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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:autoimmune disease of endocrine system
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Accession:DOID:0060005 term browser browse the term
Definition:An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Autoimmune Hypothyroidism 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: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:16940, PMID:16084090, PMID:16380615, PMID:16940308, PMID:17033962, PMID:17483490, PMID:18171678, PMID:18414213, PMID:22473935, PMID:23553787, PMID:23826317, PMID:24195946, PMID:25637381, PMID:25741868, PMID:28357410, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
autoimmune pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) RGD PMID:18155707 RGD:5147621 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
autoimmune polyendocrine syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator susceptibility ISO
IMP
Polyendocrinopathies, Autoimmune
CTD Direct Evidence: marker/mechanism
CTD PMID:16982213, PMID:9921903, PMID:29959280 RGD:1599008, RGD:38599145 NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
JBrowse link
G Aireem1Ang autoimmune regulator; ZFN induced mutant1, Ang IMP RGD PMID:29959280 RGD:38599145
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*03, HLA-DQ1*0401 (human)
DNA:polymorphisms:cds:HLA-DQA1*0301 (human)
RGD PMID:16254435, PMID:12734793 RGD:5147646, RGD:5147800 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:16254435 RGD:5147646 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*0405, HLA-DRB1*0802 (human) RGD PMID:16254435 RGD:5147646 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
autoimmune polyendocrine syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
ClinVar Annotator: match by synonym: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
OMIM
ClinVar
PMID:1836330, PMID:2943776, PMID:6031738, PMID:9398839, PMID:9398840, PMID:9717837, PMID:9837820, PMID:9856486, PMID:9888391, PMID:9921903, PMID:10677297, PMID:10720083, PMID:10946904, PMID:11275943, PMID:11343230, PMID:11524731, PMID:11524733, PMID:11600535, PMID:11836330, PMID:12050215, PMID:12471056, PMID:12503856, PMID:12625412, PMID:12843157, PMID:14557425, PMID:14582926, PMID:14974083, PMID:15511668, PMID:15811934, PMID:16114041, PMID:16166780, PMID:16313305, PMID:16684821, PMID:16784312, PMID:16965330, PMID:17101293, PMID:17118990, PMID:17189144, PMID:17220063, PMID:17289071, PMID:17539912, PMID:17675238, PMID:18248641, PMID:18264745, PMID:18274776, PMID:18320920, PMID:18399903, PMID:18414213, PMID:18414681, PMID:18426830, PMID:18616706, PMID:18682433, PMID:18708298, PMID:18713028, PMID:18728167, PMID:19037923, PMID:19246027, PMID:19265170, PMID:19758376, PMID:19807739, PMID:19863576, PMID:20140861, PMID:20185822, PMID:20407228, PMID:20453472, PMID:20718774, PMID:21295522, PMID:21508664, PMID:21724609, PMID:21932610, PMID:22024611, PMID:22104652, PMID:22162465, PMID:23074189, PMID:23133448, PMID:23620608, PMID:24033266, PMID:24158785, PMID:25064028, PMID:25068407, PMID:25361846, PMID:25707324, PMID:25741868, PMID:26084028, PMID:26114819, PMID:26141571, PMID:26467025, PMID:26650942, PMID:26915675, PMID:27048654, PMID:27105486, PMID:27253668, PMID:27504588, PMID:27588307, PMID:27646917, PMID:27884173, PMID:28446514, PMID:28492532, PMID:28567288, PMID:28911151, PMID:28919897, PMID:29335648, PMID:29437776, PMID:29666621, PMID:30290665, PMID:30311386 NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,344,513...11,359,090
Ensembl chr20:11,344,514...11,359,090
JBrowse link
G Gh1 growth hormone 1 ISO RGD PMID:22506635 RGD:10401267 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrh growth hormone releasing hormone ISO RGD PMID:22506635 RGD:10401267 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,330,000...11,340,307
Ensembl chr20:11,329,992...11,340,296
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,620,616...11,620,945
Ensembl chr20:11,620,616...11,620,945
JBrowse link
G LOC690478 similar to keratin associated protein 10-7 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,655,967...11,656,884
Ensembl chr20:11,655,967...11,656,884
JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,488,514...11,491,354
Ensembl chr20:11,489,456...11,490,406
JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,393,860...11,415,889
Ensembl chr20:11,393,877...11,415,882
JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,746,369...11,764,097
Ensembl chr20:11,746,370...11,764,233
JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,726,488...11,737,050
Ensembl chr20:11,726,497...11,737,050
JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,434,062...11,482,880
Ensembl chr20:11,436,267...11,482,051
JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,501,510...11,529,210
Ensembl chr20:11,501,925...11,528,332
JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr20:11,700,089...11,721,823
Ensembl chr20:11,700,089...11,721,838
JBrowse link
autoimmune polyendocrine syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*01, HLA-DQA1*03 (human) RGD PMID:21388354 RGD:5147565 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human) RGD PMID:21388354 RGD:5147565 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*15 (human) RGD PMID:21388354 RGD:5147565 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
autoimmune thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bank1 B-cell scaffold protein with ankyrin repeats 1 onset ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3' utr:6230G>A (rs3087243) (human)
ClinVar Annotator: match by term: Hashimoto's thyroiditis
DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532, PMID:16352685, PMID:14986169, PMID:9398726 RGD:2302003, RGD:7421515, RGD:1300386 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb1 gap junction protein, beta 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Ifng interferon gamma IEP mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il4 interleukin 4 IMP RGD PMID:9892610 RGD:8142396 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 severity ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) RGD PMID:19301205 RGD:2307256 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:
associated with hepatitis C;DNA:SNP:exon:
RGD PMID:22360648, PMID:19703233 RGD:8693703, RGD:14696815 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Hashimoto thyroiditis ClinVar PMID:30311386 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12948297 RGD:2301816 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) RGD PMID:20825955 RGD:5147571 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:12126634 RGD:5147805 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:21683551, PMID:12126634, PMID:20825955 RGD:5147557, RGD:5147805, RGD:5147571 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hashimoto's thyroiditis ClinVar PMID:16940, PMID:16084090, PMID:16380615, PMID:16940308, PMID:17033962, PMID:17483490, PMID:18171678, PMID:18414213, PMID:22473935, PMID:23553787, PMID:23826317, PMID:24195946, PMID:25637381, PMID:25741868, PMID:28357410, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tg thyroglobulin susceptibility ISO ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608175
DNA:SNPs, haplotype:exon:multiple
ClinVar
OMIM
CTD
PMID:10403171, PMID:14657345, PMID:15579800, PMID:19339519, PMID:21757724, PMID:24033266, PMID:25741868, PMID:28942902, PMID:29385629, PMID:29590070, PMID:21683551, PMID:14657345 RGD:5147557, RGD:8548629 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Zfat zinc finger and AT hook domain containing susceptibility ISO ClinVar Annotator: match by OMIM:608175
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11440990, PMID:15294872 NCBI chr 7:109,037,777...109,207,511
Ensembl chr 7:109,037,845...109,205,354
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:29529044 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
diabetic ketoacidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 ISO RGD PMID:12021537 RGD:2314345 NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Pax4 paired box 4 susceptibility ISO ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to ClinVar
OMIM
PMID:15509590, PMID:18414213, PMID:25741868 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179
JBrowse link
Graves Ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase treatment ISO protein:decreased activity:blood:
protein:increased activity:plasma:
RGD PMID:20394549, PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 severity
no_association
ISO associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)
protein:increased expression:serum:
RGD PMID:16893393, PMID:19734241, PMID:22663548 RGD:7421511, RGD:7421523, RGD:7421521 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum
RGD PMID:21067483, PMID:11753760 RGD:7364859, RGD:7365083 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity
susceptibility
ISO protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)
RGD PMID:12186498, PMID:19702713 RGD:7387296, RGD:8549808 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il23r interleukin 23 receptor no_association
susceptibility
ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)
RGD PMID:22663548, PMID:18073300 RGD:7421521, RGD:8549554 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Kif1a kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Serpine1 serpin family E member 1 severity ISO associated with Graves Disease;protein:increased expression:tears (human) RGD PMID:22385289 RGD:8547756 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human)
RGD PMID:15219383, PMID:16191343, PMID:8444271 RGD:7365073, RGD:12904066, RGD:7794734 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tshr thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:31705858, PMID:22673349, PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
Graves' disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing severity ISO protein:increased expression:serum
associated with thyroid diseases; protein:increased expression:serum
RGD PMID:18997483, PMID:20583542 RGD:5686818, RGD:5686857 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) RGD PMID:17143563 RGD:8548467 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:107,592,336...107,617,189
Ensembl chr14:107,592,336...107,617,161
JBrowse link
G Btnl2 butyrophilin-like 2 onset ISO DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G C4a complement C4A ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141
JBrowse link
G C4b complement C4B (Chido blood group) ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:4,302,344...4,316,752
Ensembl chr20:4,302,344...4,316,715
JBrowse link
G Cat catalase treatment ISO protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd40 CD40 molecule onset
no_association
ISO DNA:SNP:5' utr:-1C>T (human) RGD PMID:12593727, PMID:18755875, PMID:15307939 RGD:8547766, RGD:8547778, RGD:8547769 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:8875745 RGD:8547747 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Graves disease ClinVar PMID:30311386 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association
susceptibility
ISO DNA:SNP:promoter:-318C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:49G>A(human)
DNA:SNP: :rs231779(human)
DNA:SNP: :-318C>T(rs11571302)(human)
DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)
DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)
CTD PMID:19731979, PMID:21841780, PMID:23104008, PMID:9861324, PMID:10404810, PMID:20352109, PMID:14986169, PMID:15785242, PMID:12780750, PMID:10369864, PMID:9672157 RGD:2302000, RGD:11352245, RGD:7421517, RGD:7421515, RGD:7421507, RGD:7421505, RGD:1300388, RGD:2302001 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dnmt1 DNA methyltransferase 1 treatment ISO DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Esr2 estrogen receptor 2 susceptibility
no_association
ISO DNA:snp:intron:IVS8G>A (rs4986938) (human)
DNA:repeat
RGD PMID:17941906, PMID:11180758 RGD:8693348, RGD:10045850 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISO RGD PMID:15497458 RGD:1580387 NCBI chr 6:29,975,863...29,987,252
Ensembl chr 6:29,977,797...29,987,451
JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Graves disease ClinVar PMID:12161610, PMID:19429596, PMID:30311386 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human)
CTD Direct Evidence: marker/mechanism
DNA:repeats:intron
CTD
OMIM
PMID:12050214, PMID:16868893, PMID:12050214 RGD:5509883, RGD:5509886 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Icam1 intercellular adhesion molecule 1 no_association
onset
ISO protein:increased expression:blood, lymphocyte
DNA:SNP: :p.K469E (rs5498) (human)
DNA:polymorphism: :c.721G>A (human)
RGD PMID:12357047, PMID:17873320, PMID:14557478 RGD:8158121, RGD:8547702, RGD:8158124 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO DNA:microsatellite repeats:intron:
DNA:polymorphism:cds:+874A>T(human)
DNA:repeats:intron:
protein:increased expression:serum:
RGD PMID:9848715, PMID:15544617, PMID:16970687, PMID:15068623, PMID:2125901 RGD:8142372, RGD:8157604, RGD:8157599, RGD:8142393, RGD:8142373 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: increased expression: blood: T cells and B cells RGD PMID:18832736 RGD:5686433 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP: :rs1800896 (human)
DNA:SNPs:promoter:multiple
protein:increased expression:serum
DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD PMID:21424183, PMID:15497451, PMID:19250272, PMID:19882211 RGD:7364858, RGD:7365074, RGD:7365026, RGD:7364862 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 disease_progression
susceptibility
ISO DNA:SNP:promoter:-1112C>T (rs1800925) (human)
DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)
RGD PMID:21235536, PMID:15483090 RGD:7829719, RGD:8549544 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snp:intron:IVS1+18G>A (rs3819025) (human) RGD PMID:22816799 RGD:9068423 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 no_association ISO protein:increased expression:serum
DNA:SNPs:promoter, exon:multiple
RGD PMID:12689659, PMID:16571086 RGD:8655878, RGD:8655916 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNP:promoter:-511C>T (human) RGD PMID:16025481, PMID:2674184 RGD:7401177, RGD:7401207 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2279527 RGD:8662947 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il23r interleukin 23 receptor susceptibility
no_association
ISO DNA:SNP: :rs7530511(human)
DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)
RGD PMID:18073300, PMID:19021011 RGD:8549554, RGD:8549564 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il6 interleukin 6 disease_progression ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD PMID:16372246, PMID:21235536, PMID:12818091 RGD:7829719, RGD:7829750 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:16372246, PMID:12818091 RGD:7829750 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:23109646 RGD:8693341 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:1346144, PMID:7928443 RGD:8548778, RGD:8548790 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:21465496 RGD:8657376 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: SNP: cds: C1858T
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human)
DNA:SNP, haplotype:promoter:-1123G>C (human)
CTD PMID:21190368, PMID:15504986, PMID:17608818, PMID:18687223 RGD:6484538, RGD:7829763, RGD:7829738 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Rnaset2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms::HLA-DQA1*0501; RGD PMID:8706297 RGD:8547558 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human)
DNA:polymorphism:cds:HLA-DQB1*0602 (human)
RGD PMID:10468909, PMID:11272094 RGD:7421572, RGD:7483568 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility
onset
ISO DNA:polymorphisms:cds:HLA-B*46 (human)
DNA:polymorphisms:cds:HLA-B39 (human)
DNA:polymorphisms:cds:HLA-B8 (human)
DNA:polymorphisms, haplotype:cds:HLA-B8 (human)
DNA:polymorphisms, haplotype:cds:HLA-B*5801 (human)
RGD PMID:23329888, PMID:8894996, PMID:2401095, PMID:8096501, PMID:12694583 RGD:7365094, RGD:7365110, RGD:7365118, RGD:7365112, RGD:7365098
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human)
DNA:polymorphism: :HLA-DRB1*0301(human)
DNA:polymorphism: :HLA-DRB1*03(human)
RGD PMID:21307958, PMID:11263477, PMID:15219383 RGD:7365065, RGD:7365089, RGD:7365073 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpine1 serpin family E member 1 treatment ISO protein:increased expression:tears (human) RGD PMID:11980614, PMID:22385289 RGD:8547709, RGD:8547756 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tg thyroglobulin treatment
no_association
ISO protein:increased expression:serum
DNA:SNP:exon
DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)
DNA:SNPs:exon:multiple
RGD PMID:14636875, PMID:95586, PMID:17550957, PMID:22662162, PMID:18656705 RGD:8548606, RGD:8548645, RGD:8548644, RGD:8548643, RGD:8548630 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human)
DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)
DNA:polymorphism: :-863A>C
RGD PMID:15219383, PMID:19732761, PMID:17348243 RGD:7365073, RGD:7394807, RGD:7394790 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tshr thyroid stimulating hormone receptor no_association
treatment
ISO DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human)
DNA:polymorphism: :pD727E (human)
DNA:SNPs: :multiple
DNA:SNPs:intron:rs179247, rs12101255 (human)
CTD
OMIM
PMID:1955520, PMID:21841780, PMID:21642385, PMID:9528975, PMID:21155717, PMID:24518168, PMID:7828357, PMID:11887032, PMID:23538203, PMID:19244275, PMID:21124799 RGD:8548654, RGD:8548669, RGD:8548665, RGD:8548664, RGD:8548663, RGD:8548661, RGD:8548657, RGD:8548656, RGD:8548655 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Tshr-ps1 thyroid stimulating hormone receptor, pseudogene 1 ISO RGD PMID:23538203 RGD:8548657 NCBI chr 4:93,447,412...93,448,194 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Graves disease ClinVar PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs: :rs731236, rs7975232 (human)
DNA:SNPs: :rs1544410, rs10735810 (human)
DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs2228570 (human)
DNA:SNPs: :rs1544410, rs7975232 (human)
DNA:polymorphisms, haplotype
GAD
RGD
PMID:15118671, PMID:16279845, PMID:16279845, PMID:17506475, PMID:11134121, PMID:11134121, PMID:16100768 RGD:1331525, RGD:8158053, RGD:8158053, RGD:8157632, RGD:8157628, RGD:8157628, RGD:8157624 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) RGD PMID:22771446 RGD:7483621 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Hashimoto Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Hashimoto Disease
DNA:SNP:cds:+49A/G (rs231775)(human)
OMIM
ClinVar
PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532, PMID:18752454 RGD:7421513 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) RGD PMID:15242568 RGD:8662824 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16372246, PMID:21235536 RGD:7829719 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms (human)
associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human)
RGD PMID:19254248, PMID:8157715 RGD:5147613, RGD:7483569 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hashimoto Disease ClinVar PMID:16940, PMID:16084090, PMID:16380615, PMID:16940308, PMID:17033962, PMID:17483490, PMID:18171678, PMID:18414213, PMID:22473935, PMID:23553787, PMID:23826317, PMID:24195946, PMID:25637381, PMID:25741868, PMID:28357410, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tg thyroglobulin no_association ISO
IDA
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:multiple
CTD PMID:30373627, PMID:14636875, PMID:3052944, PMID:18656705, PMID:21559421 RGD:8548606, RGD:8548647, RGD:8548630, RGD:8548607 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:19471859, PMID:28492532, PMID:30443250 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Foxp3 forkhead box P3 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
ClinVar Annotator: match by OMIM:304790
ClinVar
CTD
OMIM
PMID:10706361, PMID:11120765, PMID:11137992, PMID:11137993, PMID:11295725, PMID:12161590, PMID:14671208, PMID:15096376, PMID:16741580, PMID:16920951, PMID:17635943, PMID:18414213, PMID:18931102, PMID:18951619, PMID:19471859, PMID:20650610, PMID:21036387, PMID:24033266, PMID:24250806, PMID:24258212, PMID:24982679, PMID:25326164, PMID:25741868, PMID:25911531, PMID:26661331, PMID:27783946, PMID:28492532, PMID:28778586, PMID:28783662, PMID:29896738, PMID:30443250, PMID:11137992 RGD:1598959 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
Mauriac Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Mauriac syndrome ClinVar PMID:27207549 NCBI chr 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052
JBrowse link
type 1 diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18025464 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Ace angiotensin I converting enzyme disease progression ISO protein:increased activity:serum (human)
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD PMID:1336356, PMID:9025006 RGD:7829770, RGD:7829799 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:2658981 RGD:2312438 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Acp1 acid phosphatase 1 onset ISO RGD PMID:15586390, PMID:11912546 RGD:2313182, RGD:2313186 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb1 adrenoceptor beta 1 IEP RGD PMID:21491159 RGD:6893642 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO DNA:SNP, haplotype: :557G>A (p.G82S) (human)
DNA:SNP:promoter:-374T>A (human)
protein:decreased expression:serum (human)
protein:increased expression:renal cortex (mouse)
RGD PMID:18420491, PMID:10553500, PMID:16969646, PMID:21870072, PMID:21738623 RGD:2325657, RGD:8695961, RGD:8695958, RGD:7244183, RGD:7243937 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Aif1 allograft inflammatory factor 1 onset IDA
ISO
DNA:polymorphism:intron:rs2259571 (human) RGD PMID:9391121, PMID:18987644 RGD:2313043, RGD:2313199 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO RGD PMID:12706323 RGD:2311151 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:19171731, PMID:1579407 RGD:2313980, RGD:2313972 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO
IMP
DNA:polymorphisms: :multiple RGD PMID:1579407, PMID:21670290, PMID:16505251 RGD:2313972, RGD:7207205, RGD:2306765 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:urine (human) GAD
RGD
PMID:15118671, PMID:22678621 RGD:1331525, RGD:6903197 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Apom apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073
JBrowse link
G Arntl2 aryl hydrocarbon receptor nuclear translocator-like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr 4:181,103,774...181,158,415
Ensembl chr 4:181,103,774...181,214,994
JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:11572996, PMID:15446308 RGD:2311238, RGD:2311235 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24342660 RGD:9684973 NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G Bche butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:plasma
protein:increased expression:serum:
RGD PMID:21041817, PMID:9850345 RGD:7207232, RGD:7207419 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Btc betacellulin susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 7:119,746,150...119,752,727
Ensembl chr 7:119,746,118...119,753,290
JBrowse link
G C3 complement C3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Casp12 caspase 12 IEP
ISO
protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism
CTD PMID:23499715, PMID:15855338 RGD:2311451 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 ISO RGD PMID:17880769, PMID:14617576 RGD:2311245, RGD:2311322 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cblb Cbl proto-oncogene B no_association
susceptibility
ISO
IDA
IAGP
DNA:SNP:exon:rs3772534 (human)
DNA:nonsense mutation (rat)
DNA:missense mutations: :multiple (human)
DNA:SNPs: :multiple (human)
RGD PMID:17209142, PMID:12118252, PMID:12118252, PMID:18201552, PMID:15629882, PMID:14961073 RGD:2314039, RGD:625457, RGD:625457, RGD:2314037, RGD:2314040, RGD:2314041 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 onset ISO protein:increased expression:serum
mRNA:increased expression:pancreatic islet (mouse)
RGD PMID:19092169, PMID:11317664 RGD:2306983, RGD:8549575 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 no_association ISO DNA:polymorphism
DNA:polymorphism: :p.V64I (human)
RGD PMID:12770795, PMID:10400139 RGD:2313562, RGD:2313564
G Ccr5 C-C motif chemokine receptor 5 no_association ISO
IEP
protein:decreased expression:blood, mononuclear cell
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
mRNA:increased expression:splenocyte (rat)
RGD PMID:12145160, PMID:23773920, PMID:15240727 RGD:2317571, RGD:8551818, RGD:4890459 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd14 CD14 molecule ISO protein:increased expression:monocyte RGD PMID:14614560, PMID:10831941 RGD:2314173, RGD:2314175 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd28 Cd28 molecule onset ISO DNA:polymorphism:intron (human)
protein:decreased expression:T cell
RGD PMID:11685455, PMID:15504310, PMID:9410902 RGD:2307199, RGD:2307197, RGD:2307201 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd38 CD38 molecule disease_progression ISO
ISS
OMIM:222100 MouseDO PMID:16459468, PMID:12488956, PMID:16920929 RGD:2307230, RGD:2307231, RGD:2307229 NCBI chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO
IMP
protein:increased expression:serum RGD PMID:16505242, PMID:26716812, PMID:12419284, PMID:16611325, PMID:15448088 RGD:2314212, RGD:11344963, RGD:8547798, RGD:5491182, RGD:2314220 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 4:163,041,147...163,049,065
Ensembl chr 4:163,041,141...163,049,084
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:19658094 RGD:5132624 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cd86 CD86 molecule onset ISO human gene in mouse model
protein:increased expression:dendritic cell
protein:decreased expression:dendritic cells
protein:decreased expression:macrophage,dendritic cell,T cell
RGD PMID:17947667, PMID:12742378, PMID:18316361, PMID:10679081, PMID:15356107, PMID:16232222 RGD:4892258, RGD:2313920, RGD:2313906, RGD:2313927, RGD:2313917, RGD:2313911 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO
ISS
OMIM:222100 MouseDO PMID:10319860 RGD:2314613 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1
protein:increased activity:serum
ClinVar PMID:18414213, PMID:25741868, PMID:10580419, PMID:9536927 RGD:2313967, RGD:2313969 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Cfb complement factor B ISO protein:increased expression:serum
DNA:polymorphism
RGD PMID:3907907, PMID:19000152 RGD:2311338, RGD:2311335 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs725613 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs2903692A (human)
CTD PMID:17632545, PMID:18946483, PMID:18946483, PMID:19221398 RGD:2313978, RGD:5491176 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20012460, PMID:17603912 RGD:2314682 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD PMID:20012460, PMID:22864910, PMID:20012460 RGD:6906966, RGD:8547537 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNP:promoter:-1661A>G (human)
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human)
RGD PMID:16671945, PMID:9259273, PMID:18443194, PMID:8817351 RGD:2301995, RGD:1300385, RGD:2301974, RGD:2301958 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctsb cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsh cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Ctsl cathepsin L susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO
IMP
protein:increased expression:serum RGD PMID:16148094, PMID:19046227, PMID:16339582 RGD:2311363, RGD:2311358, RGD:2311362 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 onset
no_association
ISO DNA:polymorphism:3' utr (human)
mRNA:increased expression:bone marrow
RGD PMID:11334429, PMID:14522095, PMID:14679085, PMID:12383202, PMID:18793419 RGD:2306563, RGD:2306560, RGD:2306561, RGD:2306562, RGD:2301942 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 susceptibility ISO DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)
DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
RGD PMID:17223345, PMID:17606874 RGD:2307312, RGD:2307311 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 susceptibility ISO DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) RGD PMID:17607662 RGD:2315692 NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Ddx39b DExD-box helicase 39B ISO RGD PMID:11756005 RGD:13702905 NCBI chr20:4,806,103...4,818,600
Ensembl chr20:4,806,108...4,818,568
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Dock8 dedicator of cytokinesis 8 IAGP RGD PMID:26363782 RGD:11532657 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Dock8m1Ztm dedicator of cytokinesis 8;mutant 1, Ztm IAGP RGD PMID:26363782 RGD:11532657
G Dpp4 dipeptidylpeptidase 4 ISO RGD PMID:19073764 RGD:2313702 NCBI chr 3:48,291,055...48,372,672
Ensembl chr 3:48,291,055...48,372,672
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:7485483 RGD:2298693 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G E2f1 E2F transcription factor 1 ISO
ISS
E2f1/E2f2 double knockout
OMIM:222100
MouseDO PMID:15146237 RGD:1300306 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G E2f2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 5:154,516,611...154,540,228
Ensembl chr 5:154,522,119...154,540,265
JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egfr epidermal growth factor receptor IEP protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO DNA:polymorphism (human) RGD PMID:1982251, PMID:1686010 RGD:2313850, RGD:2313901 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
JBrowse link
G F7 coagulation factor VII ISO protein:increased activity, expression:plasma (human)
associated with Kidney Failure; protein:increased expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)
RGD PMID:11297753, PMID:15860378, PMID:9686915, PMID:11146704 RGD:2312384, RGD:2312383, RGD:2312389, RGD:2312385 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:insulin-secreting cells RGD PMID:9254659, PMID:19120316 RGD:2315754, RGD:2315742 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO
ISS
IDA
protein:increased expression:lymphocyte
OMIM:222100
mRNA:decreased expression:lymphocyte
MouseDO PMID:19120316, PMID:17324464, PMID:16180659 RGD:2315742, RGD:2315748, RGD:2315751 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:17617565 RGD:5508453 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Foxo1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO associated with Autoimmune Diseases;DNA:mutations: :multiple (human)
ClinVar Annotator: match by OMIM:222100
ClinVar PMID:25741868, PMID:11137992 RGD:1598959 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
JBrowse link
G G6pc2 glucose-6-phosphatase catalytic subunit 2 ISS OMIM:222100 MouseDO NCBI chr 3:55,464,528...55,467,170 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gad2 glutamate decarboxylase 2 susceptibility
onset
ISO
ISS
OMIM:222100 MouseDO PMID:19085183, PMID:19741189, PMID:19188044, PMID:18005036 RGD:2313294, RGD:2313289, RGD:2313292, RGD:2313296 NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
JBrowse link
G Gal galanin and GMAP prepropeptide IEP
ISO
mRNA, protein:increased expression:celiac ganglion
protein:increased expression:plasma
RGD PMID:16487586, PMID:16060906 RGD:1624331, RGD:2313736 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link
G Gc GC, vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gh1 growth hormone 1 ISO
IDA
protein:increased expression:serum RGD PMID:3097114, PMID:7298798, PMID:2888037 RGD:2315684, RGD:2315674, RGD:2315685 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor ISO mRNA, protein:decreased expression:kidney, liver RGD PMID:11469393, PMID:12054124 RGD:2307367, RGD:2307366 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339, PMID:12031988 RGD:619544, RGD:633092 NCBI chr 4:78,377,228...78,386,683
Ensembl chr 4:78,378,144...78,385,577
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO RGD PMID:16390810 RGD:2306629 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 IEP mRNA:decreased expression:islets of Langerhans (rat) RGD PMID:23111281 RGD:7794858 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-DEPENDENT, 1
ClinVar Annotator: match by OMIM:222100
OMIM
ClinVar
PMID:8866553, PMID:8945470, PMID:9032114, PMID:9045858, PMID:9075818, PMID:9075819, PMID:9166684, PMID:9313763, PMID:9392505, PMID:9439666, PMID:9754819, PMID:10333057, PMID:10447526, PMID:10585442, PMID:10754480, PMID:11058894, PMID:11296231, PMID:11315851, PMID:11719843, PMID:12050210, PMID:12355088, PMID:12530534, PMID:12574234, PMID:12618559, PMID:15649945, PMID:15928245, PMID:16274290, PMID:16562587, PMID:16917892, PMID:17054605, PMID:17407387, PMID:17440016, PMID:17573900, PMID:17937063, PMID:17989309, PMID:18003757, PMID:18414213, PMID:18672310, PMID:18838325, PMID:19754856, PMID:19929997, PMID:20393147, PMID:21051477, PMID:21170474, PMID:21224407, PMID:21628466, PMID:21696527, PMID:21761282, PMID:22432108, PMID:23139355, PMID:23348805, PMID:23551881, PMID:23607861, PMID:24915262, PMID:25174781, PMID:25414397, PMID:25483937, PMID:25555642, PMID:25741868, PMID:26467025, PMID:27899486, PMID:28492532, PMID:28701371, PMID:29207974, PMID:30155490, PMID:30202817 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hp haptoglobin treatment IEP
ISO
IDA
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:16506275, PMID:20975081, PMID:20853098 RGD:11041804, RGD:11041868 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16616286, PMID:16616286, PMID:11916625 RGD:2308923, RGD:2308924 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Iapp islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417, PMID:19190104 RGD:2313357, RGD:2313356 NCBI chr 4:176,509,863...176,517,903
Ensembl chr 4:176,510,696...176,516,083
JBrowse link
G Ica1 islet cell autoantigen 1 onset ISO mRNA, protein:decreased expression:thymus gland RGD PMID:11751995, PMID:14679103, PMID:8647206 RGD:2311487, RGD:2311486, RGD:2311488 NCBI chr 4:34,635,509...34,780,187
Ensembl chr 4:34,635,506...34,780,193
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO protein:increased expression:plasma RGD PMID:16978373, PMID:19373518 RGD:1625758, RGD:2313468 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:21340626, PMID:18644830, PMID:8977415 RGD:2311493, RGD:10755748 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISS OMIM:222100 MouseDO NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO CTD Direct Evidence: therapeutic CTD PMID:24632065, PMID:19156625, PMID:15356074, PMID:16887362 RGD:2306688, RGD:2313769, RGD:2313765 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 IEP mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO RGD PMID:16887362, PMID:15356074 RGD:2313765, RGD:2313769 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480, PMID:17997340 RGD:2308949 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919, PMID:17670937 RGD:2313577, RGD:2313574 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:small intestine mucosa
mRNA:increased expression:pancreatic islet, leukocyte
RGD PMID:2405400, PMID:17953531, PMID:12941768, PMID:8612552 RGD:2311075, RGD:2311064, RGD:2311065, RGD:2311067 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:peripheral blood, leukocyte (human) RGD PMID:21848584, PMID:1797022 RGD:7175335, RGD:7401233 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO
ISS
protein:decreased expression:pancreatic islet
OMIM:222100
DNA:polymorphism
DNA:SNP (human)
MouseDO PMID:7835294, PMID:8911996, PMID:11197691 RGD:2311068, RGD:6892703, RGD:2311106 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human)
mouse model treated with human protein
RGD PMID:9112337, PMID:9158104 RGD:6907403, RGD:6907407 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 onset ISO RGD PMID:17670937, PMID:3514237 RGD:2313574, RGD:10047089 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha onset ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
CTD PMID:17676041, PMID:19119414, PMID:19701192, PMID:30224649, PMID:19119414, PMID:19106270 RGD:2311527, RGD:2311528 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4 interleukin 4 ISS OMIM:222100 MouseDO NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-174G>C (human)
protein:increased expression:serum:
protein:increased expression:extracellular space (mouse)
protein:increased expression:extracellular space (human)
OMIM PMID:19127455, PMID:17725274, PMID:16960101, PMID:19382103 RGD:2307275, RGD:7829749, RGD:2307279, RGD:2307193 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic
CTD PMID:17151334, PMID:20620209, PMID:29420703, PMID:18824271 RGD:2311114 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISS OMIM:222100 MouseDO NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO OMIM NCBI chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12524280, PMID:15115830, PMID:15448106, PMID:15448107, PMID:15531505, PMID:15580558, PMID:15583126, PMID:15718250, PMID:15838686, PMID:16087682, PMID:16205880, PMID:16339180, PMID:16602010, PMID:16609879, PMID:16636122, PMID:16670688, PMID:16731837, PMID:16816952, PMID:16885550, PMID:17021801, PMID:17065345, PMID:17213273, PMID:17327377, PMID:17475937, PMID:17490422, PMID:17491708, PMID:17635943, PMID:17901525, PMID:18025464, PMID:18414213, PMID:18548275, PMID:18662362, PMID:18924582, PMID:19065048, PMID:19247925, PMID:19345438, PMID:20220270, PMID:20466780, PMID:21352428, PMID:23434183, PMID:23462667, PMID:23959658, PMID:25308342, PMID:26467025, PMID:26839896, PMID:28460053, PMID:28480665 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Klrk1 killer cell lectin like receptor K1 disease_progression ISO associated with lymphocytic choriomeningitis RGD PMID:22944096 RGD:38676492 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Lgals3 galectin 3 IEP RGD PMID:16600178 RGD:9685204 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Lipc lipase C, hepatic type ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lta lymphotoxin alpha onset
treatment
susceptibility
ISO protein:decreased expression:mononuclear cell
DNA:polymorphism: :252A>G (human)
DNA:SNP (human)
DNA:polymorphism: :249A>G (human)
RGD PMID:9342542, PMID:8242903, PMID:12622777, PMID:19120272, PMID:11141334, PMID:17989340 RGD:2313264, RGD:8548842, RGD:2313262, RGD:2313253, RGD:2313263, RGD:2313257 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:9313747, PMID:17827401 RGD:2311545, RGD:2311544 NCBI chr 7:12,918,352...12,922,509
Ensembl chr 7:12,918,710...12,922,112
JBrowse link
G Mbl2 mannose binding lectin 2 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir146a microRNA 146a susceptibility ISO DNA:SNP: :rs2910164 (human) RGD PMID:28101643 RGD:24922224 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
JBrowse link
G Mir155 microRNA 155 susceptibility ISO DNA:SNP: :rs767649 (human) RGD PMID:28101643 RGD:24922224 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 susceptibility ISO DNA:transversion: :m.7778G>T (mouse) RGD PMID:19759059 RGD:5490297 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Ncam1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Neurod1 neuronal differentiation 1 no_association ISO DNA:polymorphism: :p.A45T (human)
DNA:polymorphism:exon
RGD PMID:15047635, PMID:16357810, PMID:16909454 RGD:2313487, RGD:2313483, RGD:2313481 NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
JBrowse link
G Nog noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 ISO
ISS
OMIM:222100 MouseDO PMID:19535454 RGD:2313214 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch4 notch receptor 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Pax4 paired box 4 susceptibility ISO DNA:polymorphism: :p.R133W (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15509590, PMID:15834548 RGD:2311634, RGD:2311633 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO
ISS
OMIM:222100 MouseDO PMID:17383157 RGD:2311310 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:14652638 RGD:2311676 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppbp pro-platelet basic protein ISO RGD PMID:14730686 RGD:1625598 NCBI chr14:18,852,433...18,853,237
Ensembl chr14:18,851,954...18,853,315
JBrowse link
G Prf1 perforin 1 ISS OMIM:222100 MouseDO NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Prrc2a proline-rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:10987645, PMID:15842729 RGD:2306964, RGD:2306963 NCBI chr20:5,139,881...5,155,371
Ensembl chr20:5,139,882...5,155,293
JBrowse link
G Prss1 serine protease 1 IEP protein:increased expression:serum RGD PMID:3833185 RGD:1599966 NCBI chr 4:70,776,046...70,779,249
Ensembl chr 4:70,776,046...70,779,249
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO GAD PMID:15118671 RGD:1331525 NCBI chr20:3,990,809...3,993,772
Ensembl chr20:3,990,613...3,993,769
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Pth parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility
onset
ISO
IAGP
DNA:snp: cds: 1858C>T
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.R620W (rs2476601) (human)
DNA:missense mutation:cds:p.A629T (rat)
CTD
OMIM
PMID:21190368, PMID:30224649, PMID:15004560, PMID:20176734, PMID:25505293, PMID:25513733, PMID:21873553 RGD:6484524, RGD:11533996, RGD:9835029, RGD:11532754, RGD:6484692 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO
IDA
RGD PMID:19741189, PMID:7568143 RGD:2313289, RGD:729710 NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
JBrowse link
G Ptprn2 protein tyrosine phosphatase, receptor type N2 ISO
ISS
OMIM:222100 MouseDO PMID:12419281, PMID:18193190 RGD:2311684, RGD:2311682 NCBI chr 6:144,384,773...145,133,042
Ensembl chr 6:144,384,773...145,133,042
JBrowse link
G Ran RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr12:31,319,556...31,324,105
Ensembl chr12:31,320,624...31,323,810
JBrowse link
G Reg1a regenerating family member 1 alpha ISO human protein in a mouse model RGD PMID:9564847 RGD:9850125 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
G Retn resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G RT1-Ba RT1 class II, locus Ba onset
susceptibility
ISO DNA:polymorphisms: :multiple
CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)
CTD PMID:26168013, PMID:12021143, PMID:16731854, PMID:18769865, PMID:17728790 RGD:2301817, RGD:2301812, RGD:2301811, RGD:5147626 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility
onset
ISO DNA:polymorphisms, haplotypes:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
associated with Sclerosing Lymphocytic Lobulitis
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)
OMIM
CTD
PMID:26168013, PMID:20858521, PMID:28247576, PMID:10562813, PMID:17728790, PMID:20510319 RGD:5147569, RGD:14865008, RGD:11041764, RGD:5147626, RGD:5147575 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:11812739 RGD:5490164 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)
CTD PMID:26168013, PMID:12270547, PMID:20510319, PMID:20858521 RGD:2314698, RGD:5147575, RGD:5147569 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:7576003 RGD:6480651 NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
JBrowse link
G Sele selectin E ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Sell selectin L ISS OMIM:222100 MouseDO NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Senp1 SUMO specific peptidase 1 ISS OMIM:222100 MouseDO NCBI chr 7:139,626,444...139,684,587
Ensembl chr 7:139,630,515...139,675,245
JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224649 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:SNP:intron:rs3731865 (human)
DNA:polymorphism: :274C>T (human)
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16597321, PMID:21524304, PMID:19768110, PMID:16550170, PMID:15877293 RGD:5684926, RGD:5684932, RGD:5684950, RGD:5684955 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc18a2 solute carrier family 18 member A2 IDA
ISO
protein:decreased expression:pancreas (human) RGD PMID:16710474, PMID:19223416 RGD:2317333, RGD:5131199 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477, PMID:20140240 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
G Sod1 superoxide dismutase 1 ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISS OMIM:222100 MouseDO NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:insertion:intron (human)
DNA:polymorphisms (human)
DNA:mutation:promoter (mouse)
RGD PMID:9458110, PMID:9129974, PMID:9300732 RGD:2312369, RGD:2312371, RGD:2312370 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:1300236, PMID:17192492 RGD:2312373, RGD:2312368 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tbp TATA box binding protein susceptibility
no_association
ISO DNA:repeat:cds:g.172(CAG/CAA)38 (human) RGD PMID:15381080, PMID:15850778 RGD:5684348, RGD:5684349 NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
G Tf transferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thbd thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tlr2 toll-like receptor 2 no_association ISO DNA:SNP: :1350T>C (human)
protein:increased expression:monocyte
DNA:SNP: :rs3804100 (human)
RGD PMID:17130564, PMID:17707128, PMID:18029454, PMID:19148143, PMID:15699513 RGD:2312687, RGD:2312684, RGD:2312683, RGD:2312679, RGD:2312686 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) RGD PMID:16029432 RGD:5129476 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:monocyte RGD PMID:18029454, PMID:16728431 RGD:2312683, RGD:2312492 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23640034, PMID:19120272 RGD:2313253 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO RGD PMID:12882912, PMID:18057577 RGD:2312743, RGD:2312740 NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:222100 MouseDO NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Virus-induced diabetes
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26288847, PMID:30224649 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA, protein:increased expression:liver RGD PMID:9841869 RGD:1600450 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Kidney Failure, Chronic;protein:increased expression:artery: RGD PMID:22210567 RGD:7241034 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Vwf von Willebrand factor IEP RGD PMID:10729383 RGD:13673887 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein no_association ISO DNA:missense mutation: :p.R456H (human)
DNA:mutations:exons, 5' utr, 3' utr:multiple
RGD PMID:15056606, PMID:10679252, PMID:15008830 RGD:8694393, RGD:8694402, RGD:8694396 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
G Xylt1 xylosyltransferase 1 ISO DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) RGD PMID:16759312 RGD:2313136 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
G Yy1 YY1 transcription factor treatment IAGP
IEP
DNA:SNPs:intron RGD PMID:15234341, PMID:15619288 RGD:9588271, RGD:9588274 NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
JBrowse link
type 1 diabetes mellitus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2ra interleukin 2 receptor subunit alpha susceptibility ISO ClinVar Annotator: match by OMIM:601942
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 10
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17676041, PMID:25741868, PMID:28492532 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
type 1 diabetes mellitus 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 12 OMIM
ClinVar
PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
type 1 diabetes mellitus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISS OMIM:125852 MouseDO NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2 ClinVar PMID:17855560, PMID:18192540, PMID:18414213 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by OMIM:125852
DNA:missense mutation:cds:p.C96Y (mouse)
ClinVar
OMIM
PMID:17855560, PMID:18192540, PMID:18414213, PMID:17911348 RGD:14401710 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
type 1 diabetes mellitus 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 20
ClinVar Annotator: match by OMIM:612520
OMIM
ClinVar
PMID:8866553, PMID:8945470, PMID:9032114, PMID:9045858, PMID:9075818, PMID:9166684, PMID:9313763, PMID:9392505, PMID:9439666, PMID:10333057, PMID:10447526, PMID:10585442, PMID:10754480, PMID:11058894, PMID:11315851, PMID:11463573, PMID:11668618, PMID:12050210, PMID:12355088, PMID:12453976, PMID:12530534, PMID:12574234, PMID:12618559, PMID:12627330, PMID:15114102, PMID:15649945, PMID:15726414, PMID:15928245, PMID:17054605, PMID:17407387, PMID:17440016, PMID:17573900, PMID:17937063, PMID:17989309, PMID:18414213, PMID:18672310, PMID:19150152, PMID:21051477, PMID:21224407, PMID:21395678, PMID:21628466, PMID:21648289, PMID:23551881, PMID:23607861, PMID:23610083, PMID:25174781, PMID:25741868, PMID:26431509, PMID:26467025, PMID:29207974 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
type 1 diabetes mellitus 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tagap T-cell activation RhoGTPase activating protein ISO OMIM NCBI chr 1:47,493,990...47,503,492
Ensembl chr 1:47,493,994...47,502,952
JBrowse link
type 1 diabetes mellitus 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 C-C motif chemokine receptor 5 ISO OMIM NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumo4 small ubiquitin-like modifier 4 ISO ClinVar Annotator: match by OMIM:600320 OMIM
ClinVar
PMID:15123604, PMID:15247916, PMID:15678134, PMID:15678135, PMID:15678137 NCBI chr 5:14,983,382...14,984,134
Ensembl chr 5:14,983,371...14,984,364
JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by null ClinVar PMID:15123604, PMID:15247916, PMID:15678134, PMID:15678135, PMID:15678137 NCBI chr 1:1,999,574...2,017,574
Ensembl chr 1:1,999,596...2,073,896
JBrowse link
type 1 diabetes mellitus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod1 neuronal differentiation 1 ISS OMIM:600321 MouseDO NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
JBrowse link
Wolcott-Rallison syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
ClinVar Annotator: match by OMIM:226980
ClinVar
OMIM
PMID:7551159, PMID:10932183, PMID:12960215, PMID:16813601, PMID:25741868, PMID:26380986, PMID:28492532, PMID:10932183 RGD:734923 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by OMIM:222300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18544103, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:29529044, PMID:30014265, PMID:30311386, PMID:9771706 RGD:1599813 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 OMIM
ClinVar
PMID:10679252, PMID:10760554, PMID:11161832, PMID:11317350, PMID:12107816, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:17492394, PMID:17517145, PMID:18414213, PMID:18544103, PMID:20738327, PMID:21446023, PMID:21602428, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23990876, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:27185633, PMID:28492532 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
CTD
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        autoimmune disease of endocrine system 371
          Graves' disease + 65
          Hirata disease 0
          autoimmune pancreatitis 1
          autoimmune polyendocrine syndrome + 22
          autoimmune thyroiditis + 38
          type 1 diabetes mellitus + 305
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          primary immunodeficiency disease 2346
            autoimmune disease 1666
              autoimmune disease of endocrine system 371
                Graves' disease + 65
                Hirata disease 0
                autoimmune pancreatitis 1
                autoimmune polyendocrine syndrome + 22
                autoimmune thyroiditis + 38
                type 1 diabetes mellitus + 305
paths to the root

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