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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:type 1 diabetes mellitus
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Accession:DOID:9744 term browser browse the term
Definition:A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. (DO)
Synonyms:exact_synonym: IDDM;   IDDM1;   IDDMX;   Insulin-Dependent Diabetes Mellitus 1;   T1D;   autoimmune diabetes;   brittle diabetes mellitus;   diabetes mellitus, type I;   insulin-dependent diabetes mellitus;   juvenile-onset diabetes mellitus;   sudden-onset diabetes mellitus;   type 1 diabetes
 narrow_synonym: JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1;   JUVENILE-ONSET DIABETES;   idiopathic type 1 diabetes;   neonatal insulin-dependent diabetes mellitus;   virus-induced diabetes
 related_synonym: DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO;   Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to
 primary_id: MESH:D003922
 alt_id: MIM:222100;   MIM:300136
 xref: EFO:0001359;   EFO:0009757;   GARD:10268;   MONDO:0005147;   NCI:C2986

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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 1:47,494,861...47,578,818
Ensembl chr 1:47,494,959...47,578,882 		JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) ISO RGD PMID:2658981 RGD:2312438 NCBI chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076 		JBrowse link
G ACP1 acid phosphatase 1 onset ISO RGD PMID:11912546 PMID:15586390 RGD:2313182 RGD:2313186 NCBI chr14:107,449,327...107,465,478 JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO RGD PMID:21491159 RGD:6893642 NCBI chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:renal cortex (mouse)
protein:decreased expression:serum (human)
DNA:SNP, haplotype: :557G>A (p.G82S) (human)
DNA:SNP:promoter:-374T>A (human)		 RGD PMID:10553500 PMID:16969646 PMID:18420491 PMID:21738623 PMID:21870072 RGD:2325657 RGD:7243937 RGD:7244183 RGD:8695958 RGD:8695961 NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G AIF1 allograft inflammatory factor 1 onset ISO DNA:polymorphism:intron:rs2259571 (human) RGD PMID:9391121 PMID:18987644 RGD:2313043 RGD:2313199
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO RGD PMID:12706323 RGD:2311151 NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374 		JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr16:4,112,795...4,121,764
Ensembl chr16:4,111,151...4,121,645 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr16:63,435,494...63,442,790
Ensembl chr16:63,437,067...63,442,256 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G APOA2 apolipoprotein A2 ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr20:2,757,939...2,760,356
Ensembl chr20:2,759,237...2,760,686 		JBrowse link
G APOB apolipoprotein B ISO RGD PMID:1579407 PMID:19171731 RGD:2313972 RGD:2313980 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G APOC3 apolipoprotein C3 susceptibility ISO DNA:polymorphisms: :multiple RGD PMID:1579407 PMID:16505251 PMID:21670290 RGD:2306765 RGD:2313972 RGD:7207205 NCBI chr 1:108,196,283...108,199,274
Ensembl chr 1:108,196,939...108,199,342 		JBrowse link
G APOE apolipoprotein E ISO protein:decreased expression:urine (human) RGD PMID:22678621 RGD:6903197 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G APOH apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr16:55,209,142...55,231,176 JBrowse link
G APOM apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238
G AVP arginine vasopressin ISO RGD PMID:5692127 PMID:13995944 RGD:2314661 RGD:632128 NCBI chr 2:33,761,066...33,764,608
Ensembl chr 2:33,761,140...33,763,172 		JBrowse link
G B2M beta-2-microglobulin ISO RGD PMID:11572996 PMID:15446308 RGD:2311235 RGD:2311238 NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr13:14,681,323...15,049,690
Ensembl chr13:14,687,188...14,763,706 		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 7:49,910,851...50,205,524
Ensembl chr 7:49,911,393...50,204,476 		JBrowse link
G BCHE butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:plasma
protein:increased expression:serum:		 RGD PMID:9850345 PMID:21041817 RGD:7207232 RGD:7207419 NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812 		JBrowse link
G BMAL2 basic helix-loop-helix ARNT like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr11:27,067,523...27,141,740
Ensembl chr11:27,067,604...27,136,466 		JBrowse link
G BTC betacellulin susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr 7:23,283,269...23,333,373
Ensembl chr 7:23,281,862...23,308,287 		JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr19:19,883,376...19,892,321
Ensembl chr19:19,883,432...19,891,914 		JBrowse link
G C3 complement C3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CASP8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
G CASP9 caspase 9 ISO RGD PMID:14617576 PMID:17880769 RGD:2311245 RGD:2311322 NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CBL Cbl proto-oncogene ISO mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481 		JBrowse link
G CBLB Cbl proto-oncogene B susceptibility
no_association		 ISO DNA:nonsense mutation (rat)
DNA:SNPs: :multiple (human)
DNA:SNP:exon:rs3772534 (human)
DNA:missense mutations: :multiple (human)		 RGD PMID:12118252 PMID:14961073 PMID:15629882 PMID:17209142 PMID:18201552 RGD:2314037 RGD:2314039 RGD:2314040 RGD:2314041 RGD:625457 NCBI chr22:74,961,831...75,181,307
Ensembl chr22:74,961,859...75,178,548 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 ISO protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 onset ISO protein:increased expression:serum
mRNA:increased expression:pancreatic islet (mouse)		 RGD PMID:11317664 PMID:19092169 RGD:2306983 RGD:8549575 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CCR2 C-C motif chemokine receptor 2 no_association ISO DNA:polymorphism
DNA:polymorphism: :p.V64I (human)		 RGD PMID:10400139 PMID:12770795 RGD:2313562 RGD:2313564 NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO protein:decreased expression:blood, mononuclear cell
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
mRNA:increased expression:splenocyte (rat)		 RGD PMID:12145160 PMID:15240727 PMID:23773920 RGD:2317571 RGD:4890459 RGD:8551818 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CD14 CD14 molecule ISO protein:increased expression:monocyte RGD PMID:10831941 PMID:14614560 RGD:2314173 RGD:2314175 NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993 		JBrowse link
G CD28 CD28 molecule onset ISO DNA:polymorphism:intron (human)
protein:decreased expression:T cell		 RGD PMID:9410902 PMID:11685455 PMID:15504310 RGD:2307197 RGD:2307199 RGD:2307201 NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G CD38 CD38 molecule disease_progression ISO OMIM:222100 RGD
MouseDO		 PMID:12488956 PMID:16459468 PMID:16920929 RGD:2307229 RGD:2307230 RGD:2307231 NCBI chr27:34,375,859...34,449,131
Ensembl chr27:34,376,271...34,449,425 		JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:serum RGD PMID:12419284 PMID:15448088 PMID:16505242 PMID:16611325 PMID:26716812 RGD:11344963 RGD:2314212 RGD:2314220 RGD:5491182 RGD:8547798 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G CD69 CD69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr11:9,659,154...9,666,342
Ensembl chr11:9,659,029...9,665,914 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:19658094 RGD:5132624 NCBI chr22:61,258,281...61,294,772 JBrowse link
G CD86 CD86 molecule onset ISO protein:decreased expression:dendritic cells
human gene in mouse model
protein:decreased expression:macrophage,dendritic cell,T cell
protein:increased expression:dendritic cell		 RGD PMID:10679081 PMID:12742378 PMID:15356107 PMID:16232222 PMID:17947667 More... RGD:2313906 RGD:2313911 RGD:2313917 RGD:2313920 RGD:2313927 RGD:4892258 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G CDK4 cyclin dependent kinase 4 ISO OMIM:222100 RGD
MouseDO		 PMID:10319860 RGD:2314613 NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:18414213 PMID:25741868 NCBI chr12:5,053,817...5,077,487
Ensembl chr12:5,066,882...5,077,227 		JBrowse link
G CFB complement factor B ISO protein:increased expression:serum
DNA:polymorphism		 RGD PMID:3907907 PMID:19000152 RGD:2311335 RGD:2311338 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566 		JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr21:105,574,879...105,730,265
Ensembl chr21:105,726,175...105,727,575 		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		 RGD
CTD		 PMID:17632545 PMID:18946483 PMID:19221398 RGD:2313978 RGD:5491176 NCBI chr 5:10,420,866...10,658,370
Ensembl chr 5:10,420,931...10,658,507 		JBrowse link
G CRP C-reactive protein ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD
RGD		 PMID:20012460 PMID:22864910 RGD:6906966 RGD:8547537 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
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)		 RGD PMID:8817351 PMID:9259273 PMID:16671945 PMID:18443194 RGD:1300385 RGD:2301958 RGD:2301974 RGD:2301995 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		JBrowse link
G CTSB cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854 		JBrowse link
G CTSH cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr26:4,451,731...4,473,220
Ensembl chr26:4,451,774...4,472,855 		JBrowse link
G CTSL cathepsin L susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr12:98,347,770...98,353,426
Ensembl chr12:98,347,800...98,353,467 		JBrowse link
G CUNH12orf43 chromosome unknown C12orf43 homolog ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:25741868 NCBI chr11:116,358,991...116,373,616
Ensembl chr11:116,360,692...116,373,703 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:16148094 PMID:16339582 PMID:19046227 RGD:2311358 RGD:2311362 RGD:2311363 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		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:12383202 PMID:14522095 PMID:14679085 PMID:18793419 RGD:2301942 RGD:2306560 RGD:2306561 RGD:2306562 RGD:2306563 NCBI chr 9:40,005,580...40,020,513
Ensembl chr 9:40,011,439...40,020,494 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 susceptibility ISO DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)		 RGD PMID:17223345 PMID:17606874 RGD:2307311 RGD:2307312 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 susceptibility ISO DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) RGD PMID:17607662 RGD:2315692 NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr11:53,424,693...53,429,094
Ensembl chr11:53,424,868...53,425,576 		JBrowse link
G DDX39B DExD-box helicase 39B ISO RGD PMID:11756005 RGD:13702905 NCBI chr17:40,445,258...40,457,379
Ensembl chr17:40,447,061...40,456,826 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO RGD PMID:26363782 RGD:11532657 NCBI chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164 		JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO RGD PMID:19073764 RGD:2313702 NCBI chr10:47,396,605...47,481,478
Ensembl chr10:47,394,093...47,480,893 		JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:7485483 RGD:2298693 NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532 		JBrowse link
G E2F1 E2F transcription factor 1 ISO E2f1/E2f2 double knockout
OMIM:222100		 RGD
MouseDO		 PMID:15146237 RGD:1300306 NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326 		JBrowse link
G E2F2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr20:109,146,567...109,171,540
Ensembl chr20:109,146,587...109,168,093 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198 		JBrowse link
G EGFR epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr14:18,135,973...18,209,471
Ensembl chr14:18,136,291...18,209,457 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO DNA:polymorphism (human) RGD PMID:1686010 PMID:1982251 RGD:2313850 RGD:2313901 NCBI chr 1:119,588,476...119,736,623
Ensembl chr 1:119,588,448...119,652,299 		JBrowse link
G F7 coagulation factor VII ISO associated with Kidney Failure; protein:increased expression:plasma (human)
protein:increased activity, expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)		 RGD PMID:9686915 PMID:11146704 PMID:11297753 PMID:15860378 RGD:2312383 RGD:2312384 RGD:2312385 RGD:2312389 NCBI chr 3:91,109,864...91,122,707
Ensembl chr 3:91,110,380...91,123,327 		JBrowse link
G FADS2 fatty acid desaturase 2 treatment ISO associated with hypertension RGD PMID:15589689 RGD:401901188 NCBI chr 1:11,934,352...11,978,355
Ensembl chr 1:11,934,270...11,974,030 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:lymphocyte
OMIM:222100
mRNA:decreased expression:lymphocyte		 RGD
MouseDO		 PMID:16180659 PMID:17324464 PMID:19120316 RGD:2315742 RGD:2315748 RGD:2315751 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G FGF21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr 6:42,006,125...42,008,749
Ensembl chr 6:42,006,064...42,008,736 		JBrowse link
G FOXO1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707 		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		 RGD
ClinVar		 PMID:11137992 PMID:25741868 RGD:1598959 NCBI chr  X:46,349,890...46,365,133 JBrowse link
G FUCA1 alpha-L-fucosidase 1 ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949
G G6PC2 glucose-6-phosphatase catalytic subunit 2 ISO OMIM:222100 MouseDO NCBI chr10:54,433,329...54,442,623 JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G GAD2 glutamate decarboxylase 2 onset
susceptibility		 ISO OMIM:222100 RGD
MouseDO		 PMID:18005036 PMID:19085183 PMID:19188044 PMID:19741189 RGD:2313289 RGD:2313292 RGD:2313294 RGD:2313296 NCBI chr 9:25,906,047...25,993,715
Ensembl chr 9:25,906,103...25,995,489 		JBrowse link
G GAL galanin and GMAP prepropeptide ISO protein:increased expression:plasma
mRNA, protein:increased expression:celiac ganglion		 RGD PMID:16060906 PMID:16487586 RGD:1624331 RGD:2313736 NCBI chr 1:5,849,947...5,857,355
Ensembl chr 1:5,849,952...5,857,072 		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 chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		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 chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G GC GC vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G GHR growth hormone receptor ISO mRNA, protein:decreased expression:kidney, liver RGD PMID:11469393 PMID:12054124 RGD:2307366 RGD:2307367 NCBI chr 4:41,171,038...41,464,474
Ensembl chr 4:41,285,712...41,464,666 		JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr12:75,244,685...75,726,554 JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr23:53,576,950...53,585,321 JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742 		JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr23:44,246,296...44,263,127 JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Type I diabetes mellitus
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		 OMIM
ClinVar		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11916625 PMID:16616286 RGD:2308923 RGD:2308924 NCBI chr 5:60,017,967...60,040,959
Ensembl chr 5:60,019,434...60,025,353 		JBrowse link
G IAPP islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417 PMID:19190104 RGD:2313356 RGD:2313357 NCBI chr11:21,240,947...21,247,409
Ensembl chr11:21,241,514...21,247,207 		JBrowse link
G ICA1 islet cell autoantigen 1 onset ISO mRNA, protein:decreased expression:thymus gland RGD PMID:8647206 PMID:11751995 PMID:14679103 RGD:2311486 RGD:2311487 RGD:2311488 NCBI chr21:49,938,697...50,094,024
Ensembl chr21:49,938,503...50,093,874 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility ISO DNA:polymorphism
protein:increased expression:plasma		 RGD PMID:16978373 PMID:19373518 RGD:1625758 RGD:2313468 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IFNG interferon gamma ISO OMIM:222100
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:8977415 PMID:18644830 PMID:21340626 RGD:10755748 RGD:2311493 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IFNGR2 interferon gamma receptor 2 ISO OMIM:222100 MouseDO NCBI chr 2:58,743,365...58,779,922
Ensembl chr 2:58,743,922...58,779,356 		JBrowse link
G IGF1 insulin like growth factor 1 severity ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:15356074 PMID:16887362 PMID:19156625 PMID:24632065 RGD:2306688 RGD:2313765 RGD:2313769 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G IGF2 insulin like growth factor 2 ISO mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 severity ISO RGD PMID:15356074 PMID:16887362 RGD:2313765 RGD:2313769 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:17997340 PMID:19430480 RGD:2308949 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919 PMID:17670937 RGD:2313574 RGD:2313577 NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499 		JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:small intestine mucosa
mRNA:increased expression:pancreatic islet, leukocyte		 RGD PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531 RGD:2311064 RGD:2311065 RGD:2311067 RGD:2311075 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:peripheral blood, leukocyte (human) RGD PMID:1797022 PMID:21848584 RGD:7175335 RGD:7401233 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO DNA:SNP (human)
OMIM:222100
DNA:polymorphism
protein:decreased expression:pancreatic islet		 RGD
MouseDO		 PMID:7835294 PMID:8911996 PMID:11197691 RGD:2311068 RGD:2311106 RGD:6892703 NCBI chr14:5,781,486...5,852,872
Ensembl chr14:5,781,479...5,855,942 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein
protein:increased expression:serum (human)		 RGD PMID:9112337 PMID:9158104 RGD:6907403 RGD:6907407 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL2 interleukin 2 onset ISO RGD PMID:3514237 PMID:17670937 RGD:10047089 RGD:2313574 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969 		JBrowse link
G IL20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr25:22,486,860...22,494,210
Ensembl chr25:22,488,338...22,491,129 		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 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025 		JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 NCBI chr 5:25,105,947...25,153,914
Ensembl chr 5:25,106,519...25,153,703 		JBrowse link
G IL27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha onset ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17676041 PMID:19106270 PMID:19119414 PMID:19701192 PMID:30224649 RGD:2311527 RGD:2311528 NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta ameliorates ISO RGD PMID:29367461 RGD:42733039 NCBI chr19:19,830,919...19,853,534
Ensembl chr19:19,828,898...19,852,988 		JBrowse link
G IL4 interleukin 4 ISO OMIM:222100 MouseDO NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258 		JBrowse link
G IL6 interleukin 6 susceptibility ISO ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to ClinVar
OMIM		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G INS insulin treatment
susceptibility		 ISO human protein in a mouse model
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
associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
human gene in a mouse model		 RGD
ClinVar		 PMID:11921414 PMID:16113600 PMID:16382177 PMID:17284779 PMID:17855560 More... RGD:150340605 RGD:150340606 RGD:150340608 RGD:150340612 RGD:150340615 RGD:150340616 NCBI chr 1:1,965,128...1,969,090 JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO OMIM:222100 MouseDO NCBI chr11:61,868,817...61,920,896
Ensembl chr11:61,869,173...61,920,406 		JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr10:66,984,687...67,063,158
Ensembl chr10:66,984,887...67,061,636 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr17:38,381,862...38,456,505
Ensembl chr17:38,381,743...38,456,499 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 More... NCBI chr 1:47,582,519...47,586,466
Ensembl chr 1:47,583,629...47,584,801 		JBrowse link
G LGALS3 galectin 3 ISO RGD PMID:16600178 RGD:9685204 NCBI chr24:32,311,343...32,328,335
Ensembl chr24:32,311,271...32,328,339 		JBrowse link
G LIPC lipase C, hepatic type ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921 		JBrowse link
G LOC103223491 peroxisome proliferator-activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 NCBI chr19:28,614,892...28,709,272
Ensembl chr19:28,615,413...28,708,763 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 onset ISO RGD PMID:16390810 RGD:2306629 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103233562 mucosal addressin cell adhesion molecule 1 ISO RGD PMID:9313747 PMID:17827401 RGD:2311544 RGD:2311545 NCBI chr 6:222,795...235,198 JBrowse link
G LTA lymphotoxin alpha treatment
susceptibility
onset		 ISO DNA:SNP (human)
DNA:polymorphism: :252A>G (human)
protein:decreased expression:mononuclear cell
DNA:polymorphism: :249A>G (human)		 RGD PMID:8242903 PMID:9342542 PMID:11141334 PMID:12622777 PMID:17989340 More... RGD:2313253 RGD:2313257 RGD:2313262 RGD:2313263 RGD:2313264 RGD:8548842
G MBD2 methyl-CpG binding domain protein 2 ISO OMIM:222100 MouseDO NCBI chr18:26,714,610...26,785,028 JBrowse link
G MBL2 mannose binding lectin 2 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079 		JBrowse link
G MHC-DPA1 major histocompatibility complex, class II, DP alpha 1 ISO RGD PMID:7576003 RGD:6480651 NCBI chr17:39,009,361...39,017,978 JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 ISO RGD PMID:7576003 RGD:6480651 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 onset
susceptibility		 ISO DNA:polymorphisms: :multiple
DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12021143 PMID:16731854 PMID:17728790 PMID:18769865 PMID:26168013 RGD:2301811 RGD:2301812 RGD:2301817 RGD:5147626 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
G MHC-DRA major histocompatibility complex, class II, DR alpha ISO RGD PMID:11812739 RGD:5490164 NCBI chr17:39,623,324...39,628,464
Ensembl chr17:39,622,402...39,629,261 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr 1:104,332,622...104,647,258 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:2313481 RGD:2313483 RGD:2313487 NCBI chr10:67,203,714...67,208,644
Ensembl chr10:67,205,141...67,206,211 		JBrowse link
G NOG noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr11:112,642,374...112,673,882 JBrowse link
G NOS2 nitric oxide synthase 2 ISO OMIM:222100 RGD
MouseDO		 PMID:19535454 RGD:2313214 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr21:119,174,829...119,196,840 JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		JBrowse link
G PAX4 paired box 4 susceptibility ISO DNA:polymorphism: :p.R133W (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15509590 PMID:15834548 RGD:2311633 RGD:2311634 NCBI chr21:96,425,496...96,435,846
Ensembl chr21:96,425,656...96,429,874 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 4:90,246,413...90,289,148
Ensembl chr 4:90,248,598...90,289,089 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO OMIM:222100 RGD
MouseDO		 PMID:17383157 RGD:2311310 NCBI chr 3:7,038,088...7,046,593
Ensembl chr 3:7,041,466...7,045,976 		JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:14652638 RGD:2311676 NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G PPBP pro-platelet basic protein ISO RGD PMID:14730686 RGD:1625598 NCBI chr 7:22,470,670...22,471,841
Ensembl chr 7:22,470,573...22,471,809 		JBrowse link
G PRF1 perforin 1 ISO OMIM:222100 MouseDO NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465 		JBrowse link
G PRKCQ protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 9:6,532,438...6,675,708
Ensembl chr 9:6,532,319...6,621,487 		JBrowse link
G PRRC2A proline rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:10987645 PMID:15842729 RGD:2306963 RGD:2306964
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842 		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 chr 9:22,944,122...22,965,905
Ensembl chr 9:22,964,164...22,965,565 		JBrowse link
G PTH parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 1:51,327,555...51,330,810 JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 onset
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA: snp: cds: C1858T 		RGD
CTD
OMIM		 PMID:15004560 PMID:21190368 PMID:21873553 PMID:30224649 RGD:6484524 RGD:6484692 NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO RGD PMID:7568143 PMID:19741189 RGD:2313289 RGD:729710 NCBI chr10:105,196,508...105,216,665
Ensembl chr10:105,196,505...105,216,525 		JBrowse link
G PTPRN2 protein tyrosine phosphatase receptor type N2 ISO OMIM:222100 RGD
MouseDO		 PMID:12419281 PMID:18193190 RGD:2311682 RGD:2311684 NCBI chr21:125,655,787...126,622,503 JBrowse link
G RAN RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr11:126,257,849...126,263,481 JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO mRNA:splice variant: heart (mouse) RGD PMID:27239029 RGD:329845874 NCBI chr19:18,507,184...18,801,535 JBrowse link
G RETN resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505 		JBrowse link
G SELE selectin E ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr25:59,305,610...59,333,789
Ensembl chr25:59,322,913...59,330,668 		JBrowse link
G SELL selectin L ISO OMIM:222100 MouseDO NCBI chr25:59,345,080...59,365,684
Ensembl chr25:59,345,069...59,366,946 		JBrowse link
G SENP1 SUMO specific peptidase 1 ISO OMIM:222100 MouseDO NCBI chr11:44,272,371...44,334,787 JBrowse link
G SERPINA7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:93,895,103...93,899,718
Ensembl chr  X:93,894,788...93,898,738 		JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr16:1,408,453...1,424,197 JBrowse link
G SH2B3 SH2B adaptor protein 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon: (rs3184504) (human)
DNA:SNP: : (rs3184504) (human)		 CTD
RGD		 PMID:21829393 PMID:21873553 PMID:30224649 RGD:153297780 RGD:6484692 NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:repeat:promoter (human)
DNA:SNP:intron:rs3731865 (human)
DNA:polymorphism: :274C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15877293 PMID:16550170 PMID:16597321 PMID:19768110 PMID:21524304 RGD:5684926 RGD:5684932 RGD:5684950 RGD:5684955 NCBI chr10:104,276,553...104,288,466 JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:pancreas (human) RGD PMID:16710474 PMID:19223416 RGD:2317333 RGD:5131199 NCBI chr 9:110,039,783...110,078,822
Ensembl chr 9:110,040,391...110,076,647 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr 9:59,927,957...59,979,570
Ensembl chr 9:59,927,964...59,975,174 		JBrowse link
G SOD1 superoxide dismutase 1 ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SOD2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr19:24,364,725...24,439,851
Ensembl chr19:24,364,911...24,440,014 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO OMIM:222100 MouseDO NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:polymorphisms (human)
DNA:mutation:promoter (mouse)
DNA:insertion:intron (human)		 RGD PMID:9129974 PMID:9300732 PMID:9458110 RGD:2312369 RGD:2312370 RGD:2312371 NCBI chr17:39,252,000...39,260,195 JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:1300236 PMID:17192492 RGD:2312368 RGD:2312373 NCBI chr17:39,266,870...39,277,658 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 chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497 		JBrowse link
G TF transferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		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 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		JBrowse link
G THBD thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471 		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:15699513 PMID:17130564 PMID:17707128 PMID:18029454 PMID:19148143 RGD:2312679 RGD:2312683 RGD:2312684 RGD:2312686 RGD:2312687 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TLR3 toll like receptor 3 ISO DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) RGD PMID:16029432 RGD:5129476 NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232 		JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:monocyte RGD PMID:16728431 PMID:18029454 RGD:2312492 RGD:2312683 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19120272 PMID:23640034 RGD:2313253
G TNFSF10 TNF superfamily member 10 ISO RGD PMID:12882912 PMID:18057577 RGD:2312740 RGD:2312743 NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860 		JBrowse link
G TNFSF4 TNF superfamily member 4 ISO OMIM:222100 MouseDO NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374 		JBrowse link
G TYK2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Virus-induced diabetes ClinVar PMID:26288847 NCBI chr 6:9,399,945...9,420,054
Ensembl chr 6:9,399,775...9,417,630 		JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 6:6,337,255...6,415,851 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 chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862 		JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278 		JBrowse link
G VWF von Willebrand factor ISO RGD PMID:10729383 RGD:13673887 NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260 		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:10679252 PMID:15008830 PMID:15056606 RGD:8694393 RGD:8694396 RGD:8694402 NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 5:16,197,982...16,566,893 JBrowse link
G YY1 YY1 transcription factor treatment ISO DNA:SNPs:intron RGD PMID:15234341 PMID:15619288 RGD:9588271 RGD:9588274 NCBI chr24:78,199,172...78,243,081
Ensembl chr24:78,199,039...78,237,165 		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 chr21:18,551,273...18,688,889
Ensembl chr21:18,553,446...18,688,525 		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 OMIM
ClinVar		 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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:47,046,209...47,056,961
Ensembl chr  X:47,046,240...47,056,319 		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:47,713,434...47,722,818
Ensembl chr  X:47,713,957...47,719,777 		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:46,304,831...46,330,562 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:46,161,238...46,178,128
Ensembl chr  X:46,170,651...46,177,244 		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:46,330,215...46,349,978
Ensembl chr  X:46,335,095...46,353,583 		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:47,059,747...47,142,911
Ensembl chr  X:47,085,605...47,142,788 		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:44,405,672...44,416,478
Ensembl chr  X:44,410,598...44,416,818 		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:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861 		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:47,156,308...47,265,027
Ensembl chr  X:47,156,317...47,264,824 		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 chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164 		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:45,652,398...45,660,551
Ensembl chr  X:45,653,356...45,660,291 		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
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:45,955,444...45,957,170
Ensembl chr  X:45,955,803...45,956,504 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome OMIM
ClinVar		 PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More... NCBI chr  X:46,349,890...46,365,133 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:45,606,922...45,617,172
Ensembl chr  X:45,606,948...45,617,212 		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:45,912,638...45,920,415
Ensembl chr  X:45,917,231...45,920,268 		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:45,888,220...45,900,316
Ensembl chr  X:45,888,509...45,900,095 		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:46,212,415...46,227,315
Ensembl chr  X:46,209,373...46,227,250 		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:46,093,225...46,120,097
Ensembl chr  X:46,091,584...46,120,097 		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:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929 		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:44,119,480...44,266,268
Ensembl chr  X:44,192,385...44,266,329 		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:46,080,116...46,092,125
Ensembl chr  X:46,081,711...46,089,762 		JBrowse link
G LOC103231893 synapsin-1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,748,994...44,797,053
Ensembl chr  X:44,750,046...44,797,009 		JBrowse link
G LOC103231895 serine/threonine-protein kinase A-Raf ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,738,406...44,748,996
Ensembl chr  X:44,740,181...44,748,550 		JBrowse link
G LOC103231897 properdin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,801,388...44,807,177
Ensembl chr  X:44,801,354...44,807,402 		JBrowse link
G LOC103231905 sperm acrosome-associated protein 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:45,170,226...45,175,615 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:46,260,076...46,264,187
Ensembl chr  X:46,260,137...46,263,687 		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:44,336,626...44,339,635
Ensembl chr  X:44,336,285...44,340,109 		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:46,041,348...46,077,195 JBrowse link
G PAGE1 PAGE 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:46,521,148...46,527,310
Ensembl chr  X:46,521,157...46,527,310 		JBrowse link
G PAGE4 PAGE 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:46,595,642...46,680,133
Ensembl chr  X:46,676,607...46,678,837 		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:45,957,760...45,962,588
Ensembl chr  X:45,957,715...45,962,601 		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:46,032,640...46,040,220 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:46,267,194...46,270,538 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:45,639,836...45,652,301
Ensembl chr  X:45,640,125...45,651,974 		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:46,369,087...46,387,335
Ensembl chr  X:46,369,190...46,387,401 		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:46,014,664...46,020,204
Ensembl chr  X:46,015,250...46,023,988 		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:46,179,842...46,182,769
Ensembl chr  X:46,179,835...46,183,552 		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:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689 		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:44,339,653...44,373,509
Ensembl chr  X:44,339,877...44,373,339 		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:45,702,974...45,707,064
Ensembl chr  X:45,702,275...45,707,075 		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:44,282,825...44,299,027
Ensembl chr  X:44,285,601...44,299,258 		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:44,048,319...44,090,011
Ensembl chr  X:44,048,317...44,089,988 		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:47,392,156...47,618,816
Ensembl chr  X:47,397,570...47,616,973 		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:46,020,241...46,030,205
Ensembl chr  X:46,017,681...46,030,200 		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:45,588,992...45,598,771 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:43,806,085...43,958,985
Ensembl chr  X:43,806,349...43,958,959 		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:45,820,114...45,834,727
Ensembl chr  X:45,822,453...45,834,917 		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:46,287,610...46,299,926
Ensembl chr  X:46,287,282...46,299,773 		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:45,671,217...45,691,307 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:46,141,377...46,155,445
Ensembl chr  X:46,140,543...46,155,372 		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:46,010,164...46,014,616
Ensembl chr  X:46,010,446...46,014,510 		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
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:44,377,765...44,402,378
Ensembl chr  X:44,385,940...44,405,051 		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:44,420,305...44,438,564
Ensembl chr  X:44,419,831...44,438,616 		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:46,718,329...46,728,205 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:44,828,836...44,836,433
Ensembl chr  X:44,828,841...44,835,985 		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:45,809,418...45,817,165
Ensembl chr  X:45,809,189...45,817,667 		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:45,721,318...45,729,152
Ensembl chr  X:45,721,406...45,733,103 		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:46,183,278...46,188,564
Ensembl chr  X:46,183,443...46,188,536 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,541,118...44,590,740 JBrowse link
G ZNF182 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:45,138,483...45,185,295
Ensembl chr  X:45,139,806...45,152,280 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,623,464...44,663,024 JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:45,226,036...45,240,095
Ensembl chr  X:45,226,339...45,229,653 		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:45,001,296...45,089,891 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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr13:22,234,736...22,312,985
Ensembl chr13:22,234,012...22,282,562 		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 5:27,438,975...27,444,922 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 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532 NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447 		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 susceptibility ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 ClinVar
OMIM		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		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 chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		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 ISO OMIM:125852 MouseDO NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... NCBI chr 1:1,965,128...1,969,090 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 chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921 		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 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		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 OMIM
ClinVar		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751 		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 ClinVar
OMIM		 PMID:25741868 NCBI chr22:7,803,794...7,818,112 JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr13:22,234,736...22,312,985
Ensembl chr13:22,234,012...22,282,562 		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 ISO OMIM:600321 MouseDO NCBI chr10:67,203,714...67,208,644
Ensembl chr10:67,205,141...67,206,211 		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 ClinVar Annotator: match by term: Wolcott-Rallison dysplasia OMIM
ClinVar		 PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID:16199547 More... NCBI chr14:18,135,973...18,209,471
Ensembl chr14:18,136,291...18,209,457 		JBrowse link
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: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM
ClinVar		 PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr 7:50,968,061...50,988,725
Ensembl chr 7:50,968,111...50,988,714 		JBrowse link
G CISD3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr16:67,462,038...67,465,843
Ensembl chr16:67,458,472...67,465,572 		JBrowse link
G PCGF2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr16:67,447,181...67,461,829
Ensembl chr16:67,455,292...67,460,509 		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 PMID:25741868 PMID:28492532 NCBI chr 7:51,011,569...51,125,675 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15342
    disease of anatomical entity 15027
      endocrine system disease 5948
        diabetes mellitus 1329
          type 1 diabetes mellitus 281
            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 + 6
            fulminant type 1 diabetes 0
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 65
            latent autoimmune diabetes in adults 2
            type 1 diabetes mellitus 10 1
            type 1 diabetes mellitus 11 0
            type 1 diabetes mellitus 12 1
            type 1 diabetes mellitus 13 0
            type 1 diabetes mellitus 15 0
            type 1 diabetes mellitus 17 1
            type 1 diabetes mellitus 18 0
            type 1 diabetes mellitus 19 0
            type 1 diabetes mellitus 2 4
            type 1 diabetes mellitus 20 1
            type 1 diabetes mellitus 21 0
            type 1 diabetes mellitus 22 1
            type 1 diabetes mellitus 23 0
            type 1 diabetes mellitus 24 0
            type 1 diabetes mellitus 3 0
            type 1 diabetes mellitus 4 0
            type 1 diabetes mellitus 5 1
            type 1 diabetes mellitus 6 0
            type 1 diabetes mellitus 7 1
            type 1 diabetes mellitus 8 0
Path 2
Term Annotations click to browse term
  disease 15342
    Developmental Disease 13376
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12500
        genetic disease 12198
          inherited metabolic disorder 5829
            carbohydrate metabolic disorder 2795
              glucose metabolism disease 1556
                diabetes mellitus 1329
                  type 1 diabetes mellitus 281
                    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 + 6
                    fulminant type 1 diabetes 0
                    immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 65
                    latent autoimmune diabetes in adults 2
                    type 1 diabetes mellitus 10 1
                    type 1 diabetes mellitus 11 0
                    type 1 diabetes mellitus 12 1
                    type 1 diabetes mellitus 13 0
                    type 1 diabetes mellitus 15 0
                    type 1 diabetes mellitus 17 1
                    type 1 diabetes mellitus 18 0
                    type 1 diabetes mellitus 19 0
                    type 1 diabetes mellitus 2 4
                    type 1 diabetes mellitus 20 1
                    type 1 diabetes mellitus 21 0
                    type 1 diabetes mellitus 22 1
                    type 1 diabetes mellitus 23 0
                    type 1 diabetes mellitus 24 0
                    type 1 diabetes mellitus 3 0
                    type 1 diabetes mellitus 4 0
                    type 1 diabetes mellitus 5 1
                    type 1 diabetes mellitus 6 0
                    type 1 diabetes mellitus 7 1
                    type 1 diabetes mellitus 8 0
paths to the root