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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 1 diabetes mellitus
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Accession:DOID:9744 term browser browse the term
Definition:A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. (DO)
Synonyms:exact_synonym: IDDM;   IDDM1;   IDDMX;   Insulin-Dependent Diabetes Mellitus 1;   T1D;   autoimmune diabetes;   brittle diabetes mellitus;   diabetes mellitus, type I;   insulin-dependent diabetes mellitus;   juvenile-onset diabetes mellitus;   sudden-onset diabetes mellitus;   type 1 diabetes
 narrow_synonym: JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1;   JUVENILE-ONSET DIABETES;   idiopathic type 1 diabetes;   neonatal insulin-dependent diabetes mellitus;   virus-induced diabetes
 related_synonym: DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO;   Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to
 primary_id: MESH:D003922
 alt_id: OMIM:222100;   OMIM:300136
 xref: EFO:0001359;   EFO:0009757;   GARD:10268;   MONDO:0005147;   NCI:C2986


show annotations for term's descendants           Sort by:
type 1 diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2210016L21Rik RIKEN cDNA 2210016L21 gene ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:25741868 NCBI chr 5:115,080,213...115,086,610
Ensembl chr 5:115,080,217...115,087,842 		JBrowse link
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18025464 NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457 		JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 disease progression ISO protein:increased activity:serum (human)
DNA:deletion:intron:IVS16+1464-1751del (human)		 RGD PMID:1336356 PMID:9025006 RGD:7829770, RGD:7829799 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:2658981 RGD:2312438 NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728 		JBrowse link
G Acp1 acid phosphatase 1, soluble onset ISO RGD PMID:15586390 PMID:11912546 RGD:2313182, RGD:2313186 NCBI chr12:30,943,325...30,961,616
Ensembl chr12:30,943,325...30,961,588 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Adrb1 adrenergic receptor, beta 1 ISO RGD PMID:21491159 RGD:6893642 NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IDA
ISO
IEP		 DNA:SNP, haplotype: :557G>A (p.G82S) (human)
DNA:SNP:promoter:-374T>A (human)
protein:decreased expression:serum (human)
protein:increased expression:renal cortex (mouse)		 RGD PMID:18420491 PMID:10553500 PMID:16969646 PMID:21870072 PMID:21738623 RGD:2325657, RGD:8695961, RGD:8695958, RGD:7244183, RGD:7243937 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Aif1 allograft inflammatory factor 1 onset ISO DNA:polymorphism:intron:rs2259571 (human) RGD PMID:9391121 PMID:18987644 RGD:2313043, RGD:2313199 NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044 		JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO RGD PMID:12706323 RGD:2311151 NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase IMP RGD PMID:17940120 RGD:5509611 NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764 		JBrowse link
G Apoa1 apolipoprotein A-I ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apoa2 apolipoprotein A-II ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:19171731 PMID:1579407 RGD:2313980, RGD:2313972 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Apoc3 apolipoprotein C-III susceptibility ISO DNA:polymorphisms: :multiple RGD PMID:1579407 PMID:21670290 PMID:16505251 RGD:2313972, RGD:7207205, RGD:2306765 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:urine (human) GAD
RGD		 PMID:15118671 PMID:22678621 RGD:1331525, RGD:6903197 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Apoh apolipoprotein H IDA RGD PMID:9472678 RGD:2313990 NCBI chr11:108,286,123...108,305,222
Ensembl chr11:108,234,180...108,305,222 		JBrowse link
G Apom apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr17:35,347,973...35,350,777
Ensembl chr17:35,347,973...35,351,026 		JBrowse link
G Avp arginine vasopressin ISO RGD PMID:13995944 PMID:5692127 RGD:2314661, RGD:632128 NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474 		JBrowse link
G B2m beta-2 microglobulin IAGP RGD PMID:11572996 PMID:15446308 RGD:2311238, RGD:2311235 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Bach2 BTB and CNC homology, basic leucine zipper transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 4:32,238,413...32,586,109
Ensembl chr 4:32,238,804...32,586,108 		JBrowse link
G Bank1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24342660 RGD:9684973 NCBI chr 3:135,759,124...136,031,902
Ensembl chr 3:135,759,124...136,031,827 		JBrowse link
G Bche butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO protein:decreased expression:plasma
protein:increased expression:serum:		 RGD PMID:21041817 PMID:9850345 RGD:7207232, RGD:7207419 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Bmal2 basic helix-loop-helix ARNT like 2 IAGP DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr 6:146,696,230...146,735,027
Ensembl chr 6:146,697,553...146,735,027 		JBrowse link
G Btc betacellulin, epidermal growth factor family member susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr 5:91,505,120...91,550,853
Ensembl chr 5:91,505,120...91,550,853 		JBrowse link
G C1qtnf6 C1q and tumor necrosis factor related protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr15:78,407,546...78,416,370
Ensembl chr15:78,407,546...78,415,616 		JBrowse link
G C3 complement component 3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Casp12 caspase 12 ISO protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23499715 PMID:15855338 RGD:2311451 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032 		JBrowse link
G Casp3 caspase 3 ISO protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Casp8 caspase 8 IEP RGD PMID:12753807 RGD:2311431 NCBI chr 1:58,834,398...58,886,662
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Casp9 caspase 9 ISO
IDA		 RGD PMID:17880769 PMID:14617576 RGD:2311245, RGD:2311322 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Cblb Casitas B-lineage lymphoma b susceptibility
no_association		 ISO DNA:nonsense mutation (rat)
DNA:missense mutations: :multiple (human)
DNA:SNP:exon:rs3772534 (human)
DNA:SNPs: :multiple (human)		 RGD PMID:12118252 PMID:18201552 PMID:15629882 PMID:14961073 PMID:17209142 RGD:625457, RGD:2314037, RGD:2314040, RGD:2314041, RGD:2314039 NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411 		JBrowse link
G Ccl11 chemokine (C-C motif) ligand 11 ISO protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781 		JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 onset ISO
IEP		 protein:increased expression:serum
mRNA:increased expression:pancreatic islet (mouse)		 RGD PMID:19092169 PMID:11317664 RGD:2306983, RGD:8549575 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 no_association ISO DNA:polymorphism
DNA:polymorphism: :p.V64I (human)		 RGD PMID:12770795 PMID:10400139 RGD:2313562, RGD:2313564 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 no_association ISO mRNA:increased expression:splenocyte (rat)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
protein:decreased expression:blood, mononuclear cell		 RGD PMID:15240727 PMID:23773920 PMID:12145160 RGD:4890459, RGD:8551818, RGD:2317571 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd14 CD14 antigen ISO
IMP		 protein:increased expression:monocyte RGD PMID:10831941 PMID:14614560 RGD:2314175, RGD:2314173 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851 		JBrowse link
G Cd28 CD28 antigen onset IMP
ISO		 protein:decreased expression:T cell
DNA:polymorphism:intron (human)		 RGD PMID:9410902 PMID:15504310 PMID:11685455 RGD:2307201, RGD:2307197, RGD:2307199 NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518 		JBrowse link
G Cd36 CD36 molecule IEP protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr 5:17,986,688...18,093,957
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd38 CD38 antigen disease_progression ISO
IAGP		 OMIM:222100 MouseDO
RGD		 PMID:16459468 PMID:12488956 PMID:16920929 RGD:2307230, RGD:2307231, RGD:2307229 NCBI chr 5:44,026,153...44,069,714
Ensembl chr 5:44,025,895...44,069,717 		JBrowse link
G Cd40 CD40 antigen ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand treatment ISO
IDA
IMP		 protein:increased expression:serum RGD PMID:16505242 PMID:26716812 PMID:12419284 PMID:16611325 PMID:15448088 RGD:2314212, RGD:11344963, RGD:8547798, RGD:5491182, RGD:2314220 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd69 CD69 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 6:129,244,287...129,252,332
Ensembl chr 6:129,244,288...129,252,399 		JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:19658094 RGD:5132624 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697 		JBrowse link
G Cd86 CD86 antigen onset ISO
IEP
IMP		 human gene in mouse model
protein:decreased expression:macrophage,dendritic cell,T cell
protein:decreased expression:dendritic cell
protein:decreased expression:dendritic cells
protein:increased expression:dendritic cell		 RGD PMID:17947667 PMID:10679081 PMID:16232222 PMID:15356107 PMID:18316361 More... RGD:4892258, RGD:2313927, RGD:2313911, RGD:2313917, RGD:2313906, RGD:2313920 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Cdk4 cyclin dependent kinase 4 IAGP OMIM:222100 MouseDO
RGD		 PMID:10319860 RGD:2314613 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1
protein:increased activity:serum		 ClinVar
RGD		 PMID:18414213 PMID:25741868 PMID:10580419 PMID:9536927 RGD:2313967, RGD:2313969 NCBI chr 2:28,445,831...28,453,415
Ensembl chr 2:28,445,807...28,453,415 		JBrowse link
G Cfb complement factor B ISO DNA:polymorphism
protein:increased expression:serum		 RGD PMID:19000152 PMID:3907907 RGD:2311335, RGD:2311338 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2, cardiac ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr 6:36,364,928...36,505,573
Ensembl chr 6:36,365,019...36,505,349 		JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO DNA:polymorphism:intron:rs725613 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs2903692A (human)		 CTD
RGD		 PMID:17632545 PMID:18946483 PMID:18946483 PMID:19221398 RGD:2313978, RGD:5491176 NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20012460 PMID:17603912 RGD:2314682 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD
RGD		 PMID:20012460 PMID:22864910 PMID:20012460 RGD:6906966, RGD:8547537 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNP:promoter:-1661A>G (human)
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human)		 RGD PMID:16671945 PMID:9259273 PMID:18443194 PMID:8817351 RGD:2301995, RGD:1300385, RGD:2301974, RGD:2301958 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Ctsb cathepsin B susceptibility IMP RGD PMID:19664906 RGD:2315524 NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372 		JBrowse link
G Ctsh cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142 		JBrowse link
G Ctsl cathepsin L susceptibility IMP RGD PMID:19664906 RGD:2315524 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704 		JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO
IMP		 protein:increased expression:serum RGD PMID:16339582 PMID:19046227 PMID:16148094 RGD:2311362, RGD:2311358, RGD:2311363 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl12 chemokine (C-X-C motif) ligand 12 onset
no_association		 ISO
IMP		 DNA:polymorphism:3' utr (human)
mRNA:increased expression:bone marrow		 RGD PMID:11334429 PMID:14679085 PMID:14522095 PMID:12383202 PMID:18793419 RGD:2306563, RGD:2306561, RGD:2306560, RGD:2306562, RGD:2301942 NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)
DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)		 RGD PMID:17223345 PMID:17606874 RGD:2307312, RGD:2307311 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 susceptibility ISO DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) RGD PMID:17607662 RGD:2315692 NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		JBrowse link
G Ddx39b DEAD box helicase 39b ISO RGD PMID:11756005 RGD:13702905 NCBI chr17:35,460,722...35,472,683
Ensembl chr17:35,460,722...35,472,683 		JBrowse link
G Dnmt3b DNA methyltransferase 3B ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO RGD PMID:26363782 RGD:11532657 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Dpp4 dipeptidylpeptidase 4 IMP RGD PMID:19073764 RGD:2313702 NCBI chr 2:62,160,417...62,242,635
Ensembl chr 2:62,160,417...62,242,575 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO RGD PMID:7485483 RGD:2298693 NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102 		JBrowse link
G E2f1 E2F transcription factor 1 IMP
IAGP		 E2f1/E2f2 double knockout
OMIM:222100		 MouseDO
RGD		 PMID:15146237 RGD:1300306 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		JBrowse link
G E2f2 E2F transcription factor 2 IMP E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 4:135,899,585...135,923,368
Ensembl chr 4:135,899,705...135,923,368 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr 6:70,821,468...70,882,225
Ensembl chr 6:70,821,499...70,882,229 		JBrowse link
G Ets1 E26 avian leukemia oncogene 1, 5' domain ISO DNA:polymorphism (human) RGD PMID:1982251 PMID:1686010 RGD:2313850, RGD:2313901 NCBI chr 9:32,547,501...32,669,116
Ensembl chr 9:32,547,517...32,669,116 		JBrowse link
G F7 coagulation factor VII ISO protein:increased activity, expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)
associated with Kidney Failure; protein:increased expression:plasma (human)		 RGD PMID:11297753 PMID:11146704 PMID:9686915 PMID:15860378 RGD:2312384, RGD:2312385, RGD:2312389, RGD:2312383 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G Fas Fas (TNF receptor superfamily member 6) IMP
ISO		 protein:increased expression:insulin-secreting cells RGD PMID:9254659 PMID:19120316 RGD:2315754, RGD:2315742 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) ISO
IAGP		 protein:increased expression:lymphocyte
OMIM:222100
mRNA:decreased expression:lymphocyte		 MouseDO
RGD		 PMID:19120316 PMID:17324464 PMID:16180659 RGD:2315742, RGD:2315748, RGD:2315751 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III IMP RGD PMID:17617565 RGD:5508453 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914 		JBrowse link
G Foxo1 forkhead box O1 IEP protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO associated with Autoimmune Diseases;DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Diabetes mellitus type 1		 ClinVar
RGD		 PMID:25741868 PMID:11137992 RGD:1598959 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Fuca1 fucosidase, alpha-L- 1, tissue ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 4:135,648,037...135,667,611
Ensembl chr 4:135,648,046...135,667,622 		JBrowse link
G G6pc2 glucose-6-phosphatase, catalytic, 2 IAGP OMIM:222100 MouseDO NCBI chr 2:69,041,417...69,058,337
Ensembl chr 2:69,041,417...69,058,185 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gad2 glutamic acid decarboxylase 2 onset
susceptibility		 IMP
IAGP
ISO
IDA		 OMIM:222100 MouseDO
RGD		 PMID:18005036 PMID:19741189 PMID:19188044 PMID:18005036 PMID:19085183 RGD:2313296, RGD:2313289, RGD:2313292, RGD:2313296, RGD:2313294 NCBI chr 2:22,512,262...22,583,889
Ensembl chr 2:22,512,217...22,583,886 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO mRNA, protein:increased expression:celiac ganglion
protein:increased expression:plasma		 RGD PMID:16487586 PMID:16060906 RGD:1624331, RGD:2313736 NCBI chr19:3,459,915...3,464,544
Ensembl chr19:3,459,915...3,464,544 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 More... NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 More... NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Gc vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
G Gh growth hormone ISO protein:increased expression:serum RGD PMID:3097114 PMID:7298798 PMID:2888037 RGD:2315684, RGD:2315674, RGD:2315685 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Ghr growth hormone receptor IEP
ISO		 mRNA, protein:decreased expression:kidney, liver RGD PMID:11469393 PMID:12054124 RGD:2307367, RGD:2307366 NCBI chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 ISO DNA:frameshift deletion (rat) RGD PMID:12097339 RGD:619544 NCBI chr 6:48,723,131...48,731,134
Ensembl chr 6:48,723,131...48,731,144 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr19:28,236,251...28,657,684
Ensembl chr19:28,236,251...28,657,477 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 onset ISO RGD PMID:16390810 RGD:2306629 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO mRNA:decreased expression:islets of Langerhans (rat) RGD PMID:23111281 RGD:7794858 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha onset
susceptibility		 ISO DNA:polymorphisms: :multiple
CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)		 CTD
RGD		 PMID:26168013 PMID:12021143 PMID:17728790 PMID:16731854 PMID:18769865 RGD:2301817, RGD:5147626, RGD:2301812, RGD:2301811 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility
onset		 ISO DNA:polymorphisms, haplotypes:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
associated with Sclerosing Lymphocytic Lobulitis
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)		 CTD
RGD		 PMID:26168013 PMID:20858521 PMID:28247576 PMID:10562813 PMID:17728790 More... RGD:5147569, RGD:14865008, RGD:11041764, RGD:5147626, RGD:5147575 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Ea histocompatibility 2, class II antigen E alpha IMP RGD PMID:11812739 RGD:5490164 NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility
onset		 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)		 CTD
RGD		 PMID:26168013 PMID:12270547 PMID:20510319 PMID:20858521 RGD:2314698, RGD:5147575, RGD:5147569 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-Pa histocompatibility 2, P region alpha locus ISO RGD PMID:7576003 RGD:6480651 NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 OMIM
ClinVar		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
G Hp haptoglobin treatment ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16506275 PMID:20975081 PMID:20853098 RGD:11041804, RGD:11041868 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16616286 PMID:16616286 PMID:11916625 RGD:2308923, RGD:2308924 NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620 		JBrowse link
G Iapp islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417 PMID:19190104 RGD:2313357, RGD:2313356 NCBI chr 6:142,244,151...142,249,546
Ensembl chr 6:142,244,149...142,249,687 		JBrowse link
G Ica1 islet cell autoantigen 1 onset IMP
IEP
ISO		 mRNA, protein:decreased expression:thymus gland RGD PMID:11751995 PMID:14679103 PMID:8647206 RGD:2311487, RGD:2311486, RGD:2311488 NCBI chr 6:8,630,527...8,778,531
Ensembl chr 6:8,630,527...8,778,488 		JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO protein:increased expression:plasma RGD PMID:16978373 PMID:19373518 RGD:1625758, RGD:2313468 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Ifng interferon gamma IAGP
ISO		 OMIM:222100
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:21340626 PMID:18644830 PMID:8977415 RGD:2311493, RGD:10755748 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ifngr2 interferon gamma receptor 2 IAGP OMIM:222100 MouseDO NCBI chr16:91,343,947...91,360,895
Ensembl chr16:91,343,960...91,362,511 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:24632065 PMID:19156625 PMID:15356074 PMID:16887362 RGD:2306688, RGD:2313769, RGD:2313765 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO RGD PMID:16887362 PMID:15356074 RGD:2313765, RGD:2313769 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Ighm immunoglobulin heavy constant mu IAGP OMIM:222100 MouseDO NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19430480 PMID:17997340 RGD:2308949 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919 PMID:17670937 RGD:2313577, RGD:2313574 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852 		JBrowse link
G Il1a interleukin 1 alpha IEP
ISO		 mRNA:increased expression:pancreatic islet, leukocyte
protein:increased expression:small intestine mucosa		 RGD PMID:8612552 PMID:12941768 PMID:17953531 PMID:2405400 RGD:2311067, RGD:2311065, RGD:2311064, RGD:2311075 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:peripheral blood, leukocyte (human) RGD PMID:21848584 PMID:1797022 RGD:7175335, RGD:7401233 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1r1 interleukin 1 receptor, type I ISO
IAGP
IEP		 DNA:SNP (human)
OMIM:222100
DNA:polymorphism
protein:decreased expression:pancreatic islet		 MouseDO
RGD		 PMID:11197691 PMID:8911996 PMID:7835294 RGD:2311106, RGD:6892703, RGD:2311068 NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human)
mouse model treated with human protein		 RGD PMID:9112337 PMID:9158104 RGD:6907403, RGD:6907407 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il2 interleukin 2 onset IMP
ISO		 RGD PMID:17670937 PMID:3514237 RGD:2313574, RGD:10047089 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:130,834,722...130,839,033
Ensembl chr 1:130,834,722...130,839,188 		JBrowse link
G Il21 interleukin 21 susceptibility
treatment		 IMP associated with Arenaviridae infectious disease RGD PMID:27300756 PMID:28711285 RGD:127285370, RGD:127285590 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Il21r interleukin 21 receptor IMP RGD PMID:19208913 RGD:6892930 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Il27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il2ra interleukin 2 receptor, alpha chain onset ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17676041 PMID:19119414 PMID:19701192 PMID:30224649 PMID:19106270 More... RGD:2311528, RGD:2311527 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004 		JBrowse link
G Il2rb interleukin 2 receptor, beta chain ameliorates IMP RGD PMID:29367461 RGD:42733039 NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471 		JBrowse link
G Il4 interleukin 4 IAGP OMIM:222100 MouseDO NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il6 interleukin 6 susceptibility ISO
IAGP		 DNA:polymorphism:promoter:-174G>C (human)
ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to
protein:increased expression:serum:
protein:increased expression:extracellular space (mouse)
protein:increased expression:extracellular space (human)		 OMIM
ClinVar
RGD		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... RGD:2307275, RGD:7829749, RGD:2307279, RGD:2307193 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Ins1 insulin I ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 More... NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914 		JBrowse link
G Ins2 insulin II treatment
susceptibility		 ISO
IMP
EXP		 ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
human gene in a mouse model
human protein in a mouse model
associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter (human)
associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
DNA:SNP:promoter:-23A>T (rs689) (human)
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic		 ClinVar
CTD
RGD		 PMID:11921414 PMID:17151334 PMID:17855560 PMID:18162506 PMID:18171712 More... RGD:2311114, RGD:150340616, RGD:150340615, RGD:150340614, RGD:150340612, RGD:150340611, RGD:150340608, RGD:150340607, RGD:150340606, RGD:150340605 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 IAGP OMIM:222100 MouseDO NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035 		JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G Itga2 integrin alpha 2 IAGP protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr13:114,969,617...115,068,636
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga4 integrin alpha 4 treatment IMP RGD PMID:7528925 RGD:13593534 NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467 		JBrowse link
G Itpr3 inositol 1,4,5-triphosphate receptor 3 susceptibility ISO OMIM NCBI chr17:27,275,976...27,341,197
Ensembl chr17:27,276,278...27,341,197 		JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus		 CTD
ClinVar		 PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 More... NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188 		JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 disease_progression IMP associated with lymphocytic choriomeningitis RGD PMID:22944096 RGD:38676492 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
G Lgals3 lectin, galactose binding, soluble 3 ISO RGD PMID:16600178 RGD:9685204 NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617 		JBrowse link
G Lipc lipase, hepatic ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508 		JBrowse link
G Lta lymphotoxin A onset
treatment
susceptibility		 ISO protein:decreased expression:mononuclear cell
DNA:polymorphism: :252A>G (human)
DNA:SNP (human)
DNA:polymorphism: :249A>G (human)		 RGD PMID:9342542 PMID:8242903 PMID:12622777 PMID:11141334 PMID:19120272 More... RGD:2313264, RGD:8548842, RGD:2313262, RGD:2313263, RGD:2313253, RGD:2313257 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 IMP
IEP		 RGD PMID:9313747 PMID:17827401 RGD:2311545, RGD:2311544 NCBI chr10:79,500,393...79,504,376
Ensembl chr10:79,500,393...79,504,371 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IAGP OMIM:222100 MouseDO NCBI chr18:70,701,298...70,761,769
Ensembl chr18:70,701,260...70,759,202 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mir146 microRNA 146 susceptibility ISO DNA:SNP: :rs2910164 (human) RGD PMID:28101643 RGD:24922224 NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288 		JBrowse link
G Mir155 microRNA 155 susceptibility ISO DNA:SNP: :rs767649 (human) RGD PMID:28101643 RGD:24922224 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial susceptibility IAGP DNA:transversion: :m.7778G>T (mouse) RGD PMID:19759059 RGD:5490297 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225 		JBrowse link
G Neurod1 neurogenic differentiation 1 no_association ISO DNA:polymorphism: :p.A45T (human)
DNA:polymorphism:exon		 RGD PMID:15047635 PMID:16357810 PMID:16909454 RGD:2313487, RGD:2313483, RGD:2313481 NCBI chr 2:79,282,981...79,286,980
Ensembl chr 2:79,282,865...79,287,095 		JBrowse link
G Nog noggin IEP mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible IAGP OMIM:222100 MouseDO
RGD		 PMID:19535454 RGD:2313214 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Notch4 notch 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
G Pax4 paired box 4 susceptibility ISO DNA:polymorphism: :p.R133W (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15509590 PMID:15834548 RGD:2311634, RGD:2311633 NCBI chr 6:28,442,333...28,449,339
Ensembl chr 6:28,442,333...28,449,352 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IDA protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr13:75,237,407...75,282,980
Ensembl chr13:75,237,945...75,282,980 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 IMP
IAGP		 OMIM:222100 MouseDO
RGD		 PMID:17383157 RGD:2311310 NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658 		JBrowse link
G Plat plasminogen activator, tissue ISO RGD PMID:14652638 RGD:2311676 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IEP RGD PMID:19472040 RGD:2313779 NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IEP mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Ppbp pro-platelet basic protein ISO RGD PMID:14730686 RGD:1625598 NCBI chr 5:90,916,377...90,917,922
Ensembl chr 5:90,916,377...90,917,922 		JBrowse link
G Prf1 perforin 1 (pore forming protein) IAGP OMIM:222100 MouseDO NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
G Prrc2a proline-rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:15842729 PMID:10987645 RGD:2306963, RGD:2306964 NCBI chr17:35,368,052...35,384,877
Ensembl chr17:35,368,052...35,383,873 		JBrowse link
G Prss1 protease, serine 1 (trypsin 1) ISO protein:increased expression:serum RGD PMID:3833185 RGD:1599966 NCBI chr 6:41,435,864...41,440,720
Ensembl chr 6:41,435,866...41,440,720 		JBrowse link
G Psmb8 proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) ISO GAD PMID:15118671 RGD:1331525 NCBI chr17:34,417,169...34,420,428
Ensembl chr17:34,416,695...34,420,428 		JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) IEP RGD PMID:11717249 RGD:6483441 NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738 		JBrowse link
G Ptf1a pancreas specific transcription factor, 1a ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:18591390 PMID:28492532 NCBI chr 2:19,450,474...19,452,312
Ensembl chr 2:19,450,474...19,452,312 		JBrowse link
G Pth parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) susceptibility
onset		 ISO
IMP		 DNA:snp: cds: 1858C>T
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.R620W (rs2476601) (human)
DNA:missense mutation:cds:p.A629T (rat)		 OMIM
CTD
RGD		 PMID:21190368 PMID:30224649 PMID:15004560 PMID:20176734 PMID:25505293 More... RGD:6484524, RGD:11533996, RGD:9835029, RGD:11532754, RGD:6484692 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO RGD PMID:19741189 RGD:2313289 NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146 		JBrowse link
G Ptprn2 protein tyrosine phosphatase receptor type N polypeptide 2 IDA
IAGP
ISO		 OMIM:222100 MouseDO
RGD		 PMID:12419281 PMID:18193190 RGD:2311684, RGD:2311682 NCBI chr12:116,449,316...117,241,787
Ensembl chr12:116,449,340...117,240,469 		JBrowse link
G Ran RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr 5:129,097,220...129,101,386
Ensembl chr 5:129,097,133...129,101,387 		JBrowse link
G Reg1 regenerating islet-derived 1 ISO human protein in a mouse model RGD PMID:9564847 RGD:9850125 NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650 		JBrowse link
G Retn resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110 		JBrowse link
G Sele selectin, endothelial cell ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246 		JBrowse link
G Sell selectin, lymphocyte IAGP OMIM:222100 MouseDO NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750 		JBrowse link
G Senp1 SUMO1/sentrin specific peptidase 1 IAGP OMIM:222100 MouseDO NCBI chr15:97,936,625...97,991,625
Ensembl chr15:97,936,625...97,991,625 		JBrowse link
G Serpina7 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:137,979,998...137,985,985
Ensembl chr  X:137,980,006...137,985,985 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon: (rs3184504) (human)
DNA:SNP: : (rs3184504) (human)		 CTD
RGD		 PMID:30224649 PMID:21829393 PMID:21873553 RGD:153297780, RGD:6484692 NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO
IMP		 DNA:SNP:intron:rs3731865 (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat:promoter (human)
DNA:polymorphism: :274C>T (human)		 CTD
RGD		 PMID:16597321 PMID:21524304 PMID:15877293 PMID:16550170 PMID:19768110 RGD:5684926, RGD:5684955, RGD:5684950, RGD:5684932 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Slc18a2 solute carrier family 18 (vesicular monoamine), member 2 ISO protein:decreased expression:pancreas (human) RGD PMID:19223416 RGD:5131199 NCBI chr19:59,249,310...59,284,444
Ensembl chr19:59,249,328...59,284,444 		JBrowse link
G Slc29a3 solute carrier family 29 (nucleoside transporters), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr10:60,547,851...60,588,624
Ensembl chr10:60,547,851...60,588,573 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 IAGP OMIM:222100 MouseDO NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO
IAGP		 DNA:insertion:intron (human)
DNA:mutation:promoter (mouse)
DNA:polymorphisms (human)		 RGD PMID:9458110 PMID:9300732 PMID:9129974 RGD:2312369, RGD:2312370, RGD:2312371 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199 		JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ISO RGD PMID:1300236 PMID:17192492 RGD:2312373, RGD:2312368 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295 		JBrowse link
G Tbp TATA box binding protein susceptibility
no_association		 ISO DNA:repeat:cds:g.172(CAG/CAA)38 (human) RGD PMID:15381080 PMID:15850778 RGD:5684348, RGD:5684349 NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641 		JBrowse link
G Tcra T cell receptor alpha chain IAGP OMIM:222100 MouseDO NCBI chr14:52,665,424...54,461,655 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 More... NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
G Thbd thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:20,736,405...20,740,976
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Tlr2 toll-like receptor 2 no_association ISO
IAGP		 DNA:SNP: :1350T>C (human)
DNA:SNP: :rs3804100 (human)
protein:increased expression:monocyte		 RGD PMID:17130564 PMID:17707128 PMID:15699513 PMID:19148143 PMID:18029454 RGD:2312687, RGD:2312684, RGD:2312686, RGD:2312679, RGD:2312683 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr3 toll-like receptor 3 ISO DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) RGD PMID:16029432 RGD:5129476 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		JBrowse link
G Tlr4 toll-like receptor 4 IEP
ISO		 protein:increased expression:monocyte RGD PMID:16728431 PMID:18029454 RGD:2312492, RGD:2312683 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23640034 PMID:19120272 RGD:2313253 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfsf10 tumor necrosis factor (ligand) superfamily, member 10 IMP
ISO		 RGD PMID:12882912 PMID:18057577 RGD:2312743, RGD:2312740 NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576 		JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 IAGP OMIM:222100 MouseDO NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981 		JBrowse link
G Trf transferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643 		JBrowse link
G Try10 trypsin 10 ISO protein:increased expression:serum RGD PMID:3833185 RGD:1599966 NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Virus-induced diabetes
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:26288847 PMID:30224649 NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539 		JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) IEP RGD PMID:18678617 RGD:2313502 NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO mRNA, protein:increased expression:liver RGD PMID:9841869 RGD:1600450 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719 		JBrowse link
G Vav1 vav 1 oncogene ISO mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Kidney Failure, Chronic;protein:increased expression:artery: RGD PMID:22210567 RGD:7241034 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Vip vasoactive intestinal polypeptide IDA RGD PMID:20309012 RGD:5685388 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:10729383 RGD:13673887 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein no_association IMP
ISO		 DNA:missense mutation: :p.R456H (human)
DNA:mutations:exons, 5' utr, 3' utr:multiple		 RGD PMID:15056606 PMID:10679252 PMID:15008830 RGD:8694393, RGD:8694402, RGD:8694396 NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) RGD PMID:16759312 RGD:2313136 NCBI chr 7:116,980,214...117,266,853
Ensembl chr 7:116,980,214...117,272,803 		JBrowse link
G Yy1 YY1 transcription factor treatment ISO DNA:SNPs:intron RGD PMID:15234341 PMID:15619288 RGD:9588271, RGD:9588274 NCBI chr12:108,758,841...108,786,074
Ensembl chr12:108,758,899...108,786,074 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant OMIM
ClinVar		 PMID:10521293 PMID:10679252 PMID:11244483 PMID:11295831 PMID:11709537 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A kinase (PRKA) anchor protein 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:6,933,754...6,944,848
Ensembl chr  X:6,933,758...6,944,848 		JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,663,946...20,726,760
Ensembl chr  X:20,664,053...20,726,758 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:6,226,108...6,232,778
Ensembl chr  X:6,226,161...6,232,775 		JBrowse link
G Btbd35f6 BTB domain containing 35, family member 6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:33,392,137...33,394,056
Ensembl chr  X:33,392,507...33,394,003 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,597,953...7,607,563
Ensembl chr  X:7,597,953...7,617,144 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 NCBI chr  X:7,460,048...7,471,659
Ensembl chr  X:7,460,048...7,471,756 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:6,845,890...6,907,894
Ensembl chr  X:6,845,891...6,907,858 		JBrowse link
G Cdk16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,554,210...20,566,119
Ensembl chr  X:20,554,193...20,566,119 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:6,691,103...6,814,602
Ensembl chr  X:6,690,410...6,814,602 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,051,568...8,059,751
Ensembl chr  X:8,051,568...8,059,751 		JBrowse link
G Elk1 ELK1, member of ETS oncogene family ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,799,634...20,816,847
Ensembl chr  X:20,799,634...20,816,847 		JBrowse link
G Eras ES cell-expressed Ras ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,790,515...7,794,846
Ensembl chr  X:7,790,515...7,794,846 		JBrowse link
G Foxp3 forkhead box P3 ISO
IAGP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism
OMIM:304790		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 More... RGD:1598959 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Ftsj1 FtsJ RNA methyltransferase homolog 1 (E. coli) ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,104,907...8,118,609
Ensembl chr  X:8,104,907...8,118,645 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,870,440...7,884,731
Ensembl chr  X:7,870,439...7,884,731 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,563,373...7,576,500
Ensembl chr  X:7,563,370...7,576,501 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,656,009...7,686,806
Ensembl chr  X:7,656,004...7,686,806 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,291,611...20,386,178
Ensembl chr  X:20,291,927...20,386,178 		JBrowse link
G Kcnd1 potassium voltage-gated channel, Shal-related family, member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,686,907...7,704,517
Ensembl chr  X:7,688,528...7,704,519 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,539,405...7,547,490
Ensembl chr  X:7,539,403...7,547,490 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,103,922...7,104,013
Ensembl chr  X:7,103,922...7,104,013 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,114,641...7,114,736
Ensembl chr  X:7,114,641...7,114,736 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,481,565...20,483,858
Ensembl chr  X:20,481,565...20,483,858 		JBrowse link
G Otud5 OTU domain containing 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,705,852...7,742,865
Ensembl chr  X:7,707,603...7,742,865 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,786,061...7,790,649
Ensembl chr  X:7,786,061...7,790,649 		JBrowse link
G Pim2 proviral integration site 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,744,545...7,749,671
Ensembl chr  X:7,744,501...7,749,671 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,534,180...7,537,629
Ensembl chr  X:7,534,180...7,537,629 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,424,815...7,440,541
Ensembl chr  X:7,423,535...7,440,522 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,760,758...7,765,508
Ensembl chr  X:7,760,758...7,765,508 		JBrowse link
G Praf2 PRA1 domain family 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,594,810...7,597,302
Ensembl chr  X:7,594,678...7,597,303 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,523,584...7,534,425
Ensembl chr  X:7,523,499...7,534,425 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,483,596...20,517,128
Ensembl chr  X:20,483,742...20,517,140 		JBrowse link
G Rbm3 RNA binding motif (RNP1, RRM) protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,005,214...8,012,119
Ensembl chr  X:8,005,214...8,012,119 		JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,413,980...20,428,328
Ensembl chr  X:20,416,026...20,428,328 		JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,230,720...20,271,892
Ensembl chr  X:20,230,720...20,271,892 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:6,312,012...6,549,508
Ensembl chr  X:6,311,908...6,549,502 		JBrowse link
G Slc35a2 solute carrier family 35 (UDP-galactose transporter), member A2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,750,189...7,760,731
Ensembl chr  X:7,750,267...7,760,731 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,137,620...8,146,418
Ensembl chr  X:8,137,372...8,146,418 		JBrowse link
G Slc9a7 solute carrier family 9 (sodium/hydrogen exchanger), member 7 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:19,965,090...20,158,274
Ensembl chr  X:19,971,993...20,158,046 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,934,669...20,944,197
Ensembl chr  X:20,934,645...20,944,202 		JBrowse link
G Ssxa1 SSX member A1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,984,653...20,988,327
Ensembl chr  X:20,982,059...20,987,431 		JBrowse link
G Ssxb2 SSX member B2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,320,582...8,327,965
Ensembl chr  X:8,320,584...8,327,965 		JBrowse link
G Ssxb5 SSX member B5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,669,930...8,676,348
Ensembl chr  X:8,669,930...8,675,625 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999 		JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,726,750...20,787,157
Ensembl chr  X:20,726,750...20,787,243 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,504,819...7,519,495
Ensembl chr  X:7,504,710...7,519,495 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:8,020,709...8,042,420
Ensembl chr  X:8,020,711...8,042,420 		JBrowse link
G Tfe3 transcription factor E3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,628,769...7,641,441
Ensembl chr  X:7,628,799...7,641,441 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,765,575...7,773,891
Ensembl chr  X:7,765,596...7,776,168 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,736,405...20,740,976
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,524,541...20,549,418
Ensembl chr  X:20,524,565...20,549,418 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,570,148...20,586,778
Ensembl chr  X:20,570,145...20,586,778 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X chromosome ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,238,830...7,242,069
Ensembl chr  X:7,237,513...7,242,069 		JBrowse link
G Uxt ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,818,162...20,828,259
Ensembl chr  X:20,807,961...20,828,256 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,989,540...7,999,134
Ensembl chr  X:7,989,540...7,999,131 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:7,588,193...7,594,440
Ensembl chr  X:7,580,572...7,594,445 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr 5:138,439,721...138,459,162
Ensembl chr 5:138,439,730...138,458,956 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:20,892,423...20,928,357
Ensembl chr  X:20,895,178...20,928,555 		JBrowse link
latent autoimmune diabetes in adults term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNP: :49A>G (human) RGD PMID:12021137 RGD:2301997 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr10:7,781,412...7,832,039
Ensembl chr10:7,781,417...7,831,994 		JBrowse link
Mauriac Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase, gamma 2 (testis) ISO ClinVar Annotator: match by term: Mauriac syndrome ClinVar PMID:27207549 PMID:28492532 NCBI chr 7:127,169,252...127,182,479
Ensembl chr 7:127,172,512...127,182,479 		JBrowse link
type 1 diabetes mellitus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2ra interleukin 2 receptor, alpha chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Type 1 diabetes mellitus 10		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004 		JBrowse link
type 1 diabetes mellitus 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 OMIM
ClinVar		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
type 1 diabetes mellitus 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 ClinVar PMID:25741868 NCBI chr15:77,644,785...77,726,375
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
type 1 diabetes mellitus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 IAGP OMIM:125852 MouseDO NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Ins1 insulin I ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914 		JBrowse link
G Ins2 insulin II ISO
IAGP		 ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
DNA:missense mutation:cds:p.C96Y (mouse)		 OMIM
ClinVar
RGD		 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... RGD:14401710 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G 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 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
type 1 diabetes mellitus 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 20 OMIM
ClinVar		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
type 1 diabetes mellitus 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 chemokine (C-C motif) receptor 5 susceptibility ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 22 ClinVar
OMIM		 PMID:25741868 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr10:7,781,412...7,832,039
Ensembl chr10:7,781,417...7,831,994 		JBrowse link
type 1 diabetes mellitus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod1 neurogenic differentiation 1 IAGP OMIM:600321 MouseDO NCBI chr 2:79,282,981...79,286,980
Ensembl chr 2:79,282,865...79,287,095 		JBrowse link
Wolcott-Rallison syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO
IAGP		 DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
OMIM:226980		 ClinVar
MouseDO
OMIM
RGD		 PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID:16813601 More... RGD:734923 NCBI chr 6:70,821,468...70,882,225
Ensembl chr 6:70,821,499...70,882,229 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... RGD:1599813 NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein IAGP
ISO		 OMIM:222300
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1		 MouseDO
ClinVar
OMIM		 PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO
IMP		 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045603, RGD:10045601 NCBI chr 3:135,112,173...135,129,194
Ensembl chr 3:135,112,173...135,129,686 		JBrowse link
G Slc9b1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 3:135,053,754...135,103,588
Ensembl chr 3:135,053,790...135,103,588 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 15557
      endocrine system disease 6215
        diabetes mellitus 1402
          type 1 diabetes mellitus 300
            Bangstad Syndrome 0
            Mauriac Syndrome 1
            Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
            Wolcott-Rallison syndrome 1
            Wolfram syndrome + 4
            fulminant type 1 diabetes 0
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 66
            latent autoimmune diabetes in adults 2
            type 1 diabetes mellitus 10 1
            type 1 diabetes mellitus 11 0
            type 1 diabetes mellitus 12 1
            type 1 diabetes mellitus 13 0
            type 1 diabetes mellitus 15 0
            type 1 diabetes mellitus 17 1
            type 1 diabetes mellitus 18 0
            type 1 diabetes mellitus 19 0
            type 1 diabetes mellitus 2 4
            type 1 diabetes mellitus 20 1
            type 1 diabetes mellitus 21 0
            type 1 diabetes mellitus 22 1
            type 1 diabetes mellitus 23 0
            type 1 diabetes mellitus 24 0
            type 1 diabetes mellitus 3 0
            type 1 diabetes mellitus 4 0
            type 1 diabetes mellitus 5 1
            type 1 diabetes mellitus 6 0
            type 1 diabetes mellitus 7 1
            type 1 diabetes mellitus 8 0
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 17827
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17690
        genetic disease 17658
          inherited metabolic disorder 5626
            carbohydrate metabolic disorder 2757
              glucose metabolism disease 1545
                diabetes mellitus 1402
                  type 1 diabetes mellitus 300
                    Bangstad Syndrome 0
                    Mauriac Syndrome 1
                    Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
                    Wolcott-Rallison syndrome 1
                    Wolfram syndrome + 4
                    fulminant type 1 diabetes 0
                    immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 66
                    latent autoimmune diabetes in adults 2
                    type 1 diabetes mellitus 10 1
                    type 1 diabetes mellitus 11 0
                    type 1 diabetes mellitus 12 1
                    type 1 diabetes mellitus 13 0
                    type 1 diabetes mellitus 15 0
                    type 1 diabetes mellitus 17 1
                    type 1 diabetes mellitus 18 0
                    type 1 diabetes mellitus 19 0
                    type 1 diabetes mellitus 2 4
                    type 1 diabetes mellitus 20 1
                    type 1 diabetes mellitus 21 0
                    type 1 diabetes mellitus 22 1
                    type 1 diabetes mellitus 23 0
                    type 1 diabetes mellitus 24 0
                    type 1 diabetes mellitus 3 0
                    type 1 diabetes mellitus 4 0
                    type 1 diabetes mellitus 5 1
                    type 1 diabetes mellitus 6 0
                    type 1 diabetes mellitus 7 1
                    type 1 diabetes mellitus 8 0
paths to the root