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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;   neonatal insulin-dependent diabetes mellitus;   virus-induced diabetes
 related_synonym: Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to
 primary_id: MESH:D003922
 alt_id: OMIM:222100;   OMIM:300136
 xref: GARD:10268;   NCI:C2986
For additional species annotation, visit the Alliance of Genome Resources.

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 Abcc8 ATP binding cassette subfamily C member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18025464 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287 		JBrowse link
G Ace angiotensin I converting enzyme disease progression ISO protein:increased activity:serum (human)
DNA:deletion:intron:IVS16+1464-1751del (human)		 RGD PMID:1336356, PMID:9025006 RGD:7829770, RGD:7829799 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:2658981 RGD:2312438 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753 		JBrowse link
G Acp1 acid phosphatase 1 onset ISO RGD PMID:15586390, PMID:11912546 RGD:2313182, RGD:2313186 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488 		JBrowse link
G Adrb1 adrenoceptor beta 1 IEP RGD PMID:21491159 RGD:6893642 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO 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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Aif1 allograft inflammatory factor 1 onset IDA
ISO		 DNA:polymorphism:intron:rs2259571 (human) RGD PMID:9391121, PMID:18987644 RGD:2313043, RGD:2313199 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO RGD PMID:12706323 RGD:2311151 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875 		JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:19171731, PMID:1579407 RGD:2313980, RGD:2313972 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997 		JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO
IMP		 DNA:polymorphisms: :multiple RGD PMID:1579407, PMID:21670290, PMID:16505251 RGD:2313972, RGD:7207205, RGD:2306765 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498 		JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:urine (human) GAD
RGD		 PMID:15118671, PMID:22678621 RGD:1331525, RGD:6903197 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938 		JBrowse link
G Apom apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073 		JBrowse link
G Arntl2 aryl hydrocarbon receptor nuclear translocator-like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr 4:181,103,774...181,158,415
Ensembl chr 4:181,103,774...181,214,994 		JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:11572996, PMID:15446308 RGD:2311238, RGD:2311235 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309 		JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166 		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 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250 		JBrowse link
G Bche butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395 		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 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747 		JBrowse link
G Btc betacellulin susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484 		JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 7:119,746,150...119,752,727
Ensembl chr 7:119,746,118...119,753,290 		JBrowse link
G C3 complement C3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G Casp12 caspase 12 IEP
ISO		 protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism		 CTD PMID:23499715, PMID:15855338 RGD:2311451 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160 		JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204 		JBrowse link
G Casp8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106 		JBrowse link
G Casp9 caspase 9 ISO RGD PMID:17880769, PMID:14617576 RGD:2311245, RGD:2311322 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058 		JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722 		JBrowse link
G Cblb Cbl proto-oncogene B no_association
susceptibility		 ISO
IDA
IAGP		 DNA:SNP:exon:rs3772534 (human)
DNA:nonsense mutation (rat)
DNA:missense mutations: :multiple (human)
DNA:SNPs: :multiple (human)		 RGD PMID:17209142, PMID:12118252, PMID:12118252, PMID:18201552, PMID:15629882, PMID:14961073 RGD:2314039, RGD:625457, RGD:625457, RGD:2314037, RGD:2314040, RGD:2314041 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 onset ISO protein:increased expression:serum
mRNA:increased expression:pancreatic islet (mouse)		 RGD PMID:19092169, PMID:11317664 RGD:2306983, RGD:8549575 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 no_association ISO DNA:polymorphism
DNA:polymorphism: :p.V64I (human)		 RGD PMID:12770795, PMID:10400139 RGD:2313562, RGD:2313564
G Ccr5 C-C motif chemokine receptor 5 no_association ISO
IEP		 protein:decreased expression:blood, mononuclear cell
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
mRNA:increased expression:splenocyte (rat)		 RGD PMID:12145160, PMID:23773920, PMID:15240727 RGD:2317571, RGD:8551818, RGD:4890459 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614 		JBrowse link
G Cd14 CD14 molecule ISO protein:increased expression:monocyte RGD PMID:14614560, PMID:10831941 RGD:2314173, RGD:2314175 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153 		JBrowse link
G Cd28 Cd28 molecule onset ISO DNA:polymorphism:intron (human)
protein:decreased expression:T cell		 RGD PMID:11685455, PMID:15504310, PMID:9410902 RGD:2307199, RGD:2307197, RGD:2307201 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749 		JBrowse link
G Cd38 CD38 molecule disease_progression ISO
ISS		 OMIM:222100 MouseDO PMID:16459468, PMID:12488956, PMID:16920929 RGD:2307230, RGD:2307231, RGD:2307229 NCBI chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704 		JBrowse link
G Cd40lg CD40 ligand treatment ISO
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562 		JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 4:163,041,147...163,049,065
Ensembl chr 4:163,041,141...163,049,084 		JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:19658094 RGD:5132624 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353 		JBrowse link
G Cd86 CD86 molecule onset ISO human gene in mouse model
protein:increased expression:dendritic cell
protein:decreased expression:dendritic cells
protein:decreased expression:macrophage,dendritic cell,T cell		 RGD PMID:17947667, PMID:12742378, PMID:18316361, PMID:10679081, PMID:15356107, PMID:16232222 RGD:4892258, RGD:2313920, RGD:2313906, RGD:2313927, RGD:2313917, RGD:2313911 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO
ISS		 OMIM:222100 MouseDO PMID:10319860 RGD:2314613 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1
protein:increased activity:serum		 ClinVar PMID:18414213, PMID:25741868, PMID:10580419, PMID:9536927 RGD:2313967, RGD:2313969 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:serum
DNA:polymorphism		 RGD PMID:3907907, PMID:19000152 RGD:2311338, RGD:2311335 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs725613 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs2903692A (human)		 CTD PMID:17632545, PMID:18946483, PMID:18946483, PMID:19221398 RGD:2313978, RGD:5491176 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20012460, PMID:17603912 RGD:2314682 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD PMID:20012460, PMID:22864910, PMID:20012460 RGD:6906966, RGD:8547537 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713 		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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065 		JBrowse link
G Ctsb cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612 		JBrowse link
G Ctsh cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287 		JBrowse link
G Ctsl cathepsin L susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO
IMP		 protein:increased expression:serum RGD PMID:16148094, PMID:19046227, PMID:16339582 RGD:2311363, RGD:2311358, RGD:2311362 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 onset
no_association		 ISO DNA:polymorphism:3' utr (human)
mRNA:increased expression:bone marrow		 RGD PMID:11334429, PMID:14522095, PMID:14679085, PMID:12383202, PMID:18793419 RGD:2306563, RGD:2306560, RGD:2306561, RGD:2306562, RGD:2301942 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891 		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 chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542 		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 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO RGD PMID:11756005 RGD:13702905 NCBI chr20:4,806,103...4,818,600
Ensembl chr20:4,806,108...4,818,568 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786 		JBrowse link
G Dock8 dedicator of cytokinesis 8 IAGP RGD PMID:26363782 RGD:11532657 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465 		JBrowse link
G Dock8m1Ztm dedicator of cytokinesis 8;mutant 1, Ztm IAGP RGD PMID:26363782 RGD:11532657
G Dpp4 dipeptidylpeptidase 4 ISO RGD PMID:19073764 RGD:2313702 NCBI chr 3:48,291,055...48,372,672
Ensembl chr 3:48,291,055...48,372,672 		JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:7485483 RGD:2298693 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418 		JBrowse link
G E2f1 E2F transcription factor 1 ISO
ISS		 E2f1/E2f2 double knockout
OMIM:222100		 MouseDO PMID:15146237 RGD:1300306 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721 		JBrowse link
G E2f2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 5:154,516,611...154,540,228
Ensembl chr 5:154,522,119...154,540,265 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Egfr epidermal growth factor receptor IEP protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO DNA:polymorphism (human) RGD PMID:1982251, PMID:1686010 RGD:2313850, RGD:2313901 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625 		JBrowse link
G F7 coagulation factor VII ISO protein:increased activity, expression:plasma (human)
associated with Kidney Failure; protein:increased expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)		 RGD PMID:11297753, PMID:15860378, PMID:9686915, PMID:11146704 RGD:2312384, RGD:2312383, RGD:2312389, RGD:2312385 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:insulin-secreting cells RGD PMID:9254659, PMID:19120316 RGD:2315754, RGD:2315742 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Faslg Fas ligand ISO
ISS
IDA		 protein:increased expression:lymphocyte
OMIM:222100
mRNA:decreased expression:lymphocyte		 MouseDO PMID:19120316, PMID:17324464, PMID:16180659 RGD:2315742, RGD:2315748, RGD:2315751 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:17617565 RGD:5508453 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036 		JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822 		JBrowse link
G Foxo1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO associated with Autoimmune Diseases;DNA:mutations: :multiple (human)
ClinVar Annotator: match by OMIM:222100		 ClinVar PMID:25741868, PMID:11137992 RGD:1598959 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544 		JBrowse link
G G6pc2 glucose-6-phosphatase catalytic subunit 2 ISS OMIM:222100 MouseDO NCBI chr 3:55,464,528...55,467,170 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Gad2 glutamate decarboxylase 2 susceptibility
onset		 ISO
ISS		 OMIM:222100 MouseDO PMID:19085183, PMID:19741189, PMID:19188044, PMID:18005036 RGD:2313294, RGD:2313289, RGD:2313292, RGD:2313296 NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040 		JBrowse link
G Gal galanin and GMAP prepropeptide IEP
ISO		 mRNA, protein:increased expression:celiac ganglion
protein:increased expression:plasma		 RGD PMID:16487586, PMID:16060906 RGD:1624331, RGD:2313736 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925 		JBrowse link
G Gc GC, vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581 		JBrowse link
G Gh1 growth hormone 1 ISO
IDA		 protein:increased expression:serum RGD PMID:3097114, PMID:7298798, PMID:2888037 RGD:2315684, RGD:2315674, RGD:2315685 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180 		JBrowse link
G Ghr growth hormone receptor ISO mRNA, protein:decreased expression:kidney, liver RGD PMID:11469393, PMID:12054124 RGD:2307367, RGD:2307366 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339, PMID:12031988 RGD:619544, RGD:633092 NCBI chr 4:78,377,228...78,386,683
Ensembl chr 4:78,378,144...78,385,577 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO RGD PMID:16390810 RGD:2306629 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 IEP mRNA:decreased expression:islets of Langerhans (rat) RGD PMID:23111281 RGD:7794858 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198 		JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-DEPENDENT, 1
ClinVar Annotator: match by OMIM:222100		 OMIM
ClinVar		 PMID:8866553, PMID:8945470, PMID:9032114, PMID:9045858, PMID:9075818, PMID:9075819, PMID:9166684, PMID:9313763, PMID:9392505, PMID:9439666, PMID:9754819, PMID:10333057, PMID:10447526, PMID:10585442, PMID:10754480, PMID:11058894, PMID:11296231, PMID:11315851, PMID:11719843, PMID:12050210, PMID:12355088, PMID:12530534, PMID:12574234, PMID:12618559, PMID:15649945, PMID:15928245, PMID:16274290, PMID:16562587, PMID:16917892, PMID:17054605, PMID:17407387, PMID:17440016, PMID:17573900, PMID:17937063, PMID:17989309, PMID:18003757, PMID:18414213, PMID:18672310, PMID:18838325, PMID:19754856, PMID:19929997, PMID:20393147, PMID:21051477, PMID:21170474, PMID:21224407, PMID:21628466, PMID:21696527, PMID:21761282, PMID:22432108, PMID:23139355, PMID:23348805, PMID:23551881, PMID:23607861, PMID:24915262, PMID:25174781, PMID:25414397, PMID:25483937, PMID:25555642, PMID:25741868, PMID:26467025, PMID:27899486, PMID:28492532, PMID:28701371, PMID:29207974, PMID:30155490, PMID:30202817 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342 		JBrowse link
G Hp haptoglobin treatment IEP
ISO
IDA		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD PMID:16506275, PMID:20975081, PMID:20853098 RGD:11041804, RGD:11041868 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16616286, PMID:16616286, PMID:11916625 RGD:2308923, RGD:2308924 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307 		JBrowse link
G Iapp islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417, PMID:19190104 RGD:2313357, RGD:2313356 NCBI chr 4:176,509,863...176,517,903
Ensembl chr 4:176,510,696...176,516,083 		JBrowse link
G Ica1 islet cell autoantigen 1 onset ISO mRNA, protein:decreased expression:thymus gland RGD PMID:11751995, PMID:14679103, PMID:8647206 RGD:2311487, RGD:2311486, RGD:2311488 NCBI chr 4:34,635,509...34,780,187
Ensembl chr 4:34,635,506...34,780,193 		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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Ifng interferon gamma ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD PMID:21340626, PMID:18644830, PMID:8977415 RGD:2311493, RGD:10755748 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISS OMIM:222100 MouseDO NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO CTD Direct Evidence: therapeutic CTD PMID:24632065, PMID:19156625, PMID:15356074, PMID:16887362 RGD:2306688, RGD:2313769, RGD:2313765 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609 		JBrowse link
G Igf2 insulin-like growth factor 2 IEP mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO RGD PMID:16887362, PMID:15356074 RGD:2313765, RGD:2313769 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480, PMID:17997340 RGD:2308949 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919, PMID:17670937 RGD:2313577, RGD:2313574 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:small intestine mucosa
mRNA:increased expression:pancreatic islet, leukocyte		 RGD PMID:2405400, PMID:17953531, PMID:12941768, PMID:8612552 RGD:2311075, RGD:2311064, RGD:2311065, RGD:2311067 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO
ISS		 protein:decreased expression:pancreatic islet
OMIM:222100
DNA:polymorphism
DNA:SNP (human)		 MouseDO PMID:7835294, PMID:8911996, PMID:11197691 RGD:2311068, RGD:6892703, RGD:2311106 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670 		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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il2 interleukin 2 onset ISO RGD PMID:17670937, PMID:3514237 RGD:2313574, RGD:10047089 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854 		JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166 		JBrowse link
G Il27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha onset ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism		 CTD PMID:17676041, PMID:19119414, PMID:19701192, PMID:30224649, PMID:19119414, PMID:19106270 RGD:2311527, RGD:2311528 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071 		JBrowse link
G Il4 interleukin 4 ISS OMIM:222100 MouseDO NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531 		JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-174G>C (human)
protein:increased expression:serum:
protein:increased expression:extracellular space (mouse)
protein:increased expression:extracellular space (human)		 OMIM PMID:19127455, PMID:17725274, PMID:16960101, PMID:19382103 RGD:2307275, RGD:7829749, RGD:2307279, RGD:2307193 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic		 CTD PMID:17151334, PMID:20620209, PMID:29420703, PMID:18824271 RGD:2311114 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISS OMIM:222100 MouseDO NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961 		JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO OMIM NCBI chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12524280, PMID:15115830, PMID:15448106, PMID:15448107, PMID:15531505, PMID:15580558, PMID:15583126, PMID:15718250, PMID:15838686, PMID:16087682, PMID:16205880, PMID:16339180, PMID:16602010, PMID:16609879, PMID:16636122, PMID:16670688, PMID:16731837, PMID:16816952, PMID:16885550, PMID:17021801, PMID:17065345, PMID:17213273, PMID:17327377, PMID:17475937, PMID:17490422, PMID:17491708, PMID:17635943, PMID:17901525, PMID:18025464, PMID:18414213, PMID:18548275, PMID:18662362, PMID:18924582, PMID:19065048, PMID:19247925, PMID:19345438, PMID:20220270, PMID:20466780, PMID:21352428, PMID:23434183, PMID:23462667, PMID:23959658, PMID:25308342, PMID:26467025, PMID:26839896, PMID:28460053, PMID:28480665 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 disease_progression ISO associated with lymphocytic choriomeningitis RGD PMID:22944096 RGD:38676492 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653 		JBrowse link
G Lgals3 galectin 3 IEP RGD PMID:16600178 RGD:9685204 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537 		JBrowse link
G Lipc lipase C, hepatic type ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248 		JBrowse link
G Lta lymphotoxin alpha 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:19120272, PMID:11141334, PMID:17989340 RGD:2313264, RGD:8548842, RGD:2313262, RGD:2313253, RGD:2313263, RGD:2313257 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677 		JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:9313747, PMID:17827401 RGD:2311545, RGD:2311544 NCBI chr 7:12,918,352...12,922,509
Ensembl chr 7:12,918,710...12,922,112 		JBrowse link
G Mbl2 mannose binding lectin 2 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G Mir146a microRNA 146a susceptibility ISO DNA:SNP: :rs2910164 (human) RGD PMID:28101643 RGD:24922224 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570 		JBrowse link
G Mir155 microRNA 155 susceptibility ISO DNA:SNP: :rs767649 (human) RGD PMID:28101643 RGD:24922224 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 susceptibility ISO DNA:transversion: :m.7778G>T (mouse) RGD PMID:19759059 RGD:5490297 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358 		JBrowse link
G Neurod1 neuronal 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 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741 		JBrowse link
G Nog noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO
ISS		 OMIM:222100 MouseDO PMID:19535454 RGD:2313214 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Notch4 notch receptor 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785 		JBrowse link
G Pax4 paired box 4 susceptibility ISO DNA:polymorphism: :p.R133W (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:15509590, PMID:15834548 RGD:2311634, RGD:2311633 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO
ISS		 OMIM:222100 MouseDO PMID:17383157 RGD:2311310 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213 		JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:14652638 RGD:2311676 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009 		JBrowse link
G Ppbp pro-platelet basic protein ISO RGD PMID:14730686 RGD:1625598 NCBI chr14:18,852,433...18,853,237
Ensembl chr14:18,851,954...18,853,315 		JBrowse link
G Prf1 perforin 1 ISS OMIM:222100 MouseDO NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382 		JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286 		JBrowse link
G Prrc2a proline-rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:10987645, PMID:15842729 RGD:2306964, RGD:2306963 NCBI chr20:5,139,881...5,155,371
Ensembl chr20:5,139,882...5,155,293 		JBrowse link
G Prss1 serine protease 1 IEP protein:increased expression:serum RGD PMID:3833185 RGD:1599966 NCBI chr 4:70,776,046...70,779,249
Ensembl chr 4:70,776,046...70,779,249 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO GAD PMID:15118671 RGD:1331525 NCBI chr20:3,990,809...3,993,772
Ensembl chr20:3,990,613...3,993,769 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845 		JBrowse link
G Pth parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility
onset		 ISO
IAGP		 DNA:snp: cds: 1858C>T
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.R620W (rs2476601) (human)
DNA:missense mutation:cds:p.A629T (rat)		 CTD
OMIM		 PMID:21190368, PMID:30224649, PMID:15004560, PMID:20176734, PMID:25505293, PMID:25513733, PMID:21873553 RGD:6484524, RGD:11533996, RGD:9835029, RGD:11532754, RGD:6484692 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO
IDA		 RGD PMID:19741189, PMID:7568143 RGD:2313289, RGD:729710 NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903 		JBrowse link
G Ptprn2 protein tyrosine phosphatase, receptor type N2 ISO
ISS		 OMIM:222100 MouseDO PMID:12419281, PMID:18193190 RGD:2311684, RGD:2311682 NCBI chr 6:144,384,773...145,133,042
Ensembl chr 6:144,384,773...145,133,042 		JBrowse link
G Ran RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr12:31,319,556...31,324,105
Ensembl chr12:31,320,624...31,323,810 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO human protein in a mouse model RGD PMID:9564847 RGD:9850125 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082 		JBrowse link
G Retn resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249 		JBrowse link
G RT1-Ba RT1 class II, locus Ba onset
susceptibility		 ISO DNA:polymorphisms: :multiple
CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)		 CTD PMID:26168013, PMID:12021143, PMID:16731854, PMID:18769865, PMID:17728790 RGD:2301817, RGD:2301812, RGD:2301811, RGD:5147626 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Bb RT1 class II, locus Bb 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)		 OMIM
CTD		 PMID:26168013, PMID:20858521, PMID:28247576, PMID:10562813, PMID:17728790, PMID:20510319 RGD:5147569, RGD:14865008, RGD:11041764, RGD:5147626, RGD:5147575 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:11812739 RGD:5490164 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset		 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)		 CTD PMID:26168013, PMID:12270547, PMID:20510319, PMID:20858521 RGD:2314698, RGD:5147575, RGD:5147569 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:7576003 RGD:6480651 NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461 		JBrowse link
G Sele selectin E ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341 		JBrowse link
G Sell selectin L ISS OMIM:222100 MouseDO NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631 		JBrowse link
G Senp1 SUMO specific peptidase 1 ISS OMIM:222100 MouseDO NCBI chr 7:139,626,444...139,684,587
Ensembl chr 7:139,630,515...139,675,245 		JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224649 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:SNP:intron:rs3731865 (human)
DNA:polymorphism: :274C>T (human)
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:16597321, PMID:21524304, PMID:19768110, PMID:16550170, PMID:15877293 RGD:5684926, RGD:5684932, RGD:5684950, RGD:5684955 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 IDA
ISO		 protein:decreased expression:pancreas (human) RGD PMID:16710474, PMID:19223416 RGD:2317333, RGD:5131199 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477, PMID:20140240 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361 		JBrowse link
G Sod1 superoxide dismutase 1 ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISS OMIM:222100 MouseDO NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:insertion:intron (human)
DNA:polymorphisms (human)
DNA:mutation:promoter (mouse)		 RGD PMID:9458110, PMID:9129974, PMID:9300732 RGD:2312369, RGD:2312371, RGD:2312370 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:1300236, PMID:17192492 RGD:2312373, RGD:2312368 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587 		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 chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449 		JBrowse link
G Tf transferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Thbd thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072 		JBrowse link
G Tlr2 toll-like receptor 2 no_association ISO DNA:SNP: :1350T>C (human)
protein:increased expression:monocyte
DNA:SNP: :rs3804100 (human)		 RGD PMID:17130564, PMID:17707128, PMID:18029454, PMID:19148143, PMID:15699513 RGD:2312687, RGD:2312684, RGD:2312683, RGD:2312679, RGD:2312686 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		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 chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:monocyte RGD PMID:18029454, PMID:16728431 RGD:2312683, RGD:2312492 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:23640034, PMID:19120272 RGD:2313253 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO RGD PMID:12882912, PMID:18057577 RGD:2312743, RGD:2312740 NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:222100 MouseDO NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778 		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 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005 		JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA, protein:increased expression:liver RGD PMID:9841869 RGD:1600450 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110 		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 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582 		JBrowse link
G Vwf von Willebrand factor IEP RGD PMID:10729383 RGD:13673887 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein no_association 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 chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966 		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 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632 		JBrowse link
G Yy1 YY1 transcription factor treatment IAGP
IEP		 DNA:SNPs:intron RGD PMID:15234341, PMID:15619288 RGD:9588271, RGD:9588274 NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046 		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
ClinVar Annotator: match by OMIM:614296		 OMIM
ClinVar		 PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:29529044 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966 		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 Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:19471859, PMID:28492532, PMID:30443250 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925 		JBrowse link
G Foxp3 forkhead box P3 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
ClinVar Annotator: match by OMIM:304790		 ClinVar
CTD
OMIM		 PMID:10706361, PMID:11120765, PMID:11137992, PMID:11137993, PMID:11295725, PMID:12161590, PMID:15096376, PMID:16741580, PMID:16920951, PMID:17635943, PMID:18414213, PMID:18931102, PMID:18951619, PMID:19471859, PMID:20650610, PMID:21036387, PMID:24033266, PMID:24250806, PMID:24258212, PMID:24982679, PMID:25326164, PMID:25741868, PMID:25911531, PMID:26661331, PMID:27783946, PMID:28492532, PMID:28778586, PMID:28783662, PMID:29896738, PMID:30443250, PMID:11137992 RGD:1598959 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522 		JBrowse link
Mauriac Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Mauriac syndrome ClinVar PMID:27207549 NCBI chr 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052 		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 subunit alpha susceptibility ISO ClinVar Annotator: match by OMIM:601942
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 10
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17676041, PMID:25741868, PMID:28492532 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071 		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: Diabetes mellitus, insulin-dependent, 12 OMIM
ClinVar		 PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065 		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 ISS OMIM:125852 MouseDO NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2 ClinVar PMID:17855560, PMID:18192540, PMID:18414213 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by OMIM:125852
DNA:missense mutation:cds:p.C96Y (mouse)		 ClinVar
OMIM		 PMID:17855560, PMID:18192540, PMID:18414213, PMID:17911348 RGD:14401710 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034 		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: Diabetes mellitus, insulin-dependent, 20
ClinVar Annotator: match by OMIM:612520		 OMIM
ClinVar		 PMID:8866553, PMID:8945470, PMID:9032114, PMID:9045858, PMID:9075818, PMID:9166684, PMID:9313763, PMID:9392505, PMID:9439666, PMID:10333057, PMID:10447526, PMID:10585442, PMID:10754480, PMID:11058894, PMID:11315851, PMID:11463573, PMID:11668618, PMID:12050210, PMID:12355088, PMID:12453976, PMID:12530534, PMID:12574234, PMID:12618559, PMID:12627330, PMID:15114102, PMID:15649945, PMID:15726414, PMID:15928245, PMID:17054605, PMID:17407387, PMID:17440016, PMID:17573900, PMID:17937063, PMID:17989309, PMID:18414213, PMID:18672310, PMID:19150152, PMID:21051477, PMID:21224407, PMID:21395678, PMID:21628466, PMID:21648289, PMID:23551881, PMID:23607861, PMID:23610083, PMID:25174781, PMID:25741868, PMID:26431509, PMID:26467025, PMID:29207974 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342 		JBrowse link
type 1 diabetes mellitus 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tagap T-cell activation RhoGTPase activating protein ISO OMIM NCBI chr 1:47,493,990...47,503,492
Ensembl chr 1:47,493,994...47,502,952 		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 C-C motif chemokine receptor 5 ISO OMIM NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614 		JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumo4 small ubiquitin-like modifier 4 ISO ClinVar Annotator: match by OMIM:600320 OMIM
ClinVar		 PMID:15123604, PMID:15247916, PMID:15678134, PMID:15678135, PMID:15678137 NCBI chr 5:14,983,382...14,984,134
Ensembl chr 5:14,983,371...14,984,364 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by null ClinVar PMID:15123604, PMID:15247916, PMID:15678134, PMID:15678135, PMID:15678137 NCBI chr 1:1,999,574...2,017,574
Ensembl chr 1:1,999,596...2,073,896 		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 neuronal differentiation 1 ISS OMIM:600321 MouseDO NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741 		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 DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
ClinVar Annotator: match by OMIM:226980		 ClinVar
OMIM		 PMID:7551159, PMID:10932183, PMID:12960215, PMID:16813601, PMID:25741868, PMID:26380986, PMID:28492532, PMID:10932183 RGD:734923 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by OMIM:222300
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18544103, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:29529044, PMID:30014265, PMID:30311386, PMID:9771706 RGD:1599813 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966 		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 ISO ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 OMIM
ClinVar		 PMID:10679252, PMID:10760554, PMID:11161832, PMID:11317350, PMID:12107816, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:17492394, PMID:17517145, PMID:18414213, PMID:18544103, PMID:20738327, PMID:21446023, PMID:21602428, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23990876, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:27185633, PMID:28492532 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966 		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 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928		 OMIM
ClinVar
CTD		 PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560 		JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        diabetes mellitus 1371
          type 1 diabetes mellitus 302
            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
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 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 0
            type 1 diabetes mellitus 18 0
            type 1 diabetes mellitus 19 0
            type 1 diabetes mellitus 2 3
            type 1 diabetes mellitus 20 1
            type 1 diabetes mellitus 21 1
            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 2
            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 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        immune system disease 2927
          primary immunodeficiency disease 2344
            autoimmune disease 1663
              autoimmune disease of endocrine system 368
                type 1 diabetes mellitus 302
                  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
                  immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 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 0
                  type 1 diabetes mellitus 18 0
                  type 1 diabetes mellitus 19 0
                  type 1 diabetes mellitus 2 3
                  type 1 diabetes mellitus 20 1
                  type 1 diabetes mellitus 21 1
                  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 2
                  type 1 diabetes mellitus 6 0
                  type 1 diabetes mellitus 7 1
                  type 1 diabetes mellitus 8 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.