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RGD DISEASE ONTOLOGY - ANNOTATIONS

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


show annotations for term's descendants           Sort by:
type 1 diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18025464 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACE angiotensin I converting enzyme disease progression IEP
IAGP		 protein:increased activity:serum (human)
DNA:deletion:intron:IVS16+1464-1751del (human)		 RGD PMID:1336356 PMID:9025006 RGD:7829770, RGD:7829799 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) IEP RGD PMID:2658981 RGD:2312438 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974 		JBrowse link
G ACP1 acid phosphatase 1 onset IAGP RGD PMID:15586390 PMID:11912546 RGD:2313182, RGD:2313186 NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP RGD PMID:19640330 RGD:2313235 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO RGD PMID:21491159 RGD:6893642 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO
IEP
IAGP		 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 chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AIF1 allograft inflammatory factor 1 onset ISO
IAGP		 DNA:polymorphism:intron:rs2259571 (human) RGD PMID:9391121 PMID:18987644 RGD:2313043, RGD:2313199 NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member IAGP RGD PMID:12706323 RGD:2311151 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532 		JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294 		JBrowse link
G AOC3 amine oxidase copper containing 3 IEP protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130 		JBrowse link
G APOA1 apolipoprotein A1 IEP protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA2 apolipoprotein A2 IEP protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631 		JBrowse link
G APOB apolipoprotein B IEP RGD PMID:19171731 PMID:1579407 RGD:2313980, RGD:2313972 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOC3 apolipoprotein C3 susceptibility IEP
IAGP
ISO		 DNA:polymorphisms: :multiple RGD PMID:1579407 PMID:16505251 PMID:21670290 RGD:2313972, RGD:2306765, RGD:7207205 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G APOE apolipoprotein E IEA
IEP		 protein:decreased expression:urine (human) GAD
RGD		 PMID:15118671 PMID:22678621 RGD:1331525, RGD:6903197 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APOH apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525 		JBrowse link
G APOM apolipoprotein M susceptibility IAGP DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr 6:31,652,404...31,658,210
Ensembl chr 6:31,652,416...31,658,210 		JBrowse link
G AVP arginine vasopressin ISO RGD PMID:5692127 PMID:13995944 RGD:632128, RGD:2314661 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
G B2M beta-2-microglobulin ISO RGD PMID:11572996 PMID:15446308 RGD:2311238, RGD:2311235 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility IAGP DNA:SNP: :rs3733197(human) RGD PMID:24342660 RGD:9684973 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G BCHE butyrylcholinesterase onset IAGP DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP protein:decreased expression:plasma
protein:increased expression:serum:		 RGD PMID:21041817 PMID:9850345 RGD:7207232, RGD:7207419 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BMAL2 basic helix-loop-helix ARNT like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr12:27,332,836...27,425,286
Ensembl chr12:27,332,836...27,425,289 		JBrowse link
G BTC betacellulin susceptibility IAGP DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr 4:74,744,759...74,794,523
Ensembl chr 4:74,744,759...74,794,523 		JBrowse link
G C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:25741868 NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502 		JBrowse link
G C1QTNF6 C1q and TNF related 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr22:37,180,166...37,199,423
Ensembl chr22:37,180,166...37,199,385 		JBrowse link
G C3 complement C3 IEP RGD PMID:3253105 RGD:2314031 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CASP12 caspase 12 (gene/pseudogene) ISO
EXP		 protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23499715 PMID:15855338 RGD:2311451 NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670 		JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CASP8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CASP9 caspase 9 ISO
IEP		 RGD PMID:14617576 PMID:17880769 RGD:2311322, RGD:2311245 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534 		JBrowse link
G CAT catalase EXP CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CBL Cbl proto-oncogene ISO mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CBLB Cbl proto-oncogene B susceptibility
no_association		 ISO
IAGP		 DNA:nonsense mutation (rat)
DNA:SNP:exon:rs3772534 (human)
DNA:missense mutations: :multiple (human)
DNA:SNPs: :multiple (human)		 RGD PMID:12118252 PMID:15629882 PMID:17209142 PMID:18201552 PMID:14961073 More... RGD:625457, RGD:2314040, RGD:2314039, RGD:2314037, RGD:2314041, RGD:625457 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 ISO protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 onset IEP
ISO		 protein:increased expression:serum
mRNA:increased expression:pancreatic islet (mouse)		 RGD PMID:19092169 PMID:11317664 RGD:2306983, RGD:8549575 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 EXP CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility IAGP DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 no_association IAGP DNA:polymorphism: :p.V64I (human) RGD PMID:10400139 PMID:12770795 RGD:2313564, RGD:2313562 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO
IEP
IAGP		 mRNA:increased expression:splenocyte (rat)
protein:decreased expression:blood, mononuclear cell
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)		 RGD PMID:15240727 PMID:12145160 PMID:23773920 RGD:4890459, RGD:2317571, RGD:8551818 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD14 CD14 molecule IEP
ISO		 protein:increased expression:monocyte RGD PMID:10831941 PMID:14614560 RGD:2314175, RGD:2314173 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700 		JBrowse link
G CD28 CD28 molecule onset ISO
IAGP
IEP		 DNA:polymorphism:intron (human)
protein:decreased expression:T cell		 RGD PMID:9410902 PMID:11685455 PMID:15504310 RGD:2307201, RGD:2307199, RGD:2307197 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912 		JBrowse link
G CD36 CD36 molecule ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD38 CD38 molecule disease_progression ISO
IDA
ISS		 OMIM:222100 MouseDO
RGD		 PMID:16920929 PMID:12488956 PMID:16459468 RGD:2307229, RGD:2307231, RGD:2307230 NCBI chr 4:15,778,328...15,853,232
Ensembl chr 4:15,778,275...15,853,232 		JBrowse link
G CD40 CD40 molecule IEP protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand treatment IEP
ISO		 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:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD69 CD69 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr12:9,752,486...9,760,901
Ensembl chr12:9,752,486...9,760,901 		JBrowse link
G CD80 CD80 molecule IMP RGD PMID:19658094 RGD:5132624 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614 		JBrowse link
G CD86 CD86 molecule onset IMP
ISO
IEP		 human gene in mouse model
protein:decreased expression:macrophage,dendritic cell,T cell
protein:decreased expression:dendritic cell
protein:decreased expression:dendritic cells
protein:increased expression:dendritic cell		 RGD PMID:17947667 PMID:10679081 PMID:15356107 PMID:16232222 PMID:18316361 More... RGD:4892258, RGD:2313927, RGD:2313917, RGD:2313911, RGD:2313906, RGD:2313920 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CDK4 cyclin dependent kinase 4 ISO
ISS		 OMIM:222100 MouseDO
RGD		 PMID:10319860 RGD:2314613 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G CEL carboxyl ester lipase IEP
IDA
IAGP		 protein:increased activity:serum
ClinVar Annotator: match by term: Diabetes mellitus type 1		 ClinVar
RGD		 PMID:18414213 PMID:25741868 PMID:9536927 PMID:10580419 RGD:2313969, RGD:2313967 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CFB complement factor B IEP
IAGP		 protein:increased expression:serum
DNA:polymorphism		 RGD PMID:3907907 PMID:19000152 RGD:2311338, RGD:2311335 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr 7:136,868,652...137,020,213
Ensembl chr 7:136,868,652...137,020,255 		JBrowse link
G CLEC16A C-type lectin domain containing 16A IAGP
EXP		 DNA:polymorphism:intron:rs725613 (human)
DNA:polymorphism:intron:rs2903692A
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17632545 PMID:18946483 PMID:18946483 PMID:19221398 RGD:2313978, RGD:5491176 NCBI chr16:10,944,564...11,182,186
Ensembl chr16:10,944,539...11,182,186 		JBrowse link
G CP ceruloplasmin IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20012460 PMID:17603912 RGD:2314682 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CRP C-reactive protein IEP
EXP		 protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20012460 PMID:22864910 PMID:20012460 RGD:6906966, RGD:8547537 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP 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)
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
DNA:SNP:promoter:-1661A>G (human)		 RGD PMID:8817351 PMID:18443194 PMID:16671945 PMID:9259273 RGD:2301958, RGD:2301974, RGD:2301995, RGD:1300385 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTSB cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533 		JBrowse link
G CTSH cathepsin H EXP CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574 		JBrowse link
G CTSL cathepsin L susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO
IEP		 protein:increased expression:serum RGD PMID:16148094 PMID:16339582 PMID:19046227 RGD:2311363, RGD:2311362, RGD:2311358 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 onset
no_association		 ISO
IAGP		 mRNA:increased expression:bone marrow
DNA:polymorphism:3' utr (human)		 RGD PMID:18793419 PMID:12383202 PMID:11334429 PMID:14679085 PMID:14522095 RGD:2301942, RGD:2306562, RGD:2306563, RGD:2306561, RGD:2306560 NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 susceptibility IAGP DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)		 RGD PMID:17606874 PMID:17223345 RGD:2307311, RGD:2307312 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IEP mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 susceptibility IAGP DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) RGD PMID:17607662 RGD:2315692 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737 		JBrowse link
G DDX39B DExD-box helicase 39B IAGP RGD PMID:11756005 RGD:13702905 NCBI chr 6:31,530,226...31,542,003
Ensembl chr 6:31,530,219...31,542,448 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IEP mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO RGD PMID:26363782 RGD:11532657 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO RGD PMID:19073764 RGD:2313702 NCBI chr 2:161,992,245...162,074,215
Ensembl chr 2:161,992,245...162,074,394 		JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:7485483 RGD:2298693 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G E2F1 E2F transcription factor 1 ISO
ISS		 E2f1/E2f2 double knockout
OMIM:222100		 MouseDO
RGD		 PMID:15146237 RGD:1300306 NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385 		JBrowse link
G E2F2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 1:23,505,212...23,531,233
Ensembl chr 1:23,506,438...23,531,233 		JBrowse link
G EDN1 endothelin 1 IEP protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EGFR epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP DNA:polymorphism (human) RGD PMID:1982251 PMID:1686010 RGD:2313850, RGD:2313901 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G F7 coagulation factor VII IDA
IEP
IAGP		 associated with Kidney Failure; protein:increased expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)
protein:increased activity, expression:plasma (human)		 RGD PMID:11146704 PMID:15860378 PMID:9686915 PMID:11297753 RGD:2312385, RGD:2312383, RGD:2312389, RGD:2312384 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G FAS Fas cell surface death receptor ISO
IEP		 protein:increased expression:insulin-secreting cells RGD PMID:9254659 PMID:19120316 RGD:2315754, RGD:2315742 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IEP
ISO
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 chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCGR2A Fc gamma receptor IIa ISO RGD PMID:17617565 RGD:5508453 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FGF21 fibroblast growth factor 21 EXP CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333 		JBrowse link
G FOXO1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641 		JBrowse link
G FOXP3 forkhead box P3 susceptibility IAGP 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:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IEP protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G G6PC2 glucose-6-phosphatase catalytic subunit 2 ISS OMIM:222100 MouseDO NCBI chr 2:168,901,291...168,910,000
Ensembl chr 2:168,901,291...168,910,000 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IEP protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GAD2 glutamate decarboxylase 2 susceptibility
onset		 IDA
ISO
ISS		 OMIM:222100 MouseDO
RGD		 PMID:19741189 PMID:18005036 PMID:19188044 PMID:19085183 RGD:2313289, RGD:2313296, RGD:2313292, RGD:2313294 NCBI chr10:26,216,372...26,304,558
Ensembl chr10:26,216,665...26,304,558 		JBrowse link
G GAL galanin and GMAP prepropeptide ISO
IEP		 mRNA, protein:increased expression:celiac ganglion
protein:increased expression:plasma		 RGD PMID:16487586 PMID:16060906 RGD:1624331, RGD:2313736 NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 More... NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GC GC vitamin D binding protein IAGP DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GH1 growth hormone 1 IEP
IDA
ISO		 protein:increased expression:serum RGD PMID:7298798 PMID:3097114 PMID:2888037 RGD:2315674, RGD:2315684, RGD:2315685 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor ISO
IEP		 mRNA, protein:decreased expression:kidney, liver RGD PMID:11469393 PMID:12054124 RGD:2307367, RGD:2307366 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GIMAP5 GTPase, IMAP family member 5 ISO DNA:frameshift deletion (rat) RGD PMID:12097339 RGD:619544 NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033 		JBrowse link
G GLIS3 GLIS family zinc finger 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GPX3 glutathione peroxidase 3 IEP protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 onset IAGP RGD PMID:16390810 RGD:2306629 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 ISO mRNA:decreased expression:islets of Langerhans (rat) RGD PMID:23111281 RGD:7794858
G HDAC1 histone deacetylase 1 IEP protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635 		JBrowse link
G HDAC2 histone deacetylase 2 IEP protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HDAC3 histone deacetylase 3 IEP protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP RGD PMID:7576003 RGD:6480651 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP RGD PMID:7576003 RGD:6480651 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility
onset		 IAGP
EXP		 DNA:polymorphisms: :multiple
DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:26168013 PMID:18769865 PMID:12021143 PMID:16731854 PMID:17728790 RGD:2301811, RGD:2301817, RGD:2301812, RGD:5147626 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility
onset		 IAGP
EXP		 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha ISO RGD PMID:11812739 RGD:5490164 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility
onset		 IAGP
EXP		 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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Diabetes mellitus type 1 OMIM
ClinVar		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HP haptoglobin treatment ISO
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16506275 PMID:20975081 PMID:20853098 RGD:11041804, RGD:11041868 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 IAGP
IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16616286 PMID:11916625 PMID:16616286 RGD:2308924, RGD:2308923 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		JBrowse link
G IAPP islet amyloid polypeptide IEP
IDA		 protein:decreased expression:plasma RGD PMID:19033417 PMID:19190104 RGD:2313357, RGD:2313356 NCBI chr12:21,354,959...21,379,980
Ensembl chr12:21,354,959...21,379,980 		JBrowse link
G ICA1 islet cell autoantigen 1 onset ISO
IDA		 mRNA, protein:decreased expression:thymus gland RGD PMID:11751995 PMID:8647206 PMID:14679103 RGD:2311487, RGD:2311488, RGD:2311486 NCBI chr 7:8,113,184...8,262,555
Ensembl chr 7:8,113,184...8,262,687 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility IAGP
IEP		 DNA:polymorphism
protein:increased expression:plasma		 RGD PMID:16978373 PMID:19373518 RGD:1625758, RGD:2313468 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFNG interferon gamma ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21340626 PMID:18644830 PMID:8977415 RGD:2311493, RGD:10755748 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IFNGR2 interferon gamma receptor 2 ISS OMIM:222100 MouseDO NCBI chr21:33,402,882...33,437,516
Ensembl chr21:33,403,413...33,479,348 		JBrowse link
G IGF1 insulin like growth factor 1 severity IEP
IDA
EXP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:24632065 PMID:16887362 PMID:19156625 PMID:15356074 RGD:2313765, RGD:2306688, RGD:2313769 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF2 insulin like growth factor 2 ISO mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 severity IEP
IDA		 RGD PMID:16887362 PMID:15356074 RGD:2313765, RGD:2313769 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IGHM immunoglobulin heavy constant mu ISS OMIM:222100 MouseDO NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IL10 interleukin 10 IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19430480 PMID:17997340 RGD:2308949 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL15 interleukin 15 IMP
IEP		 protein:increased expression:serum RGD PMID:17670937 PMID:16098919 RGD:2313574, RGD:2313577 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987 		JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL19 interleukin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL1A interleukin 1 alpha IMP
IEP
ISO		 mRNA:increased expression:pancreatic islet, leukocyte
protein:increased expression:small intestine mucosa		 RGD PMID:2405400 PMID:17953531 PMID:8612552 PMID:12941768 RGD:2311075, RGD:2311064, RGD:2311067, RGD:2311065 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta IEP
IDA		 mRNA:increased expression:peripheral blood, leukocyte (human) RGD PMID:21848584 PMID:1797022 RGD:7175335, RGD:7401233 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO
IAGP
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 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP
IDA		 protein:increased expression:serum (human)
mouse model treated with human protein		 RGD PMID:9112337 PMID:9158104 RGD:6907403, RGD:6907407 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 onset ISO
IDA		 RGD PMID:17670937 PMID:3514237 RGD:2313574, RGD:10047089 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL20 interleukin 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,623...206,869,223 		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 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042 		JBrowse link
G IL27 interleukin 27 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha onset IAGP
EXP		 DNA:SNPs
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17676041 PMID:19119414 PMID:19701192 PMID:30224649 PMID:19106270 More... RGD:2311528, RGD:2311527 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta ameliorates ISO RGD PMID:29367461 RGD:42733039 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL4 interleukin 4 ISS OMIM:222100 MouseDO NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 susceptibility IDA
IAGP
ISO
IEP		 protein:increased expression:extracellular space (human)
DNA:polymorphism:promoter:-174G>C (human)
protein:increased expression:extracellular space (mouse)
protein:increased expression:serum:
ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to		 ClinVar
OMIM
RGD		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... RGD:2307193, RGD:2307275, RGD:2307279, RGD:7829749 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6-AS1 IL6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620 		JBrowse link
G INS insulin treatment
susceptibility		 IMP
EXP
ISO
IAGP		 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)
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus		 CTD
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 chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 More... NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISS OMIM:222100 MouseDO NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622 		JBrowse link
G ISL1 ISL LIM homeobox 1 IAGP DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 susceptibility IAGP OMIM NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP
EXP		 ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 More... NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 disease_progression ISO associated with lymphocytic choriomeningitis RGD PMID:22944096 RGD:38676492 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874 		JBrowse link
G LGALS3 galectin 3 ISO RGD PMID:16600178 RGD:9685204 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423 		JBrowse link
G LIPC lipase C, hepatic type IEP protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LOC126859963 BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 IAGP ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,726,650...22,727,849 JBrowse link
G LTA lymphotoxin alpha susceptibility
onset
treatment		 IAGP
IMP
IEP
IDA		 DNA:SNP (human)
DNA:polymorphism: :249A>G (human)
protein:decreased expression:mononuclear cell
DNA:polymorphism: :252A>G (human)		 RGD PMID:19120272 PMID:17989340 PMID:11141334 PMID:9342542 PMID:12622777 More... RGD:2313253, RGD:2313257, RGD:2313263, RGD:2313264, RGD:2313262, RGD:8548842 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MADCAM1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:9313747 PMID:17827401 RGD:2311545, RGD:2311544 NCBI chr19:496,486...505,343
Ensembl chr19:489,176...505,343 		JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISS OMIM:222100 MouseDO NCBI chr18:54,151,606...54,224,669
Ensembl chr18:54,151,606...54,224,669 		JBrowse link
G MBL2 mannose binding lectin 2 no_association IAGP RGD PMID:18361935 RGD:12910829 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MIR146A microRNA 146a susceptibility IAGP DNA:SNP: :rs2910164 (human) RGD PMID:28101643 RGD:24922224 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450 		JBrowse link
G MIR155 microRNA 155 susceptibility IAGP DNA:SNP: :rs767649 (human) RGD PMID:28101643 RGD:24922224 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		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:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 onset IEP protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436 		JBrowse link
G NEUROD1 neuronal differentiation 1 no_association IAGP DNA:polymorphism: :p.A45T (human)
DNA:polymorphism:exon		 RGD PMID:15047635 PMID:16357810 PMID:16909454 RGD:2313487, RGD:2313483, RGD:2313481 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G NOG noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOS1 nitric oxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO
ISS		 OMIM:222100 MouseDO
RGD		 PMID:19535454 RGD:2313214 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH4 notch receptor 4 IAGP DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G PAX4 paired box 4 susceptibility IAGP
EXP		 DNA:polymorphism: :p.R133W (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15834548 PMID:15509590 RGD:2311633, RGD:2311634 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO
ISS		 OMIM:222100 MouseDO
RGD		 PMID:17383157 RGD:2311310 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PLAT plasminogen activator, tissue type IEP RGD PMID:14652638 RGD:2311676 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PPBP pro-platelet basic protein IEP RGD PMID:14730686 RGD:1625598 NCBI chr 4:73,986,439...73,988,190
Ensembl chr 4:73,986,439...73,988,190 		JBrowse link
G PRF1 perforin 1 ISS OMIM:222100 MouseDO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKCQ protein kinase C theta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301 		JBrowse link
G PRRC2A proline rich coiled-coil 2A onset IAGP DNA:polymorphism RGD PMID:15842729 PMID:10987645 RGD:2306963, RGD:2306964 NCBI chr 6:31,620,715...31,637,771
Ensembl chr 6:31,620,715...31,637,771 		JBrowse link
G PRSS1 serine protease 1 ISO protein:increased expression:serum RGD PMID:3833185 RGD:1599966 NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IEA GAD PMID:15118671 RGD:1331525 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:18591390 PMID:28492532 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G PTH parathyroid hormone IAGP DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 onset
susceptibility		 IAGP
ISO
EXP		 DNA: snp: cds: C1858T
DNA:missense mutation:cds:p.A629T (rat)
DNA:snp:cds:p.R620W (rs2476601) (human)
CTD Direct Evidence: marker/mechanism		 CTD
OMIM
RGD		 PMID:21190368 PMID:30224649 PMID:15004560 PMID:21873553 PMID:25513733 More... RGD:6484524, RGD:6484692, RGD:11532754, RGD:9835029, RGD:11533996 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N IDA RGD PMID:19741189 RGD:2313289 NCBI chr 2:219,289,623...219,309,401
Ensembl chr 2:219,289,623...219,309,648 		JBrowse link
G PTPRN2 protein tyrosine phosphatase receptor type N2 ISO
IDA
ISS		 OMIM:222100 MouseDO
RGD		 PMID:12419281 PMID:18193190 RGD:2311684, RGD:2311682 NCBI chr 7:157,539,056...158,587,823
Ensembl chr 7:157,539,056...158,587,823 		JBrowse link
G RAN RAN, member RAS oncogene family IMP human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr12:130,872,066...130,877,678
Ensembl chr12:130,872,037...130,877,678 		JBrowse link
G REG1A regenerating family member 1 alpha IDA human protein in a mouse model RGD PMID:9564847 RGD:9850125 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409 		JBrowse link
G RETN resistin IEP protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G SELE selectin E IEP protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705 		JBrowse link
G SELL selectin L ISS OMIM:222100 MouseDO NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702 		JBrowse link
G SENP1 SUMO specific peptidase 1 ISS OMIM:222100 MouseDO NCBI chr12:48,042,897...48,106,079
Ensembl chr12:48,042,897...48,106,079 		JBrowse link
G SERPINA7 serpin family A member 7 IEP protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:106,032,435...106,038,727
Ensembl chr  X:106,032,435...106,038,727 		JBrowse link
G SERPINF1 serpin family F member 1 IEP protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SH2B3 SH2B adaptor protein 3 susceptibility EXP
IAGP		 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 chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility IAGP
ISO
EXP		 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 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IEP protein:decreased expression:pancreas (human) RGD PMID:19223416 RGD:5131199 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 IAGP DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 IMP RGD PMID:18682608 RGD:2308812 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,079...41,907,307 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISS OMIM:222100 MouseDO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO
IAGP		 DNA:mutation:promoter (mouse)
DNA:polymorphisms (human)
DNA:insertion:intron (human)		 RGD PMID:9300732 PMID:9129974 PMID:9458110 RGD:2312370, RGD:2312371, RGD:2312369 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP RGD PMID:17192492 PMID:1300236 RGD:2312368, RGD:2312373 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TBP TATA-box binding protein susceptibility
no_association		 IAGP DNA:repeat:cds:g.172(CAG/CAA)38 (human) RGD PMID:15381080 PMID:15850778 RGD:5684348, RGD:5684349 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TF transferrin IDA RGD PMID:22861364 RGD:7244379 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		JBrowse link
G TGFB1 transforming growth factor beta 1 IEP protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G THBD thrombomodulin disease_progression IEP protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 IEP protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		JBrowse link
G TLR2 toll like receptor 2 no_association IAGP
IEP
ISO		 DNA:SNP: :1350T>C (human)
DNA:SNP: :rs3804100 (human)
protein:increased expression:monocyte		 RGD PMID:15699513 PMID:17130564 PMID:19148143 PMID:18029454 PMID:17707128 RGD:2312686, RGD:2312687, RGD:2312679, RGD:2312683, RGD:2312684 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260 		JBrowse link
G TLR3 toll like receptor 3 IAGP DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) RGD PMID:16029432 RGD:5129476 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TLR4 toll like receptor 4 ISO
IEP		 protein:increased expression:monocyte RGD PMID:16728431 PMID:18029454 RGD:2312492, RGD:2312683 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP
EXP		 DNA:SNP (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23640034 PMID:19120272 RGD:2313253 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFSF10 TNF superfamily member 10 IEP
ISO		 RGD PMID:18057577 PMID:12882912 RGD:2312740, RGD:2312743 NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475 		JBrowse link
G TNFSF4 TNF superfamily member 4 ISS OMIM:222100 MouseDO NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331 		JBrowse link
G TYK2 tyrosine kinase 2 IAGP
EXP		 ClinVar Annotator: match by term: Virus-induced diabetes
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:26288847 PMID:30224649 NCBI chr19:10,350,533...10,380,572
Ensembl chr19:10,350,533...10,380,608 		JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085 		JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 ISO mRNA, protein:increased expression:liver RGD PMID:9841869 RGD:1600450 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr19:6,772,708...6,857,361
Ensembl chr19:6,772,708...6,857,366 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP associated with Kidney Failure, Chronic;protein:increased expression:artery: RGD PMID:22210567 RGD:7241034 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765 		JBrowse link
G VWF von Willebrand factor ISO RGD PMID:10729383 RGD:13673887 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein no_association ISO
IAGP		 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 chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) RGD PMID:16759312 RGD:2313136 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G YY1 YY1 transcription factor treatment ISO DNA:SNPs:intron RGD PMID:15234341 PMID:15619288 RGD:9588271, RGD:9588274 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION		 ClinVar
OMIM		 PMID:10521293 PMID:10679252 PMID:11244483 PMID:11295831 PMID:11709537 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:50,190,777...50,201,007
Ensembl chr  X:50,190,777...50,201,007 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP 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:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCNB3 cyclin B3 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:50,202,713...50,351,914
Ensembl chr  X:50,202,713...50,351,914 		JBrowse link
G CDK16 cyclin dependent kinase 16 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,218,303...47,229,997
Ensembl chr  X:47,217,860...47,229,997 		JBrowse link
G CFP complement factor properdin IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G DGKK diacylglycerol kinase kappa IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:50,365,409...50,470,825
Ensembl chr  X:50,365,409...50,470,825 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ELK1 ETS transcription factor ELK1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,635,520...47,650,604
Ensembl chr  X:47,635,521...47,650,604 		JBrowse link
G ERAS ES cell expressed Ras IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,826,513...48,829,869
Ensembl chr  X:48,826,513...48,830,138 		JBrowse link
G FOXP3 forkhead box P3 IAGP
EXP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 More... RGD:1598959 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
G GAGE1 G antigen 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,599,013...49,608,538
Ensembl chr  X:49,599,020...49,608,538 		JBrowse link
G GAGE12B G antigen 12B IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,341,164...49,529,982
Ensembl chr  X:49,529,869...49,529,985
Ensembl chr  X:49,529,869...49,529,985 		JBrowse link
G GAGE12C G antigen 12C IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,532,177...49,539,538
Ensembl chr  X:49,532,177...49,539,538 		JBrowse link
G GAGE12D G antigen 12D IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,541,733...49,549,094
Ensembl chr  X:49,541,733...49,549,094 		JBrowse link
G GAGE12E G antigen 12E IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,551,289...49,558,645
Ensembl chr  X:49,551,289...49,558,645 		JBrowse link
G GAGE12F G antigen 12F IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,560,842...49,568,205
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12G G antigen 12G IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,570,397...49,577,757
Ensembl chr  X:49,570,400...49,577,754 		JBrowse link
G GAGE12H G antigen 12H IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,579,949...49,587,301
Ensembl chr  X:49,579,949...49,587,301 		JBrowse link
G GAGE12I G antigen 12I IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,341,210...49,529,985
Ensembl chr  X:49,551,278...49,568,218
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12J G antigen 12J IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,322,037...49,329,384
Ensembl chr  X:49,322,037...49,329,384 		JBrowse link
G GAGE13 G antigen 13 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,331,582...49,338,949
Ensembl chr  X:49,331,582...49,338,949 		JBrowse link
G GAGE2A G antigen 2A IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,589,496...49,596,824
Ensembl chr  X:49,589,496...49,596,824 		JBrowse link
G GAGE2B G antigen 2B IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,331,615...49,338,933 JBrowse link
G GAGE2C G antigen 2C IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,331,615...49,338,962 JBrowse link
G GAGE2D G antigen 2D IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,560,844...49,568,208 JBrowse link
G GAGE2E G antigen 2E IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,560,886...49,568,208
Ensembl chr  X:49,341,192...49,345,922 		JBrowse link
G GAGE8 G antigen 8 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,973,723...49,002,264
Ensembl chr  X:48,973,720...49,002,265 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G INE1 inactivation escape 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,204,848...47,205,861
Ensembl chr  X:47,204,921...47,205,865 		JBrowse link
G JADE3 jade family PHD finger 3 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:46,912,301...47,061,242
Ensembl chr  X:46,912,276...47,061,242 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,961,380...48,971,844
Ensembl chr  X:48,961,378...48,971,844 		JBrowse link
G LINC01560 long intergenic non-protein coding RNA 1560 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,482,716...47,485,227
Ensembl chr  X:47,483,571...47,484,823 		JBrowse link
G MAGIX MAGI family member, X-linked IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,162,665...49,168,774
Ensembl chr  X:49,162,564...49,168,774 		JBrowse link
G MIR502 microRNA 502 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:50,014,598...50,014,683
Ensembl chr  X:50,014,598...50,014,683 		JBrowse link
G MIR532 microRNA 532 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:50,003,148...50,003,238
Ensembl chr  X:50,003,148...50,003,238 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PAGE1 PAGE family member 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,687,447...49,695,984
Ensembl chr  X:49,687,447...49,695,984 		JBrowse link
G PAGE4 PAGE family member 4 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,829,260...49,834,264
Ensembl chr  X:49,829,260...49,834,264 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,831,096...48,835,610
Ensembl chr  X:48,831,096...48,835,610 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,913,182...48,919,024
Ensembl chr  X:48,913,182...48,919,024 		JBrowse link
G PLP2 proteolipid protein 2 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,171,898...49,175,235
Ensembl chr  X:49,171,898...49,175,235 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,269,793...49,301,469
Ensembl chr  X:49,269,793...49,301,461 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRAF2 PRA1 domain family member 2 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,174,802...49,186,373
Ensembl chr  X:49,174,802...49,186,528 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBM3 RNA binding motif protein 3 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,574,484...48,581,162
Ensembl chr  X:48,574,449...48,581,162 		JBrowse link
G RGN regucalcin IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,078,443...47,093,313
Ensembl chr  X:47,078,355...47,093,314 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G SHROOM4 shroom family member 4 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,586,796...50,814,302 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,458,544...48,470,260
Ensembl chr  X:48,458,537...48,470,260 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118 		JBrowse link
G SPACA5 sperm acrosome associated 5 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,004,336...48,009,733
Ensembl chr  X:48,004,336...48,009,733 		JBrowse link
G SPACA5B sperm acrosome associated 5B IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,130,626...48,132,620
Ensembl chr  X:48,130,626...48,132,620 		JBrowse link
G SSX1 SSX family member 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G SSX3 SSX family member 3 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,346,427...48,356,703
Ensembl chr  X:48,346,427...48,356,707 		JBrowse link
G SSX4 SSX family member 4 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,383,539...48,393,347
Ensembl chr  X:48,383,516...48,393,347 		JBrowse link
G SSX4B SSX family member 4B IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,402,082...48,411,960
Ensembl chr  X:48,402,082...48,411,960 		JBrowse link
G SSX5 SSX family member 5 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,186,220...48,196,795
Ensembl chr  X:48,186,220...48,196,795 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016 		JBrowse link
G SYN1 synapsin I IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857 		JBrowse link
G SYP synaptophysin IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218 		JBrowse link
G TBC1D25 TBC1 domain family member 25 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,539,714...48,562,609
Ensembl chr  X:48,539,714...48,562,609 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,893,447...48,898,143
Ensembl chr  X:48,893,447...48,898,143 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G USP11 ubiquitin specific peptidase 11 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,233,009...47,248,328
Ensembl chr  X:47,232,866...47,248,328 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,651,796...47,659,180
Ensembl chr  X:47,651,796...47,659,180 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDR13 WD repeat domain 13 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,597,492...48,608,869
Ensembl chr  X:48,590,042...48,608,869 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G ZNF157 zinc finger protein 157 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,370,578...47,414,498
Ensembl chr  X:47,370,578...47,414,498 		JBrowse link
G ZNF182 zinc finger protein 182 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,974,851...48,003,989
Ensembl chr  X:47,974,851...48,003,989 		JBrowse link
G ZNF41 zinc finger protein 41 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,445,178...47,483,222
Ensembl chr  X:47,445,178...47,483,222 		JBrowse link
G ZNF630 zinc finger protein 630 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:48,057,516...48,071,640
Ensembl chr  X:47,983,356...48,071,658 		JBrowse link
G ZNF81 zinc finger protein 81 IAGP ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561 		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 IAGP DNA:SNP: :49A>G (human) RGD PMID:12021137 RGD:2301997 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G SUMO4 small ubiquitin like modifier 4 IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 6:149,400,262...149,401,278
Ensembl chr 6:149,400,262...149,401,278 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		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 IAGP ClinVar Annotator: match by term: Mauriac syndrome ClinVar PMID:27207549 PMID:28492532 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
type 1 diabetes mellitus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL2RA interleukin 2 receptor subunit alpha susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 10
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 chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		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 IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 OMIM
ClinVar		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		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 IAGP ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 17 ClinVar PMID:25741868 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		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 chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INS insulin IAGP
ISO		 ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
DNA:missense mutation:cds:p.C96Y (mouse)		 OMIM
ClinVar
RGD		 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... RGD:14401710 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		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 IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 20
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 20		 OMIM
ClinVar		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		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 IAGP ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 22 ClinVar
OMIM		 PMID:25741868 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CCR5AS CCR5 antisense RNA IAGP ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 22 ClinVar PMID:25741868 NCBI chr 3:46,364,660...46,407,059
Ensembl chr 3:46,364,391...46,407,117 		JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUMO4 small ubiquitin like modifier 4 IAGP ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 5 ClinVar
OMIM		 PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 6:149,400,262...149,401,278
Ensembl chr 6:149,400,262...149,401,278 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		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 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
Wolcott-Rallison syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC104134.1 novel transcript IAGP ClinVar Annotator: match by term: Wolcott-Rallison dysplasia ClinVar PMID:7551159 PMID:11997520 PMID:12960215 PMID:19837917 PMID:25741868 More... NCBI chr 2:88,538,720...88,575,610
Ensembl chr 2:88,538,720...88,575,610 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia		 ClinVar
OMIM
RGD		 PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID:16813601 More... RGD:734923 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		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 IAGP DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... RGD:1599813 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein IAGP 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 chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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
IAGP
EXP		 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 29102
    disease of anatomical entity 23393
      endocrine system disease 7154
        diabetes mellitus 1755
          type 1 diabetes mellitus 330
            Bangstad Syndrome 0
            Mauriac Syndrome 1
            Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
            Wolcott-Rallison syndrome 2
            Wolfram syndrome + 4
            fulminant type 1 diabetes 0
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 92
            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 4
            type 1 diabetes mellitus 20 1
            type 1 diabetes mellitus 21 0
            type 1 diabetes mellitus 22 2
            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 29102
    Developmental Disease 26176
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24914
        genetic disease 24699
          inherited metabolic disorder 6796
            carbohydrate metabolic disorder 3289
              glucose metabolism disease 1909
                diabetes mellitus 1755
                  type 1 diabetes mellitus 330
                    Bangstad Syndrome 0
                    Mauriac Syndrome 1
                    Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
                    Wolcott-Rallison syndrome 2
                    Wolfram syndrome + 4
                    fulminant type 1 diabetes 0
                    immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 92
                    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 4
                    type 1 diabetes mellitus 20 1
                    type 1 diabetes mellitus 21 0
                    type 1 diabetes mellitus 22 2
                    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