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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
 broad_synonym: ITPR3-related condition
 related_synonym: DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO;   DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO;   Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to
 xref: EFO:0009757;   GARD:10268;   MESH:D003922;   MIM:222100;   MIM:300136;   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 Abcc8 ATP binding cassette subfamily C member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18025464 NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982 		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 chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:2658981 RGD:2312438 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:25,043,461...25,050,410 		JBrowse link
G Acp1 acid phosphatase 1 onset ISO RGD PMID:15586390 PMID:11912546 RGD:2313182, RGD:2313186 NCBI chr 6:53,233,937...53,249,576
Ensembl chr 6:53,233,948...53,251,959 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Adrb1 adrenoceptor beta 1 IEP RGD PMID:21491159 RGD:6893642 NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:265,766,079...265,849,237 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:renal cortex (mouse)
protein:decreased expression:serum (human)
DNA:SNP:promoter:-374T>A (human)
DNA:SNP, haplotype: :557G>A (p.G82S) (human) 		RGD PMID:18420491 PMID:21738623 PMID:21870072 PMID:16969646 PMID:10553500 RGD:2325657, RGD:7243937, RGD:7244183, RGD:8695958, RGD:8695961 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		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 chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO RGD PMID:12706323 RGD:2311151 NCBI chr12:40,610,244...40,643,220
Ensembl chr12:40,610,224...40,643,219 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,559,061...55,567,723 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr10:86,773,018...86,780,961 JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr13:86,176,767...86,178,819
Ensembl chr13:86,174,741...86,179,410 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:19171731 PMID:1579407 RGD:2313980, RGD:2313972 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814 		JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO
IMP 		DNA:polymorphisms: :multiple RGD PMID:1579407 PMID:16505251 PMID:21670290 RGD:2313972, RGD:2306765, RGD:7207205 NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:55,428,024...55,458,679 		JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:urine (human) GAD
RGD		 PMID:15118671 PMID:22678621 RGD:1331525, RGD:6903197 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr10:93,841,992...93,855,897
Ensembl chr10:93,841,966...93,857,127 		JBrowse link
G Apom apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr20:3,695,618...3,698,218
Ensembl chr20:3,692,737...3,698,218 		JBrowse link
G Avp arginine vasopressin IAGP RGD PMID:13995944 PMID:5692127 RGD:2314661, RGD:632128 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522 		JBrowse link
G Avpdi arginine vasopressin; diabetes insipidus mutant IAGP RGD PMID:13995944 PMID:5692127 RGD:2314661, RGD:632128
G B2m beta-2 microglobulin ISO RGD PMID:11572996 PMID:15446308 RGD:2311238, RGD:2311235 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356 		JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 5:51,428,802...51,779,030
Ensembl chr 5:51,434,870...51,774,234 		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 2:227,203,998...227,474,008
Ensembl chr 2:227,203,998...227,474,037 		JBrowse link
G Bche butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein treatment ISO
IEP 		protein:decreased expression:plasma
protein:increased expression:serum: 		RGD PMID:21041817 PMID:9850345 PMID:31096652 RGD:7207232, RGD:7207419, RGD:598092496 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		JBrowse link
G Bmal2 basic helix-loop-helix ARNT like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr 4:181,429,097...181,478,384
Ensembl chr 4:181,430,159...181,478,382 		JBrowse link
G Btc betacellulin susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr14:16,992,668...17,031,178
Ensembl chr14:16,992,193...17,033,078 		JBrowse link
G C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:10588527 PMID:12488962 PMID:23348805 PMID:24728327 PMID:25741868 More... NCBI chr12:47,332,740...47,338,461
Ensembl chr12:47,332,027...47,338,359 		JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 7:111,958,348...111,964,948
Ensembl chr 7:111,958,350...111,966,871 		JBrowse link
G C3 complement C3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Casp12 caspase 12 IEP
ISO 		protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:23499715 PMID:15855338 RGD:2311451 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:10,926,994...10,954,442 		JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Casp8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699 		JBrowse link
G Casp9 caspase 9 ISO RGD PMID:17880769 PMID:14617576 RGD:2311245, RGD:2311322 Ensembl chr 5:159,391,188...159,409,648 JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Cblb Cbl proto-oncogene B no_association
susceptibility 		ISO
IAGP
IDA 		DNA:SNP:exon:rs3772534 (human)
DNA:SNPs: :multiple (human)
DNA:missense mutations: :multiple (human)
DNA:nonsense mutation (rat) 		RGD PMID:17209142 PMID:14961073 PMID:15629882 PMID:18201552 PMID:12118252 More... RGD:2314039, RGD:2314041, RGD:2314040, RGD:2314037, RGD:625457, RGD:625457 NCBI chr11:62,058,829...62,225,904
Ensembl chr11:62,061,653...62,225,778 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575 		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 chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884 		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 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO
IEP 		protein:decreased expression:blood, mononuclear cell
mRNA:increased expression:splenocyte (rat)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 		RGD PMID:12145160 PMID:15240727 PMID:23773920 RGD:2317571, RGD:4890459, RGD:8551818 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
G Cd14 CD14 molecule ISO protein:increased expression:monocyte RGD PMID:14614560 PMID:10831941 RGD:2314173, RGD:2314175 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292 		JBrowse link
G Cd28 Cd28 molecule onset ISO DNA:polymorphism:intron (human)
protein:decreased expression:T cell 		RGD PMID:11685455 PMID:9410902 PMID:15504310 RGD:2307199, RGD:2307201, RGD:2307197 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd38 CD38 molecule disease_progression ISO
ISS 		OMIM:222100 MouseDO
RGD		 PMID:16459468 PMID:16920929 PMID:12488956 RGD:2307230, RGD:2307229, RGD:2307231 NCBI chr14:71,384,532...71,424,794
Ensembl chr14:71,384,532...71,424,505 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd40lg CD40 ligand treatment ISO
IMP 		protein:increased expression:serum RGD PMID:16505242 PMID:15448088 PMID:16611325 PMID:12419284 PMID:26716812 RGD:2314212, RGD:2314220, RGD:5491182, RGD:8547798, RGD:11344963 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 4:164,411,485...164,419,403
Ensembl chr 4:164,411,485...164,419,509 		JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:19658094 RGD:5132624 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540 		JBrowse link
G Cd86 CD86 molecule onset ISO human gene in mouse model
protein:decreased expression:dendritic cell
protein:decreased expression:macrophage,dendritic cell,T cell
protein:decreased expression:dendritic cells
protein:increased expression:dendritic cell 		RGD PMID:17947667 PMID:16232222 PMID:15356107 PMID:10679081 PMID:18316361 More... RGD:4892258, RGD:2313911, RGD:2313917, RGD:2313927, RGD:2313906, RGD:2313920 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO
ISS 		OMIM:222100 MouseDO
RGD		 PMID:10319860 RGD:2314613 NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:64,771,147...64,775,163 		JBrowse link
G Cel carboxyl ester lipase ISO protein:increased activity:serum RGD PMID:10580419 PMID:9536927 RGD:2313967, RGD:2313969 NCBI chr 3:32,281,518...32,289,019
Ensembl chr 3:32,281,518...32,289,019 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:serum
DNA:polymorphism 		RGD PMID:3907907 PMID:19000152 RGD:2311338, RGD:2311335 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:48,193,800...48,201,825 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr 4:65,981,136...66,116,128
Ensembl chr 4:65,981,006...66,126,464 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs725613 (human)
DNA:polymorphism:intron:rs2903692A (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17632545 PMID:18946483 PMID:18946483 PMID:19221398 RGD:2313978, RGD:5491176 NCBI chr10:5,434,725...5,631,246
Ensembl chr10:5,434,725...5,630,619 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20012460 PMID:17603912 RGD:2314682 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:20012460 PMID:22864910 PMID:20012460 RGD:6906966, RGD:8547537 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNP:promoter:-1661A>G (human)
DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human)
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human) 		RGD PMID:16671945 PMID:8817351 PMID:18443194 PMID:9259273 RGD:2301995, RGD:2301958, RGD:2301974, RGD:1300385 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Ctsb cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478 		JBrowse link
G Ctsh cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:99,488,874...99,509,181 		JBrowse link
G Ctsl cathepsin L susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO
IMP 		protein:increased expression:serum RGD PMID:16148094 PMID:16339582 PMID:19046227 RGD:2311363, RGD:2311362, RGD:2311358 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261 		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:18793419 PMID:12383202 PMID:14679085 PMID:14522095 RGD:2306563, RGD:2301942, RGD:2306562, RGD:2306561, RGD:2306560 NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:152,060,780...152,073,627 		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 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495 		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 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:65,005,501...65,006,509 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO RGD PMID:11756005 RGD:13702905 NCBI chr20:3,577,200...3,589,651
Ensembl chr20:3,576,734...3,589,651 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		JBrowse link
G Dock8 dedicator of cytokinesis 8 IAGP RGD PMID:26363782 RGD:11532657 NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833 		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 3:67,370,794...67,452,422
Ensembl chr 3:67,370,804...67,452,422 		JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:7485483 RGD:2298693 NCBI chr10:17,184,853...17,187,646
Ensembl chr10:17,184,823...17,187,644 		JBrowse link
G E2f1 E2F transcription factor 1 ISO
ISS 		E2f1/E2f2 double knockout
OMIM:222100 		MouseDO
RGD		 PMID:15146237 RGD:1300306 NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563 		JBrowse link
G E2f2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 5:153,682,789...153,706,087
Ensembl chr 5:153,682,789...153,706,087 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Egfr epidermal growth factor receptor IEP protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:104,363,833...104,425,268 		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 8:39,303,936...39,426,022
Ensembl chr 8:39,303,925...39,426,021 		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 chr16:83,191,896...83,202,775
Ensembl chr16:83,191,914...83,202,738 		JBrowse link
G Fads2 fatty acid desaturase 2 treatment IEP associated with hypertension RGD PMID:15589689 RGD:401901188 NCBI chr 1:216,132,277...216,172,190
Ensembl chr 1:216,133,676...216,172,066 		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 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand ISO
IDA
ISS 		protein:increased expression:lymphocyte
mRNA:decreased expression:lymphocyte
OMIM:222100 		MouseDO
RGD		 PMID:19120316 PMID:16180659 PMID:17324464 RGD:2315742, RGD:2315751, RGD:2315748 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:17617565 RGD:5508453 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr 1:105,219,825...105,221,376
Ensembl chr 1:105,219,825...105,232,056 		JBrowse link
G Foxo1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:138,462,697...138,541,419 		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:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 5:153,436,262...153,453,512
Ensembl chr 5:153,436,248...153,453,511 		JBrowse link
G G6pc2 glucose-6-phosphatase catalytic subunit 2 ISS OMIM:222100 MouseDO NCBI chr 3:74,404,976...74,413,391 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gad2 glutamate decarboxylase 2 onset
susceptibility 		ISO
ISS 		OMIM:222100 MouseDO
RGD		 PMID:19085183 PMID:18005036 PMID:19188044 PMID:19741189 RGD:2313294, RGD:2313296, RGD:2313292, RGD:2313289 NCBI chr17:89,671,718...89,734,246
Ensembl chr17:89,671,716...89,941,089 		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 1:210,079,709...210,084,572
Ensembl chr 1:210,079,702...210,084,229 		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 chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		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 chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Gc GC, vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Gh1 growth hormone 1 ISO
IDA 		protein:increased expression:serum RGD PMID:3097114 PMID:2888037 PMID:7298798 RGD:2315684, RGD:2315685, RGD:2315674 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		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 2:54,269,066...54,532,595
Ensembl chr 2:54,270,206...54,532,331 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339 PMID:12031988 RGD:619544, RGD:633092 NCBI chr 4:79,025,151...79,031,917
Ensembl chr 4:79,024,304...79,039,030 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:235,389,567...235,809,416
Ensembl chr 1:235,392,651...235,809,221 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO RGD PMID:16390810 RGD:2306629 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 IEP mRNA:decreased expression:islets of Langerhans (rat) RGD PMID:23111281 RGD:7794858 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:147,138,156...147,165,387 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr20:42,101,815...42,126,486
Ensembl chr20:42,102,861...42,126,311 		JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr18:30,021,847...30,041,061
Ensembl chr18:30,021,941...30,041,025 		JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Type I diabetes mellitus 		OMIM
CTD
ClinVar		 PMID:7842064 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 More... NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		JBrowse link
G Hp haptoglobin treatment IEP
IDA
ISO 		protein:increased expression:serum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16506275 PMID:20975081 PMID:20853098 RGD:11041804, RGD:11041868 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		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 chr19:50,307,569...50,312,812
Ensembl chr19:50,307,569...50,312,812 		JBrowse link
G Iapp islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417 PMID:19190104 RGD:2313357, RGD:2313356 NCBI chr 4:176,968,097...176,975,363
Ensembl chr 4:176,968,097...176,975,363 		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 4:37,622,759...37,771,055
Ensembl chr 4:37,622,759...37,770,569 		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 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Ifng interferon gamma ISO
IMP
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:222100 		CTD
MouseDO
RGD		 PMID:21340626 PMID:18644830 PMID:8977415 RGD:2311493, RGD:10755748 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISS OMIM:222100 MouseDO NCBI chr11:44,265,703...44,283,975
Ensembl chr11:44,265,703...44,283,975 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:24632065 PMID:19156625 PMID:16887362 PMID:15356074 RGD:2306688, RGD:2313765, RGD:2313769 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf2 insulin-like growth factor 2 IEP mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:50,526,878...50,615,265 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO RGD PMID:16887362 PMID:15356074 RGD:2313765, RGD:2313769 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19430480 PMID:17997340 RGD:2308949 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919 PMID:17670937 RGD:2313577, RGD:2313574 NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:44,949,989...44,958,714
Ensembl chr13:44,949,989...44,958,714 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:pancreatic islet, leukocyte
protein:increased expression:small intestine mucosa 		RGD PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531 RGD:2311075, RGD:2311067, RGD:2311065, RGD:2311064 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		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 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO
ISS 		protein:decreased expression:pancreatic islet
DNA:SNP (human)
DNA:polymorphism
OMIM:222100 		MouseDO
RGD		 PMID:7835294 PMID:11197691 PMID:8911996 RGD:2311068, RGD:2311106, RGD:6892703 NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:50,000,566...50,076,579 		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 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il2 interleukin 2 onset ISO RGD PMID:17670937 PMID:3514237 RGD:2313574, RGD:10047089 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:44,933,249...44,936,893
Ensembl chr13:44,933,249...44,936,893 		JBrowse link
G Il21 interleukin 21 susceptibility
treatment 		ISO associated with Arenaviridae infectious disease RGD PMID:27300756 PMID:28711285 RGD:127285370, RGD:127285590 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342 		JBrowse link
G Il27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha onset ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17676041 PMID:19119414 PMID:19701192 PMID:30224649 PMID:19119414 More... RGD:2311527, RGD:2311528 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ameliorates ISO RGD PMID:29367461 RGD:42733039 NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537 		JBrowse link
G Il4 interleukin 4 ISS OMIM:222100 MouseDO NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-174G>C (human)
protein:increased expression:extracellular space (human)
protein:increased expression:extracellular space (mouse)
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to 		CTD
ClinVar
OMIM
RGD		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... RGD:2307275, RGD:2307193, RGD:2307279, RGD:7829749 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus ClinVar PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 More... NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:261,186,119...261,186,682 		JBrowse link
G Ins2 insulin 2 treatment
susceptibility 		ISO
ISS 		CTD Direct Evidence: therapeutic
CTD Direct Evidence: marker/mechanism
human protein in a mouse model
human gene in a mouse model
DNA:SNP:promoter:-23A>T (rs689) (human)
associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter (human)
OMIM:222100
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus 		CTD
MouseDO
ClinVar
RGD		 PMID:11921414 PMID:17151334 PMID:17855560 PMID:18162506 PMID:18171712 More... RGD:2311114, RGD:150340605, RGD:150340606, RGD:150340607, RGD:150340608, RGD:150340611, RGD:150340612, RGD:150340614, RGD:150340615, RGD:150340616 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISS OMIM:222100 MouseDO NCBI chr 7:57,538,522...57,600,166
Ensembl chr 7:57,539,557...57,598,706 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:49,813,618...49,823,442 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:84,560,369...84,641,039 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: ITPR3-related condition 		CTD
ClinVar
OMIM		 PMID:24627108 PMID:25741868 PMID:27549087 PMID:28492532 PMID:32949214 More... NCBI chr20:5,138,553...5,204,189
Ensembl chr20:5,118,834...5,204,184 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus 		CTD
ClinVar		 PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 More... NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:105,727,570...105,731,169 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 disease_progression ISO associated with lymphocytic choriomeningitis RGD PMID:22944096 RGD:38676492 NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382 		JBrowse link
G Lgals3 galectin 3 IEP RGD PMID:16600178 RGD:9685204 NCBI chr15:23,099,795...23,111,731
Ensembl chr15:23,086,841...23,111,737 		JBrowse link
G Lipc lipase C, hepatic type ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:80,390,471...80,516,285 		JBrowse link
G Lta lymphotoxin alpha onset
susceptibility
treatment 		ISO protein:decreased expression:mononuclear cell
DNA:polymorphism: :249A>G (human)
DNA:SNP (human)
DNA:polymorphism: :252A>G (human) 		RGD PMID:9342542 PMID:17989340 PMID:11141334 PMID:19120272 PMID:12622777 More... RGD:2313264, RGD:2313257, RGD:2313263, RGD:2313253, RGD:2313262, RGD:8548842 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533 		JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:9313747 PMID:17827401 RGD:2311545, RGD:2311544 NCBI chr 7:10,686,920...10,690,322
Ensembl chr 7:10,686,250...10,690,322 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISS OMIM:222100 MouseDO NCBI chr18:66,449,196...66,516,112
Ensembl chr18:66,449,358...66,516,111 		JBrowse link
G Mbl2 mannose binding lectin 2 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mir126a microRNA 126a ISO RNA:decreased expression:serum RGD PMID:27696070 RGD:401850786 NCBI chr 3:29,813,150...29,813,267 JBrowse link
G Mir146a microRNA 146a susceptibility ISO DNA:SNP: :rs2910164 (human) RGD PMID:28101643 RGD:24922224 NCBI chr10:28,349,996...28,350,090 JBrowse link
G Mir155 microRNA 155 susceptibility ISO DNA:SNP: :rs767649 (human) RGD PMID:28101643 RGD:24922224 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		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:7,743...7,946 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:58,762,116...59,061,971 		JBrowse link
G Neurod1 neuronal differentiation 1 no_association ISO DNA:polymorphism: :p.A45T (human)
DNA:polymorphism:exon 		RGD PMID:15047635 PMID:16909454 PMID:16357810 RGD:2313487, RGD:2313481, RGD:2313483 NCBI chr 3:84,766,483...84,770,454
Ensembl chr 3:84,764,725...84,770,810 		JBrowse link
G Nog noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO
ISS 		OMIM:222100 MouseDO
RGD		 PMID:19535454 RGD:2313214 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Notch4 notch receptor 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,161,730...4,189,072 		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 4:58,023,873...58,032,265
Ensembl chr 4:58,023,914...58,028,858 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:6,129,592...6,176,974 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO
ISS 		OMIM:222100 MouseDO
RGD		 PMID:17383157 RGD:2311310 NCBI chr12:12,793,957...12,799,156
Ensembl chr12:12,793,957...12,799,156 		JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:14652638 RGD:2311676 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:118,712,412...118,780,714 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		JBrowse link
G Ppbp pro-platelet basic protein ISO RGD PMID:14730686 RGD:1625598 NCBI chr14:17,586,495...17,587,299
Ensembl chr14:17,586,495...17,587,299 		JBrowse link
G Prf1 perforin 1 ISS OMIM:222100 MouseDO NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr17:72,156,215...72,288,508
Ensembl chr17:72,156,215...72,288,508 		JBrowse link
G Prrc2a proline-rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:10987645 PMID:15842729 RGD:2306964, RGD:2306963 NCBI chr20:3,660,981...3,686,715
Ensembl chr20:3,663,400...3,678,778 		JBrowse link
G Prss1 serine protease 1 IEP protein:increased expression:serum RGD PMID:3833185 RGD:1599966 NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:71,331,246...71,334,452 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO GAD PMID:15118671 RGD:1331525 NCBI chr20:4,654,068...4,657,049
Ensembl chr20:4,654,068...4,657,031 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,668,739...4,674,421 		JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:18591390 PMID:28492532 NCBI chr17:86,959,621...86,961,475
Ensembl chr17:86,959,621...86,961,475 		JBrowse link
G Pth parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 onset
susceptibility 		ISO
IAGP 		DNA:snp: cds: 1858C>T
DNA:missense mutation:cds:p.A629T (rat)
DNA:snp:cds:p.R620W (rs2476601) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, susceptibility to 		CTD
OMIM
ClinVar
RGD		 PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... RGD:6484524, RGD:6484692, RGD:11532754, RGD:9835029, RGD:11533996 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO
IDA 		RGD PMID:19741189 PMID:7568143 RGD:2313289, RGD:729710 NCBI chr 9:84,189,676...84,205,364
Ensembl chr 9:84,189,676...84,204,850 		JBrowse link
G Ptprn2 protein tyrosine phosphatase, receptor type N2 ISO
ISS 		OMIM:222100 MouseDO
RGD		 PMID:12419281 PMID:18193190 RGD:2311684, RGD:2311682 NCBI chr 6:143,582,568...144,334,573
Ensembl chr 6:143,582,547...144,336,744 		JBrowse link
G Ran RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr12:33,311,155...33,314,339
Ensembl chr12:33,311,158...33,314,317 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO mRNA:splice variant: heart (mouse) RGD PMID:27239029 RGD:329845874 NCBI chr 7:110,691,230...110,934,901
Ensembl chr 7:110,691,230...110,934,987 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO human protein in a mouse model RGD PMID:9564847 RGD:9850125 NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:112,450,468...112,453,585 		JBrowse link
G Retn resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr12:6,508,653...6,511,115
Ensembl chr12:6,508,801...6,511,116 		JBrowse link
G Rspo1 R-spondin 1 IEP mRNA:decreased expression:ventromedial nucleus of hypothalamus RGD PMID:30649980 RGD:597830031 NCBI chr 5:142,536,162...142,557,611
Ensembl chr 5:142,536,344...142,557,776 		JBrowse link
G RT1-Ba RT1 class II, locus Ba onset
susceptibility 		ISO DNA:polymorphisms: :multiple
DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:26168013 PMID:12021143 PMID:16731854 PMID:18769865 PMID:17728790 RGD:2301817, RGD:2301812, RGD:2301811, RGD:5147626 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility
onset 		ISO DNA:polymorphisms, haplotypes:cds:multiple (human)
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)
associated with Sclerosing Lymphocytic Lobulitis
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:26168013 PMID:20858521 PMID:20510319 PMID:17728790 PMID:10562813 More... RGD:5147569, RGD:5147575, RGD:5147626, RGD:11041764, RGD:14865008 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:11812739 RGD:5490164 NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,513,908...4,520,383 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset 		ISO DNA:polymorphisms (human)
DNA:polymorphisms: :multiple (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:26168013 PMID:12270547 PMID:20858521 PMID:20510319 RGD:2314698, RGD:5147569, RGD:5147575 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:7576003 RGD:6480651 NCBI chr20:4,762,425...4,772,439
Ensembl chr20:4,763,033...4,772,141 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO RGD PMID:7576003 RGD:6480651 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574 		JBrowse link
G Runx2 RUNX family transcription factor 2 treatment IEP RGD PMID:31096652 RGD:598092496 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Sele selectin E ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr13:78,935,997...78,945,905
Ensembl chr13:78,936,036...78,945,903 		JBrowse link
G Sell selectin L ISS OMIM:222100 MouseDO NCBI chr13:78,950,100...78,969,604
Ensembl chr13:78,950,015...78,969,600 		JBrowse link
G Senp1 SUMO specific peptidase 1 ISS OMIM:222100 MouseDO NCBI chr 7:131,042,237...131,105,826
Ensembl chr 7:131,044,818...131,100,851 		JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:107,452,044...107,510,958
Ensembl chr  X:107,452,044...107,457,681 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: : (rs3184504) (human)
DNA:missense mutation:exon: (rs3184504) (human) 		CTD
RGD		 PMID:30224649 PMID:21873553 PMID:21829393 RGD:6484692, RGD:153297780 NCBI chr12:40,391,755...40,414,336
Ensembl chr12:40,392,633...40,414,335 		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
RGD		 PMID:16597321 PMID:21524304 PMID:19768110 PMID:16550170 PMID:15877293 RGD:5684926, RGD:5684932, RGD:5684950, RGD:5684955 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238 		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 1:268,399,815...268,435,229
Ensembl chr 1:268,400,016...268,435,231 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr20:29,191,086...29,228,299
Ensembl chr20:29,191,127...29,228,299 		JBrowse link
G Sod1 superoxide dismutase 1 ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:115,543,290...115,600,943 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISS OMIM:222100 MouseDO NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO 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 chr20:4,658,171...4,668,543
Ensembl chr20:4,658,172...4,668,810 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:1300236 PMID:17192492 RGD:2312373, RGD:2312368 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,638,257...4,651,537 		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 1:65,136,420...65,153,515
Ensembl chr 1:65,136,448...65,190,899 		JBrowse link
G Tf transferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 More... NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227 		JBrowse link
G Thbd thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214 		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 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		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 chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:monocyte RGD PMID:18029454 PMID:16728431 RGD:2312683, RGD:2312492 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment IEP RGD PMID:31096652 RGD:598092496 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO RGD PMID:12882912 PMID:18057577 RGD:2312743, RGD:2312740 NCBI chr 2:112,136,550...112,155,903 JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment IEP RGD PMID:31096652 RGD:598092496 NCBI chr15:60,083,008...60,114,479
Ensembl chr15:60,083,008...60,114,479 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:222100 MouseDO NCBI chr13:76,256,654...76,280,133
Ensembl chr13:76,256,654...76,280,133 		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 8:27,918,054...27,943,319
Ensembl chr 8:27,916,496...27,943,278 		JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:164,227,882...164,241,210 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA, protein:increased expression:liver RGD PMID:9841869 RGD:1600450 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:2,248,856...2,295,905
Ensembl chr 9:2,248,914...2,296,922 		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 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:44,470,462...44,478,558 		JBrowse link
G Vwf von Willebrand factor IEP RGD PMID:10729383 RGD:13673887 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein no_association ISO DNA:mutations:exons, 5' utr, 3' utr:multiple
DNA:missense mutation: :p.R456H (human) 		RGD PMID:15056606 PMID:15008830 PMID:10679252 RGD:8694393, RGD:8694396, RGD:8694402 NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		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 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		JBrowse link
G Yy1 YY1 transcription factor treatment IAGP
IEP 		DNA:SNPs:intron RGD PMID:15234341 PMID:15619288 RGD:9588271, RGD:9588274 NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:133,471,562...133,497,257 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr17:51,945,975...52,040,218
Ensembl chr17:51,946,701...52,037,257 		JBrowse link
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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1161832 PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		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 anchoring protein 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:18,107,275...18,117,549 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,780,932...3,845,919
Ensembl chr  X:3,780,932...3,792,611 		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:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		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:17,437,219...17,443,716
Ensembl chr  X:17,425,624...17,444,717 		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:17,570,184...17,582,130
Ensembl chr  X:17,535,659...17,582,130 		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:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801 		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:4,046,330...4,057,825
Ensembl chr  X:4,026,866...4,057,380 		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:3,715,551...3,721,113
Ensembl chr  X:3,710,425...3,721,112 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		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:18,253,849...18,385,805
Ensembl chr  X:18,256,463...18,385,640 		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 chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:16,971,405...16,977,781 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:3,693,293...3,709,249 		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:17,245,915...17,250,301
Ensembl chr  X:17,245,789...17,250,293 		JBrowse link
G Foxp3 forkhead box P3 ISO
ISS 		DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
OMIM:304790
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More... RGD:1598959 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:16,916,033...16,923,999 		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:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		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:17,145,936...17,160,733
Ensembl chr  X:17,145,938...17,160,619 		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:17,463,521...17,478,298
Ensembl chr  X:17,463,525...17,478,298 		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:17,350,817...17,380,626
Ensembl chr  X:17,350,819...17,380,588 		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:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		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:4,222,369...4,424,164
Ensembl chr  X:4,223,425...4,398,627 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,333,612...17,349,255
Ensembl chr  X:17,333,612...17,347,799 		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:17,496,092...17,504,370
Ensembl chr  X:17,496,225...17,504,369 		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:17,930,647...17,930,726
Ensembl chr  X:17,930,637...17,930,728 		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:17,919,185...17,919,263
Ensembl chr  X:17,919,185...17,919,263 		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:4,126,317...4,128,575
Ensembl chr  X:4,126,245...4,128,566 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,296,750...17,331,257
Ensembl chr  X:17,298,029...17,331,054 		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:17,251,963...17,255,405
Ensembl chr  X:17,251,965...17,257,360 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:17,289,509...17,294,778 		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:17,506,153...17,509,552
Ensembl chr  X:17,506,059...17,509,550 		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:16,957,811...16,970,440
Ensembl chr  X:16,957,810...16,970,439 		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:17,581,467...17,617,087
Ensembl chr  X:17,601,239...17,617,102 		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:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,445,313...17,447,950
Ensembl chr  X:17,445,313...17,447,950 		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:17,509,551...17,520,157
Ensembl chr  X:17,509,554...17,520,122 		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:4,093,914...4,126,060
Ensembl chr  X:4,093,914...4,126,060 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:17,020,864...17,024,841 		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:4,172,537...4,190,112
Ensembl chr  X:4,172,537...4,190,251 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:4,426,071...4,470,200
Ensembl chr  X:4,403,052...4,530,576 		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:18,537,371...18,748,665
Ensembl chr  X:18,540,913...18,748,700 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		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:16,885,701...16,894,470
Ensembl chr  X:16,885,701...16,894,470 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:4,767,578...4,948,602
Ensembl chr  X:4,767,915...4,948,602 		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:3,472,369...3,475,552
Ensembl chr  X:3,472,369...3,475,822 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,603,888...16,612,203
Ensembl chr  X:16,604,449...16,612,210 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,093,059...17,105,942
Ensembl chr  X:17,092,986...17,105,942 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:146,828,818...146,831,485 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:3,725,745...3,780,940
Ensembl chr  X:3,725,714...3,780,938 		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:17,521,348...17,536,449
Ensembl chr  X:17,521,348...17,536,984 		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:16,986,629...17,010,228
Ensembl chr  X:16,986,269...17,010,230 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,401,466...17,414,829
Ensembl chr  X:17,401,466...17,414,685 		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:17,268,257...17,275,424
Ensembl chr  X:17,268,257...17,275,563 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		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:4,062,216...4,084,192
Ensembl chr  X:4,062,182...4,084,246 		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:4,026,865...4,043,036 JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:17,794,884...17,798,879 		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:3,679,630...3,691,944
Ensembl chr  X:3,679,687...3,695,442 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		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:17,034,779...17,045,682
Ensembl chr  X:17,034,504...17,045,679 		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:17,448,195...17,454,117
Ensembl chr  X:17,448,207...17,454,117 		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 chr12:21,356,253...21,393,006
Ensembl chr12:21,362,004...21,384,470 		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:3,480,991...3,555,009
Ensembl chr  X:3,472,127...3,555,013 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,581,501...3,679,905
Ensembl chr  X:3,589,044...3,679,333 		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 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G LOC120095693 small ubiquitin-related modifier 2-like ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 More... NCBI chr11:92,667,392...92,668,480 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 More... NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:4,195,400...4,245,485 		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 PMID:28492532 NCBI chr 1:191,614,738...191,627,615
Ensembl chr 1:191,614,865...191,627,616 		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 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 10
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 12 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 		CTD
OMIM
ClinVar		 PMID:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		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 chain 9 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 ClinVar PMID:25741868 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		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 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:261,186,119...261,186,682 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.C96Y (mouse) 		OMIM
ClinVar
CTD
RGD		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... RGD:14401710 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:80,390,471...80,516,285 		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 More... NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227 		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 term: Type 1 diabetes mellitus 20
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		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 susceptibility ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 22
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:25741868 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC120095693 small ubiquitin-related modifier 2-like ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 More... NCBI chr11:92,667,392...92,668,480 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 More... NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:4,195,400...4,245,485 		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 3:84,766,483...84,770,454
Ensembl chr 3:84,764,725...84,770,810 		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
ISS 		DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: EIF2AK3-related condition | ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
OMIM:226980
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7551159 PMID:9536098 PMID:10932183 PMID:11997520 PMID:12960215 More... RGD:734923 NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:104,363,833...104,425,268 		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:2,729...3,685 		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 chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		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
ISS 		ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300 		OMIM
ClinVar
MouseDO		 PMID:1161832 PMID:1615141 PMID:3095763 PMID:3126496 PMID:3387915 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		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: CISD2-related condition | 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 2:226,502,517...226,527,325
Ensembl chr 2:226,502,517...226,540,080 		JBrowse link
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:83,175,708...83,178,739
Ensembl chr10:83,175,568...83,178,751 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:83,178,926...83,191,610
Ensembl chr10:83,179,916...83,183,999 		JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 2:226,442,892...226,502,966
Ensembl chr 2:226,442,892...226,491,941 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      endocrine system disease 7055
        diabetes mellitus 1681
          type 1 diabetes mellitus 388
            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 + 7
            fulminant type 1 diabetes 0
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 65
            latent autoimmune diabetes in adults 3
            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 5
            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 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 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          inherited metabolic disorder 6649
            carbohydrate metabolic disorder 3434
              glucose metabolism disease 2174
                diabetes mellitus 1681
                  type 1 diabetes mellitus 388
                    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 + 7
                    fulminant type 1 diabetes 0
                    immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 65
                    latent autoimmune diabetes in adults 3
                    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 5
                    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 2
                    type 1 diabetes mellitus 6 0
                    type 1 diabetes mellitus 7 1
                    type 1 diabetes mellitus 8 0
paths to the root