 PMID:38254962 PMID:38473809 PMID:38489124 PMID:38630155 PMID:38691546 PMID:39825153 PMID:12196663 More...
RGD:1580516
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423
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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
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
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:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
G
Cald1
caldesmon 1
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932
G
Calu
calumenin
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr 4:58,914,456...58,941,957
Ensembl chr 4:57,948,997...57,976,593
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
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
G
Ccn1
cellular communication network factor 1
ISO
protein:increased expression:vitreous body (human)
RGD
PMID:22160564
RGD:329845551
NCBI chr 2:237,222,730...237,225,689
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 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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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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Coro1c
coronin 1C
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr12:48,373,573...48,445,718
Ensembl chr12:42,712,991...42,785,179
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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
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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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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
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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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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
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Mir29a
microRNA 29a
ISO
miRNA:increased expression:vitreous humor (human)
RGD
PMID:24970617
RGD:155882576
NCBI chr 4:60,617,955...60,618,042
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Mir320a
microRNA 320a
ISO
miRNA:increased expression:blood serum, vitreous humor (human)
RGD
PMID:24970617
RGD:155882576
NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473
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Mir423
microRNA 423
ISO
miRNA:decreased expression:serum
RGD
PMID:31422516
RGD:158014897
NCBI chr10:62,412,272...62,412,350
Ensembl chr10:61,914,133...61,914,226
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Mir93
microRNA 93
ISO
miRNA:increased expression:vitreous humor (human)
RGD
PMID:24970617
RGD:155882576
NCBI chr12:22,156,844...22,156,930
Ensembl chr12:17,043,135...17,043,221
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Pdgfb
platelet derived growth factor subunit B
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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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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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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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
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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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Serpinf1
serpin family F member 1
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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Slit2
slit guidance ligand 2
ISO
associated with eye disease; protein:increased expression:vitreous
RGD
PMID:28973045
RGD:243048421
NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948
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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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Timm44
translocase of inner mitochondrial membrane 44
ISO
mRNA:decreased expression:retina
RGD
PMID:22003103
RGD:13463597
NCBI chr12:7,410,424...7,428,179
Ensembl chr12:2,612,581...2,629,351
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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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Pdgfrb
platelet derived growth factor receptor beta
ISS
MouseDO
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Capn10
calpain 10
ISO
ClinVar Annotator: match by term: CAPN10-related condition | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11017071 PMID:11481585 PMID:12107250 PMID:12161543 PMID:14574648 PMID:14602801 PMID:15240652 PMID:16721485 PMID:25741868 PMID:25773692 PMID:28492532 More...
NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:93,498,478...93,510,494
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
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...
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
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:20133622 PMID:20226046 PMID:20301620 PMID:20938745 PMID:20948967 PMID:21592955 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:30977832 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32252216 PMID:32792356 PMID:32916194 PMID:32994272 PMID:33852861 PMID:33953728 PMID:34584998 PMID:34593315 PMID:34789499 More...
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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Lipc
lipase C, hepatic type
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
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...
NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464
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Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
ClinVar
PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 PMID:33953728 More...
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
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Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 5 | ClinVar Annotator: match by term: TBC1D4-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:84,670,756...84,848,876
Ensembl chr15:78,257,121...78,434,265
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