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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:type 1 diabetes mellitus
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Accession:DOID:9744 term browser browse the term
Definition:A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. (DO)
Synonyms:exact_synonym: IDDM;   IDDM1;   IDDMX;   Insulin-Dependent Diabetes Mellitus 1;   T1D;   autoimmune diabetes;   brittle diabetes mellitus;   diabetes mellitus, type I;   insulin-dependent diabetes mellitus;   juvenile-onset diabetes mellitus;   sudden-onset diabetes mellitus;   type 1 diabetes
 narrow_synonym: JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1;   JUVENILE-ONSET DIABETES;   neonatal insulin-dependent diabetes mellitus;   virus-induced diabetes
 related_synonym: 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: GARD:10268;   NCI:C2986
For additional species annotation, visit the Alliance of Genome Resources.



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type 1 diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18025464 NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Ace angiotensin I converting enzyme disease progression ISO protein:increased activity:serum (human)
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD PMID:1336356 PMID:9025006 RGD:7829770, RGD:7829799 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:2658981 RGD:2312438 NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Acp1 acid phosphatase 1 onset ISO RGD PMID:15586390 PMID:11912546 RGD:2313182, RGD:2313186 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adrb1 adrenoceptor beta 1 IEP RGD PMID:21491159 RGD:6893642 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO DNA:SNP, haplotype: :557G>A (p.G82S) (human)
DNA:SNP:promoter:-374T>A (human)
protein:decreased expression:serum (human)
protein:increased expression:renal cortex (mouse)
RGD PMID:18420491 PMID:10553500 PMID:16969646 PMID:21870072 PMID:21738623 RGD:2325657, RGD:8695961, RGD:8695958, RGD:7244183, RGD:7243937 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Aif1 allograft inflammatory factor 1 onset IDA
ISO
DNA:polymorphism:intron:rs2259571 (human) RGD PMID:9391121 PMID:18987644 RGD:2313043, RGD:2313199 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO RGD PMID:12706323 RGD:2311151 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:19171731 PMID:1579407 RGD:2313980, RGD:2313972 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO
IMP
DNA:polymorphisms: :multiple RGD PMID:1579407 PMID:21670290 PMID:16505251 RGD:2313972, RGD:7207205, RGD:2306765 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:urine (human) GAD
RGD
PMID:15118671 PMID:22678621 RGD:1331525, RGD:6903197 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Apom apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
JBrowse link
G Arntl2 aryl hydrocarbon receptor nuclear translocator-like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
JBrowse link
G Avp arginine vasopressin IAGP RGD PMID:13995944 PMID:5692127 RGD:2314661, RGD:632128 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Avpdi arginine vasopressin; diabetes insipidus mutant IAGP RGD PMID:13995944 PMID:5692127 RGD:2314661, RGD:632128
G B2m beta-2 microglobulin ISO RGD PMID:11572996 PMID:15446308 RGD:2311238, RGD:2311235 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24342660 RGD:9684973 NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G Bche butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:plasma
protein:increased expression:serum:
RGD PMID:21041817 PMID:9850345 RGD:7207232, RGD:7207419 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Btc betacellulin susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412
JBrowse link
G C3 complement C3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Casp12 caspase 12 IEP
ISO
protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23499715 PMID:15855338 RGD:2311451 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 ISO RGD PMID:17880769 PMID:14617576 RGD:2311245, RGD:2311322 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Cblb Cbl proto-oncogene B no_association
susceptibility
ISO
IDA
IAGP
DNA:SNP:exon:rs3772534 (human)
DNA:nonsense mutation (rat)
DNA:missense mutations: :multiple (human)
DNA:SNPs: :multiple (human)
RGD PMID:17209142 PMID:12118252 PMID:12118252 PMID:18201552 PMID:15629882 More... RGD:2314039, RGD:625457, RGD:625457, RGD:2314037, RGD:2314040, RGD:2314041 NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 onset ISO protein:increased expression:serum
mRNA:increased expression:pancreatic islet (mouse)
RGD PMID:19092169 PMID:11317664 RGD:2306983, RGD:8549575 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 no_association ISO DNA:polymorphism
DNA:polymorphism: :p.V64I (human)
RGD PMID:12770795 PMID:10400139 RGD:2313562, RGD:2313564 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO
IEP
protein:decreased expression:blood, mononuclear cell
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
mRNA:increased expression:splenocyte (rat)
RGD PMID:12145160 PMID:23773920 PMID:15240727 RGD:2317571, RGD:8551818, RGD:4890459 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd14 CD14 molecule ISO protein:increased expression:monocyte RGD PMID:14614560 PMID:10831941 RGD:2314173, RGD:2314175 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd28 Cd28 molecule onset ISO DNA:polymorphism:intron (human)
protein:decreased expression:T cell
RGD PMID:11685455 PMID:15504310 PMID:9410902 RGD:2307199, RGD:2307197, RGD:2307201 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd38 CD38 molecule disease_progression ISO
ISS
OMIM:222100 MouseDO
RGD
PMID:16459468 PMID:12488956 PMID:16920929 RGD:2307230, RGD:2307231, RGD:2307229 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand treatment ISO
IMP
protein:increased expression:serum RGD PMID:16505242 PMID:26716812 PMID:12419284 PMID:16611325 PMID:15448088 RGD:2314212, RGD:11344963, RGD:8547798, RGD:5491182, RGD:2314220 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:19658094 RGD:5132624 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cd86 CD86 molecule onset ISO human gene in mouse model
protein:increased expression:dendritic cell
protein:decreased expression:dendritic cells
protein:decreased expression:macrophage,dendritic cell,T cell
RGD PMID:17947667 PMID:12742378 PMID:18316361 PMID:10679081 PMID:15356107 More... RGD:4892258, RGD:2313920, RGD:2313906, RGD:2313927, RGD:2313917, RGD:2313911 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO
ISS
OMIM:222100 MouseDO
RGD
PMID:10319860 RGD:2314613 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1
protein:increased activity:serum
ClinVar
RGD
PMID:18414213 PMID:25741868 PMID:10580419 PMID:9536927 RGD:2313967, RGD:2313969 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
JBrowse link
G Cfb complement factor B ISO protein:increased expression:serum
DNA:polymorphism
RGD PMID:3907907 PMID:19000152 RGD:2311338, RGD:2311335 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs725613 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs2903692A (human)
CTD
RGD
PMID:17632545 PMID:18946483 PMID:18946483 PMID:19221398 RGD:2313978, RGD:5491176 NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20012460 PMID:17603912 RGD:2314682 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD
RGD
PMID:20012460 PMID:22864910 PMID:20012460 RGD:6906966, RGD:8547537 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNP:promoter:-1661A>G (human)
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human)
RGD PMID:16671945 PMID:9259273 PMID:18443194 PMID:8817351 RGD:2301995, RGD:1300385, RGD:2301974, RGD:2301958 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctsb cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsh cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
JBrowse link
G Ctsl cathepsin L susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO
IMP
protein:increased expression:serum RGD PMID:16148094 PMID:19046227 PMID:16339582 RGD:2311363, RGD:2311358, RGD:2311362 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 onset
no_association
ISO DNA:polymorphism:3' utr (human)
mRNA:increased expression:bone marrow
RGD PMID:11334429 PMID:14522095 PMID:14679085 PMID:12383202 PMID:18793419 RGD:2306563, RGD:2306560, RGD:2306561, RGD:2306562, RGD:2301942 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)
DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
RGD PMID:17223345 PMID:17606874 RGD:2307312, RGD:2307311 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 susceptibility ISO DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) RGD PMID:17607662 RGD:2315692 NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Ddx39b DExD-box helicase 39B ISO RGD PMID:11756005 RGD:13702905 NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Dock8 dedicator of cytokinesis 8 IAGP RGD PMID:26363782 RGD:11532657 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Dock8m1Ztm dedicator of cytokinesis 8;mutant 1, Ztm IAGP RGD PMID:26363782 RGD:11532657
G Dpp4 dipeptidylpeptidase 4 ISO RGD PMID:19073764 RGD:2313702 NCBI chr 3:46,962,243...47,043,870
Ensembl chr 3:46,962,243...47,043,901
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:7485483 RGD:2298693 NCBI chr10:16,680,489...16,683,276 JBrowse link
G E2f1 E2F transcription factor 1 ISO
ISS
E2f1/E2f2 double knockout
OMIM:222100
MouseDO
RGD
PMID:15146237 RGD:1300306 NCBI chr 3:143,064,535...143,075,362 JBrowse link
G E2f2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217
JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egfr epidermal growth factor receptor IEP protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO DNA:polymorphism (human) RGD PMID:1982251 PMID:1686010 RGD:2313850, RGD:2313901 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G F7 coagulation factor VII ISO protein:increased activity, expression:plasma (human)
associated with Kidney Failure; protein:increased expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)
RGD PMID:11297753 PMID:15860378 PMID:9686915 PMID:11146704 RGD:2312384, RGD:2312383, RGD:2312389, RGD:2312385 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:insulin-secreting cells RGD PMID:9254659 PMID:19120316 RGD:2315754, RGD:2315742 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO
ISS
IDA
protein:increased expression:lymphocyte
OMIM:222100
mRNA:decreased expression:lymphocyte
MouseDO
RGD
PMID:19120316 PMID:17324464 PMID:16180659 RGD:2315742, RGD:2315748, RGD:2315751 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:17617565 RGD:5508453 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Foxo1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO associated with Autoimmune Diseases;DNA:mutations: :multiple (human)
ClinVar Annotator: match by OMIM:222100
ClinVar
RGD
PMID:25741868 PMID:11137992 RGD:1598959 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
JBrowse link
G G6pc2 glucose-6-phosphatase catalytic subunit 2 ISS OMIM:222100 MouseDO NCBI chr 3:53,999,821...54,005,539 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gad2 glutamate decarboxylase 2 susceptibility
onset
ISO
ISS
OMIM:222100 MouseDO
RGD
PMID:19085183 PMID:19741189 PMID:19188044 PMID:18005036 RGD:2313294, RGD:2313289, RGD:2313292, RGD:2313296 NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
JBrowse link
G Gal galanin and GMAP prepropeptide IEP
ISO
mRNA, protein:increased expression:celiac ganglion
protein:increased expression:plasma
RGD PMID:16487586 PMID:16060906 RGD:1624331, RGD:2313736 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
JBrowse link
G Gc GC, vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Gh1 growth hormone 1 ISO
IDA
protein:increased expression:serum RGD PMID:3097114 PMID:7298798 PMID:2888037 RGD:2315684, RGD:2315674, RGD:2315685 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ghr growth hormone receptor ISO mRNA, protein:decreased expression:kidney, liver RGD PMID:11469393 PMID:12054124 RGD:2307367, RGD:2307366 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339 PMID:12031988 RGD:619544, RGD:633092 NCBI chr 4:77,693,417...77,701,025
Ensembl chr 4:77,687,564...77,703,086
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO RGD PMID:16390810 RGD:2306629 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 IEP mRNA:decreased expression:islets of Langerhans (rat) RGD PMID:23111281 RGD:7794858 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar Annotator: match by OMIM:222100
OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Hp haptoglobin treatment IEP
ISO
IDA
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16506275 PMID:20975081 PMID:20853098 RGD:11041804, RGD:11041868 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16616286 PMID:16616286 PMID:11916625 RGD:2308923, RGD:2308924 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Iapp islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417 PMID:19190104 RGD:2313357, RGD:2313356 NCBI chr 4:175,237,013...175,244,373
Ensembl chr 4:175,237,115...175,242,920
JBrowse link
G Ica1 islet cell autoantigen 1 onset ISO mRNA, protein:decreased expression:thymus gland RGD PMID:11751995 PMID:14679103 PMID:8647206 RGD:2311487, RGD:2311486, RGD:2311488 NCBI chr 4:36,656,475...36,804,705
Ensembl chr 4:36,656,475...36,804,298
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO protein:increased expression:plasma RGD PMID:16978373 PMID:19373518 RGD:1625758, RGD:2313468 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21340626 PMID:18644830 PMID:8977415 RGD:2311493, RGD:10755748 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISS OMIM:222100 MouseDO NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:24632065 PMID:19156625 PMID:15356074 PMID:16887362 RGD:2306688, RGD:2313769, RGD:2313765 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf2 insulin-like growth factor 2 IEP mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO RGD PMID:16887362 PMID:15356074 RGD:2313765, RGD:2313769 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19430480 PMID:17997340 RGD:2308949 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919 PMID:17670937 RGD:2313577, RGD:2313574 NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:small intestine mucosa
mRNA:increased expression:pancreatic islet, leukocyte
RGD PMID:2405400 PMID:17953531 PMID:12941768 PMID:8612552 RGD:2311075, RGD:2311064, RGD:2311065, RGD:2311067 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:peripheral blood, leukocyte (human) RGD PMID:21848584 PMID:1797022 RGD:7175335, RGD:7401233 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO
ISS
protein:decreased expression:pancreatic islet
OMIM:222100
DNA:polymorphism
DNA:SNP (human)
MouseDO
RGD
PMID:7835294 PMID:8911996 PMID:11197691 RGD:2311068, RGD:6892703, RGD:2311106 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human)
mouse model treated with human protein
RGD PMID:9112337 PMID:9158104 RGD:6907403, RGD:6907407 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 onset ISO RGD PMID:17670937 PMID:3514237 RGD:2313574, RGD:10047089 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
JBrowse link
G Il21 interleukin 21 susceptibility
treatment
ISO associated with Arenaviridae infectious disease RGD PMID:27300756 PMID:28711285 RGD:127285370, RGD:127285590 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha onset ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17676041 PMID:19119414 PMID:19701192 PMID:30224649 PMID:19119414 More... RGD:2311527, RGD:2311528 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ameliorates ISO RGD PMID:29367461 RGD:42733039 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Il4 interleukin 4 ISS OMIM:222100 MouseDO NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-174G>C (human)
ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to
protein:increased expression:serum:
protein:increased expression:extracellular space (mouse)
protein:increased expression:extracellular space (human)
ClinVar
OMIM
RGD
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... RGD:2307275, RGD:7829749, RGD:2307279, RGD:2307193 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 treatment
susceptibility
ISO human gene in a mouse model
human protein in a mouse model
associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter (human)
associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
DNA:SNP:promoter:-23A>T (rs689) (human)
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:17151334 PMID:20620209 PMID:29420703 PMID:18824271 PMID:16113600 More... RGD:2311114, RGD:150340616, RGD:150340615, RGD:150340614, RGD:150340612, RGD:150340611, RGD:150340608, RGD:150340607, RGD:150340606, RGD:150340605 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISS OMIM:222100 MouseDO NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO OMIM NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15580558 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Klrk1 killer cell lectin like receptor K1 disease_progression ISO associated with lymphocytic choriomeningitis RGD PMID:22944096 RGD:38676492 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Lgals3 galectin 3 IEP RGD PMID:16600178 RGD:9685204 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
JBrowse link
G Lipc lipase C, hepatic type ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lta lymphotoxin alpha onset
treatment
susceptibility
ISO protein:decreased expression:mononuclear cell
DNA:polymorphism: :252A>G (human)
DNA:SNP (human)
DNA:polymorphism: :249A>G (human)
RGD PMID:9342542 PMID:8242903 PMID:12622777 PMID:19120272 PMID:11141334 More... RGD:2313264, RGD:8548842, RGD:2313262, RGD:2313253, RGD:2313263, RGD:2313257 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:9313747 PMID:17827401 RGD:2311545, RGD:2311544 NCBI chr 7:10,036,301...10,039,703
Ensembl chr 7:10,036,301...10,039,703
JBrowse link
G Mbl2 mannose binding lectin 2 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir146a microRNA 146a susceptibility ISO DNA:SNP: :rs2910164 (human) RGD PMID:28101643 RGD:24922224 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir155 microRNA 155 susceptibility ISO DNA:SNP: :rs767649 (human) RGD PMID:28101643 RGD:24922224 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 susceptibility ISO DNA:transversion: :m.7778G>T (mouse) RGD PMID:19759059 RGD:5490297 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Ncam1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Neurod1 neuronal differentiation 1 no_association ISO DNA:polymorphism: :p.A45T (human)
DNA:polymorphism:exon
RGD PMID:15047635 PMID:16357810 PMID:16909454 RGD:2313487, RGD:2313483, RGD:2313481 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
G Nog noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos2 nitric oxide synthase 2 ISO
ISS
OMIM:222100 MouseDO
RGD
PMID:19535454 RGD:2313214 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Notch4 notch receptor 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Oas1a 2'-5' oligoadenylate synthetase 1A ISO ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to ClinVar PMID:16014697 PMID:28492532 NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
JBrowse link
G Pax4 paired box 4 susceptibility ISO DNA:polymorphism: :p.R133W (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15509590 PMID:15834548 RGD:2311634, RGD:2311633 NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO
ISS
OMIM:222100 MouseDO
RGD
PMID:17383157 RGD:2311310 NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:14652638 RGD:2311676 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppbp pro-platelet basic protein ISO RGD PMID:14730686 RGD:1625598 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
JBrowse link
G Prf1 perforin 1 ISS OMIM:222100 MouseDO NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Prrc2a proline-rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:10987645 PMID:15842729 RGD:2306964, RGD:2306963 NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130
JBrowse link
G Prss1 serine protease 1 IEP protein:increased expression:serum RGD PMID:3833185 RGD:1599966 NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO GAD PMID:15118671 RGD:1331525 NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Pth parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility
onset
ISO
IAGP
DNA:snp: cds: 1858C>T
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.R620W (rs2476601) (human)
DNA:missense mutation:cds:p.A629T (rat)
CTD
OMIM
RGD
PMID:21190368 PMID:30224649 PMID:15004560 PMID:20176734 PMID:25505293 More... RGD:6484524, RGD:11533996, RGD:9835029, RGD:11532754, RGD:6484692 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO
IDA
RGD PMID:19741189 PMID:7568143 RGD:2313289, RGD:729710 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
JBrowse link
G Ptprn2 protein tyrosine phosphatase, receptor type N2 ISO
ISS
OMIM:222100 MouseDO
RGD
PMID:12419281 PMID:18193190 RGD:2311684, RGD:2311682 NCBI chr 6:137,439,572...138,191,575
Ensembl chr 6:137,439,540...138,191,575
JBrowse link
G Ran RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
JBrowse link
G Reg1a regenerating family member 1 alpha ISO human protein in a mouse model RGD PMID:9564847 RGD:9850125 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
JBrowse link
G Retn resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G RT1-Ba RT1 class II, locus Ba onset
susceptibility
ISO DNA:polymorphisms: :multiple
CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)
CTD
RGD
PMID:26168013 PMID:12021143 PMID:16731854 PMID:18769865 PMID:17728790 RGD:2301817, RGD:2301812, RGD:2301811, RGD:5147626 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility
onset
ISO DNA:polymorphisms, haplotypes:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
associated with Sclerosing Lymphocytic Lobulitis
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)
CTD
RGD
PMID:26168013 PMID:20858521 PMID:28247576 PMID:10562813 PMID:17728790 More... RGD:5147569, RGD:14865008, RGD:11041764, RGD:5147626, RGD:5147575 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:11812739 RGD:5490164 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)
CTD
RGD
PMID:26168013 PMID:12270547 PMID:20510319 PMID:20858521 RGD:2314698, RGD:5147575, RGD:5147569 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:7576003 RGD:6480651 NCBI chr20:4,760,631...4,770,662 JBrowse link
G Sele selectin E ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
JBrowse link
G Sell selectin L ISS OMIM:222100 MouseDO NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G Senp1 SUMO specific peptidase 1 ISS OMIM:222100 MouseDO NCBI chr 7:129,163,173...129,226,766
Ensembl chr 7:129,165,774...129,221,598
JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224649 NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:SNP:intron:rs3731865 (human)
DNA:polymorphism: :274C>T (human)
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16597321 PMID:21524304 PMID:19768110 PMID:16550170 PMID:15877293 RGD:5684926, RGD:5684932, RGD:5684950, RGD:5684955 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc18a2 solute carrier family 18 member A2 IDA
ISO
protein:decreased expression:pancreas (human) RGD PMID:16710474 PMID:19223416 RGD:2317333, RGD:5131199 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
JBrowse link
G Sod1 superoxide dismutase 1 ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISS OMIM:222100 MouseDO NCBI chr 9:49,472,660...49,588,540 JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:insertion:intron (human)
DNA:polymorphisms (human)
DNA:mutation:promoter (mouse)
RGD PMID:9458110 PMID:9129974 PMID:9300732 RGD:2312369, RGD:2312371, RGD:2312370 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:1300236 PMID:17192492 RGD:2312373, RGD:2312368 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tbp TATA box binding protein susceptibility
no_association
ISO DNA:repeat:cds:g.172(CAG/CAA)38 (human) RGD PMID:15381080 PMID:15850778 RGD:5684348, RGD:5684349 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
JBrowse link
G Tf transferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbd thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Tlr2 toll-like receptor 2 no_association ISO DNA:SNP: :1350T>C (human)
protein:increased expression:monocyte
DNA:SNP: :rs3804100 (human)
RGD PMID:17130564 PMID:17707128 PMID:18029454 PMID:19148143 PMID:15699513 RGD:2312687, RGD:2312684, RGD:2312683, RGD:2312679, RGD:2312686 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 ISO DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) RGD PMID:16029432 RGD:5129476 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:monocyte RGD PMID:18029454 PMID:16728431 RGD:2312683, RGD:2312492 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23640034 PMID:19120272 RGD:2313253 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO RGD PMID:12882912 PMID:18057577 RGD:2312743, RGD:2312740 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:222100 MouseDO NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
JBrowse link
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Virus-induced diabetes
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26288847 PMID:30224649 NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA, protein:increased expression:liver RGD PMID:9841869 RGD:1600450 NCBI chr 9:88,801,344...88,808,465 JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Kidney Failure, Chronic;protein:increased expression:artery: RGD PMID:22210567 RGD:7241034 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
G Vwf von Willebrand factor IEP RGD PMID:10729383 RGD:13673887 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein no_association ISO DNA:missense mutation: :p.R456H (human)
DNA:mutations:exons, 5' utr, 3' utr:multiple
RGD PMID:15056606 PMID:10679252 PMID:15008830 RGD:8694393, RGD:8694402, RGD:8694396 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
G Xylt1 xylosyltransferase 1 ISO DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) RGD PMID:16759312 RGD:2313136 NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
JBrowse link
G Yy1 YY1 transcription factor treatment IAGP
IEP
DNA:SNPs:intron RGD PMID:15234341 PMID:15619288 RGD:9588271, RGD:9588274 NCBI chr 6:127,706,739...127,731,907
Ensembl chr 6:127,707,596...127,732,747
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:19471859 PMID:28492532 PMID:30443250 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Foxp3 forkhead box P3 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
ClinVar Annotator: match by OMIM:304790
ClinVar
CTD
OMIM
RGD
PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 More... RGD:1598959 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
Mauriac Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Mauriac syndrome ClinVar PMID:27207549 NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
JBrowse link
type 1 diabetes mellitus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2ra interleukin 2 receptor subunit alpha susceptibility ISO ClinVar Annotator: match by OMIM:601942
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 10
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17676041 PMID:25741868 PMID:28492532 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
type 1 diabetes mellitus 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 12 OMIM
ClinVar
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
type 1 diabetes mellitus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISS OMIM:125852 MouseDO NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2 ClinVar PMID:17855560 PMID:18192540 PMID:18414213 PMID:25741868 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by OMIM:125852
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2
DNA:missense mutation:cds:p.C96Y (mouse)
ClinVar
OMIM
RGD
PMID:17855560 PMID:18192540 PMID:18414213 PMID:25741868 PMID:17911348 RGD:14401710 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2 ClinVar PMID:25741868 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
type 1 diabetes mellitus 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 20
ClinVar Annotator: match by OMIM:612520
OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
type 1 diabetes mellitus 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tagap T-cell activation RhoGTPase activating protein ISO OMIM NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
JBrowse link
type 1 diabetes mellitus 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 22 OMIM
ClinVar
PMID:25741868 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumo4 small ubiquitin-like modifier 4 ISO ClinVar Annotator: match by OMIM:600320 OMIM
ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 5:15,099,322...15,099,913 JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by null ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 1:2,375,026...2,424,759
Ensembl chr 1:2,375,490...2,424,756
JBrowse link
type 1 diabetes mellitus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod1 neuronal differentiation 1 ISS OMIM:600321 MouseDO NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
Wolcott-Rallison syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
ClinVar Annotator: match by OMIM:226980
ClinVar
OMIM
RGD
PMID:7551159 PMID:10932183 PMID:12960215 PMID:16813601 PMID:25741868 More... RGD:734923 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1161832 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 More... RGD:1599813 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Wolfram syndrome 1
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1
OMIM
ClinVar
PMID:1161832 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
CTD
RGD
PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      endocrine system disease 5833
        diabetes mellitus 1407
          type 1 diabetes mellitus 312
            Bangstad Syndrome 0
            Mauriac Syndrome 1
            Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
            Wolcott-Rallison syndrome 1
            Wolfram syndrome + 4
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 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 0
            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 1
            type 1 diabetes mellitus 22 1
            type 1 diabetes mellitus 23 0
            type 1 diabetes mellitus 24 0
            type 1 diabetes mellitus 3 0
            type 1 diabetes mellitus 4 0
            type 1 diabetes mellitus 5 2
            type 1 diabetes mellitus 6 0
            type 1 diabetes mellitus 7 1
            type 1 diabetes mellitus 8 0
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      Immune & Inflammatory Diseases 4020
        immune system disease 3381
          primary immunodeficiency disease 2714
            autoimmune disease 1846
              autoimmune disease of endocrine system 377
                type 1 diabetes mellitus 312
                  Bangstad Syndrome 0
                  Mauriac Syndrome 1
                  Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
                  Wolcott-Rallison syndrome 1
                  Wolfram syndrome + 4
                  immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 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 0
                  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 1
                  type 1 diabetes mellitus 22 1
                  type 1 diabetes mellitus 23 0
                  type 1 diabetes mellitus 24 0
                  type 1 diabetes mellitus 3 0
                  type 1 diabetes mellitus 4 0
                  type 1 diabetes mellitus 5 2
                  type 1 diabetes mellitus 6 0
                  type 1 diabetes mellitus 7 1
                  type 1 diabetes mellitus 8 0
paths to the root