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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)



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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:27102614 PMID:27577878 PMID:28492532 More... NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
autoimmune pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) RGD PMID:18155707 RGD:5147621 NCBI chr12:2,305,307...2,307,711 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 CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9921903 PMID:16982213 PMID:29959280 RGD:1599008 RGD:38599145 NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:16254435 RGD:5147646 NCBI chr12:2,305,307...2,307,711 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*0405, HLA-DRB1*0802 (human) RGD PMID:16254435 RGD:5147646 NCBI chr12:2,151,409...2,164,564 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: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 OMIM
ClinVar
PMID:1836330 PMID:2943776 PMID:6031738 PMID:9398839 PMID:9398840 More... NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296
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 chr31:38,183,181...38,192,739
Ensembl chr31:38,183,188...38,196,113
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,099,100...38,111,432 JBrowse link
G GHRH growth hormone releasing hormone ISO RGD PMID:22506635 RGD:10401267 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,084,861...38,094,743 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
JBrowse link
G LOC100685322 keratin-associated protein 2-3-like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr 9:21,616,121...21,616,992 JBrowse link
G LOC100855886 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,396,048...38,396,735 JBrowse link
G LOC102151833 keratin-associated protein 10-7-like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,306,220...38,307,536 JBrowse link
G LOC610875 keratin-associated protein 10-8 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:36,034,027...36,035,010 JBrowse link
G LOC610882 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:36,039,505...36,040,735 JBrowse link
G LOC610887 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:36,042,743...36,043,443 JBrowse link
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,260,952...38,265,951
Ensembl chr31:38,261,199...38,261,972
JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507
JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,494,608...38,513,997 JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,472,076...38,484,358 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 chr31:38,201,075...38,224,076 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 chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373
JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr31:38,432,855...38,470,202
Ensembl chr31:38,433,332...38,470,136
JBrowse link
autoimmune polyendocrine syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human) RGD PMID:21388354 RGD:5147565 NCBI chr12:2,305,307...2,307,711 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*15 (human) RGD PMID:21388354 RGD:5147565 NCBI chr12:2,151,409...2,164,564 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 chr32:23,322,654...23,603,233
Ensembl chr32:23,323,122...23,602,383
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar Annotator: match by term: Hashimoto thyroiditis
RGD
ClinVar
PMID:14986169 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 More... RGD:7421515 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) RGD PMID:20825955 RGD:5147571 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA-DRA MHC class II DR alpha chain ISO RGD PMID:12126634 RGD:5147805 NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
JBrowse link
G FCRL3 Fc receptor like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 7:40,599,319...40,625,939 JBrowse link
G GJA1 gap junction protein alpha 1 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G GJB2 gap junction protein beta 2 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO DNA:polymorphism (human) RGD PMID:12126634 PMID:20825955 PMID:21683551 RGD:5147557 RGD:5147571 RGD:5147805 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9892610 RGD:8142396 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
JBrowse link
G MBL1 mannose binding lectin 1 susceptibility ISO DNA:polymorphism:exon:
associated with hepatitis C;DNA:SNP:exon:
RGD PMID:19703233 PMID:22360648 RGD:14696815 RGD:8693703 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G SLA Src like adaptor ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 ClinVar PMID:25741868 NCBI chr13:29,503,304...29,590,679
Ensembl chr13:29,504,867...29,569,773
JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 ClinVar
OMIM
PMID:8325944 PMID:9588493 PMID:10403171 PMID:10404833 PMID:11484898 More... NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040
JBrowse link
G TLR3 toll like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TSHR thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898
JBrowse link
G ZFAT zinc finger and AT-hook domain containing susceptibility ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 OMIM
ClinVar
PMID:11440990 PMID:15294872 PMID:25741868 PMID:28940097 NCBI chr13:30,649,971...30,842,941
Ensembl chr13:30,650,654...30,841,543
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 OMIM
ClinVar
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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:15158621 PMID:20394549 RGD:9071200 RGD:9086875 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 severity
no_association
ISO protein:increased expression:serum:
associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)
RGD PMID:16893393 PMID:19734241 PMID:22663548 RGD:7421511 RGD:7421521 RGD:7421523 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNG interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum
RGD PMID:11753760 PMID:21067483 RGD:7364859 RGD:7365083 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility
severity
ISO DNA:snp:exon:11100 C>T (rs315952) (human)
protein:increased expression:serum (human)
RGD PMID:12186498 PMID:19702713 RGD:7387296 RGD:8549808 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL23R interleukin 23 receptor no_association
susceptibility
ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)
RGD PMID:18073300 PMID:22663548 RGD:7421521 RGD:8549554 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
JBrowse link
G IL3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668
JBrowse link
G KIF1A kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G SCD stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr28:13,112,741...13,129,129
Ensembl chr28:13,113,006...13,125,801
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 chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-863C>A (human)
DNA:SNP:promoter:-238G>A (rs361525) (human)
RGD PMID:8444271 PMID:15219383 PMID:16191343 RGD:12904066 RGD:7365073 RGD:7794734 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TSHR thyroid stimulating hormone receptor severity ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs179247 (human)
CTD
RGD
PMID:20237164 PMID:22673349 PMID:31705858 RGD:8548662 RGD:8548673 NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898
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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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 chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364
JBrowse link
G B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr10:62,170,262...62,239,010
Ensembl chr10:62,145,117...62,146,310
Ensembl chr10:62,145,117...62,146,310
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BTNL2 butyrophilin like 2 onset ISO DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124
JBrowse link
G CAT catalase treatment ISO protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CD4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771
JBrowse link
G CD40 CD40 molecule onset
no_association
ISO DNA:SNP
DNA:SNP:5' utr:-1C>T (human)
RGD PMID:12593727 PMID:15307939 PMID:18755875 RGD:8547766 RGD:8547769 RGD:8547778 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:8875745 RGD:8547747 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)
DNA:SNP:promoter:-318C>T (human)
DNA:polymorphism:exon:49G>A(human)
DNA:SNP: :rs231779(human)
DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)
DNA:SNP: :-318C>T(rs11571302)(human)
CTD
RGD
PMID:9672157 PMID:9861324 PMID:10369864 PMID:10404810 PMID:12780750 More... RGD:11352245 RGD:1300388 RGD:2302000 RGD:2302001 RGD:7421505 RGD:7421507 RGD:7421515 RGD:7421517 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 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 chr12:2,305,307...2,307,711 JBrowse link
G DLA88 MHC class I DLA-88 onset
susceptibility
ISO DNA:polymorphism:cds:HLA-B8 (human)
DNA:polymorphism:cds:HLA-B*46 (human)
DNA:polymorphism, haplotype:cds:HLA-B*5801 (human)
DNA:polymorphism:cds:HLA-B39 (human)
DNA:polymorphism, haplotype:cds:HLA-B8 (human)
RGD PMID:2401095 PMID:8096501 PMID:8894996 PMID:12694583 PMID:23329888 RGD:7365094 RGD:7365098 RGD:7365110 RGD:7365112 RGD:7365118 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690
JBrowse link
G DNMT1 DNA methyltransferase 1 treatment ISO DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G ESR2 estrogen receptor 2 susceptibility
no_association
ISO DNA:snp:intron:IVS8G>A (rs4986938) (human)
DNA:repeat
RGD PMID:11180758 PMID:17941906 RGD:10045850 RGD:8693348 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FCRL3 Fc receptor like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 7:40,599,319...40,625,939 JBrowse link
G FKBP1B FKBP prolyl isomerase 1B ISO RGD PMID:15497458 RGD:1580387 NCBI chr17:18,534,295...18,544,973
Ensembl chr17:18,534,741...18,544,943
JBrowse link
G GC GC vitamin D binding protein susceptibility ISO DNA:repeats:intron
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.T420K(human)
RGD
CTD
PMID:12050214 PMID:16868893 RGD:5509883 RGD:5509886 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain 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:11263477 PMID:15219383 PMID:21307958 RGD:7365065 RGD:7365073 RGD:7365089 NCBI chr12:2,151,409...2,164,564 JBrowse link
G ICAM1 intercellular adhesion molecule 1 no_association
onset
ISO DNA:SNP: :p.K469E (rs5498) (human)
protein:increased expression:blood, lymphocyte
DNA:polymorphism: :c.721G>A (human)
RGD PMID:12357047 PMID:14557478 PMID:17873320 RGD:8158121 RGD:8158124 RGD:8547702 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
JBrowse link
G IFNG interferon gamma susceptibility
treatment
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
DNA:polymorphism:cds:+874A>T(human)
DNA:repeats:intron:
DNA:microsatellite repeats:intron:
RGD
CTD
PMID:2125901 PMID:9848715 PMID:15068623 PMID:15544617 PMID:16970687 More... RGD:8142372 RGD:8142373 RGD:8142393 RGD:8157599 RGD:8157604 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IL10 interleukin 10 no_association ISO DNA:SNP: :rs1800896 (human)
DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)
DNA:SNPs:promoter:multiple
protein:increased expression:serum
RGD PMID:15497451 PMID:19250272 PMID:19882211 PMID:21424183 RGD:7364858 RGD:7364862 RGD:7365026 RGD:7365074 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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:15483090 PMID:21235536 RGD:7829719 RGD:8549544 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL17A interleukin 17A susceptibility ISO DNA:snp:intron:IVS1+18G>A (rs3819025) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22816799 PMID:33132244 RGD:9068423 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18 interleukin 18 no_association ISO DNA:SNPs:promoter, exon:multiple
protein:increased expression:serum
RGD PMID:12689659 PMID:16571086 RGD:8655878 RGD:8655916 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1B interleukin 1 beta ISO DNA:SNP:promoter:-511C>T (human) RGD PMID:2674184 PMID:16025481 RGD:7401177 RGD:7401207 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:2279527 RGD:8662947 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
JBrowse link
G IL3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-572C>G(human)
RGD
CTD
PMID:12818091 PMID:16372246 PMID:21235536 RGD:7829719 RGD:7829750 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL6R interleukin 6 receptor disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12818091 PMID:16372246 RGD:7829750 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:23109646 RGD:8693341 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
JBrowse link
G LOC481722 complement C4-A ISO RGD PMID:21943165 RGD:5688264 NCBI chr12:1,433,185...1,448,056 JBrowse link
G LTA lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:1346144 PMID:7928443 RGD:8548778 RGD:8548790 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:21465496 RGD:8657376 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G PDCD1 programmed cell death 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human)
DNA: SNP: cds: C1858T
DNA:SNP, haplotype:promoter:-1123G>C (human)
CTD
RGD
PMID:15504986 PMID:17608818 PMID:18687223 PMID:21190368 RGD:6484538 RGD:7829738 RGD:7829763 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G RNASET2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:54,779,453...54,820,697 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 chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
JBrowse link
G TG thyroglobulin treatment
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
DNA:SNP:exon
DNA:SNPs:exon:multiple
DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)
RGD
CTD
PMID:95586 PMID:14636875 PMID:17550957 PMID:18656705 PMID:22662162 More... RGD:8548606 RGD:8548630 RGD:8548643 RGD:8548644 RGD:8548645 NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)
DNA:SNP: :-308G>A(rs1800629)(human)
DNA:polymorphism: :-863A>C
RGD PMID:15219383 PMID:17348243 PMID:19732761 RGD:7365073 RGD:7394790 RGD:7394807 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
G TP53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TPO thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043
JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr17:52,659,137...52,685,388
Ensembl chr17:52,681,357...52,685,390
JBrowse link
G TSHR thyroid stimulating hormone receptor no_association
treatment
ISO DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human)
DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human)
DNA:SNPs:intron:rs179247, rs12101255 (human)
DNA:polymorphism: :pD727E (human)
RGD
CTD
PMID:1955520 PMID:7828357 PMID:9528975 PMID:11887032 PMID:19244275 More... RGD:8548654 RGD:8548655 RGD:8548656 RGD:8548657 RGD:8548661 RGD:8548663 RGD:8548664 RGD:8548665 RGD:8548669 NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898
JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNPs: :rs1544410, rs10735810 (human)
DNA:SNPs: :rs731236, rs7975232 (human)
DNA:SNP: :rs2228570 (human)
DNA:SNPs: :rs1544410, rs7975232 (human)
DNA:polymorphisms, haplotype
DNA:SNP:exon:rs2228570 (human)
RGD PMID:11134121 PMID:16100768 PMID:16279845 PMID:17506475 RGD:8157624 RGD:8157628 RGD:8157632 RGD:8158053 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr32:23,322,654...23,603,233
Ensembl chr32:23,323,122...23,602,383
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
JBrowse link
G CAT catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Hashimoto Disease ClinVar
OMIM
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human)
DNA:polymorphisms (human)
RGD PMID:8157715 PMID:19254248 RGD:5147613 RGD:7483569 NCBI chr12:2,305,307...2,307,711 JBrowse link
G ESR2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr37:7,010,421...7,025,912 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNG interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-572C>G(human)
CTD
RGD
PMID:16372246 PMID:21235536 RGD:7829719 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G MBL1 mannose binding lectin 1 susceptibility ISO DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G TG thyroglobulin no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:multiple
CTD
RGD
PMID:3052944 PMID:14636875 PMID:18656705 PMID:21559421 PMID:30373627 RGD:8548606 RGD:8548607 RGD:8548630 RGD:8548647 NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
G TSHR thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898
JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,935,831...42,946,248
Ensembl chr  X:42,935,815...42,946,149
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,180,082...41,191,579
Ensembl chr  X:41,180,250...41,191,310
JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,765,126...43,771,277
Ensembl chr  X:43,764,777...43,771,287
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,206,553...42,217,607
Ensembl chr  X:42,210,804...42,216,993
JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 NCBI chr  X:42,329,320...42,343,270
Ensembl chr  X:42,328,755...42,343,270
JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,951,030...43,041,616
Ensembl chr  X:42,949,558...43,012,122
JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,810,107...40,822,130
Ensembl chr  X:40,810,500...40,842,700
JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,245,868...41,252,194
Ensembl chr  X:41,245,905...41,251,623
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,041,721...43,229,431
Ensembl chr  X:43,044,242...43,230,590
JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013
JBrowse link
G ELK1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,256,205...41,270,656
Ensembl chr  X:41,257,482...41,270,776
JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,024,867...42,029,649
Ensembl chr  X:42,028,711...42,029,412
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome OMIM
ClinVar
PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More... NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,725,101...41,734,533
Ensembl chr  X:41,725,130...41,734,378
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,967,674...41,979,241
Ensembl chr  X:41,967,812...41,979,243
JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,248,121...42,266,747
Ensembl chr  X:42,248,611...42,257,286
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,121,646...42,145,330
Ensembl chr  X:42,121,301...42,145,218
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427
JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,545,474...40,682,593
Ensembl chr  X:40,521,569...40,680,536
JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,111,817...42,119,939
Ensembl chr  X:42,111,837...42,118,375
JBrowse link
G LOC612524 putative protein SSX6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,676,082...41,687,062 JBrowse link
G LOC612555 MAGI family member, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,267,054...42,269,303
Ensembl chr  X:42,266,715...42,269,300
JBrowse link
G MIR502 microRNA mir-502 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,785,601...42,785,659
Ensembl chr  X:42,785,587...42,785,666
JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,774,680...42,774,738
Ensembl chr  X:42,774,680...42,774,738
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,744,408...40,746,831
Ensembl chr  X:40,744,408...40,746,837
JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,079,396...42,109,129
Ensembl chr  X:42,081,561...42,108,612
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,030,708...42,036,363
Ensembl chr  X:41,962,524...42,036,586
JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,072,495...42,077,741
Ensembl chr  X:42,073,457...42,077,543
JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr 7:66,830,421...66,861,046 JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476
JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,763,126...41,773,892
Ensembl chr  X:41,762,692...41,779,476
JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,362,335...42,378,480
Ensembl chr  X:42,362,370...42,378,012
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,056,660...42,060,508
Ensembl chr  X:42,056,708...42,121,818
JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,218,038...42,221,075
Ensembl chr  X:42,218,046...42,226,422
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,276,316...42,285,428
Ensembl chr  X:42,275,900...42,285,321
JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,746,959...40,776,764
Ensembl chr  X:40,747,178...40,776,742
JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,806,072...41,809,803
Ensembl chr  X:41,806,176...41,809,481
JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,697,292...40,715,491
Ensembl chr  X:40,698,768...40,715,490
JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,366,921...43,639,525
Ensembl chr  X:43,369,472...43,639,302
JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,060,568...42,071,330
Ensembl chr  X:42,052,781...42,071,012
JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,709,441...41,718,702
Ensembl chr  X:41,709,467...41,717,080
JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,240,169...40,389,167
Ensembl chr  X:40,245,654...40,389,423
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,894,623...41,907,854
Ensembl chr  X:41,893,045...41,906,403
JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,191,571...41,241,557
Ensembl chr  X:41,191,571...41,241,640
JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,288,071...42,301,802
Ensembl chr  X:42,288,148...42,299,487
JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,782,774...41,799,083
Ensembl chr  X:41,782,671...41,798,828
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,181,639...42,192,709
Ensembl chr  X:42,183,037...42,193,892
JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,052,592...42,056,601
Ensembl chr  X:42,052,781...42,071,012
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,784,240...40,807,072
Ensembl chr  X:40,783,809...40,807,069
JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,826,648...40,842,700
Ensembl chr  X:40,810,500...40,842,700
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,645,534...42,648,801 JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,271,908...41,280,433
Ensembl chr  X:41,271,908...41,280,340
JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058
JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,818,916...41,825,815
Ensembl chr  X:41,818,950...41,825,811
JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422
JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,952,543...41,005,828
Ensembl chr  X:40,952,636...41,005,133
JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,557,362...41,584,417
Ensembl chr  X:41,558,053...41,652,020
JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,031,507...41,072,759
Ensembl chr  X:41,032,742...41,071,949
JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,640,010...41,652,522
Ensembl chr  X:41,558,053...41,652,020
JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,353,241...41,460,082
Ensembl chr  X:41,353,440...41,593,082
JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,590,329...41,612,133
Ensembl chr  X:41,353,440...41,593,082
JBrowse link
latent autoimmune diabetes in adults term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNP: :49A>G (human) RGD PMID:12021137 RGD:2301997 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385
JBrowse link
Mauriac Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Mauriac syndrome ClinVar PMID:27207549 PMID:28492532 NCBI chr 6:17,418,927...17,428,431
Ensembl chr 6:17,418,926...17,428,359
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACHE acetylcholinesterase ISO RGD PMID:2658981 RGD:2312438 NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
JBrowse link
G ACP1 acid phosphatase 1 onset ISO RGD PMID:11912546 PMID:15586390 RGD:2313182 RGD:2313186 NCBI chr17:243,757...251,151
Ensembl chr17:243,713...250,758
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ADRB1 adrenoceptor beta 1 ISO RGD PMID:21491159 RGD:6893642 NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO DNA:SNP, haplotype: :557G>A (p.G82S) (human)
protein:increased expression:renal cortex (mouse)
protein:decreased expression:serum (human)
DNA:SNP:promoter:-374T>A (human)
RGD PMID:10553500 PMID:16969646 PMID:18420491 PMID:21738623 PMID:21870072 RGD:2325657 RGD:7243937 RGD:7244183 RGD:8695958 RGD:8695961 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AIF1 allograft inflammatory factor 1 onset ISO DNA:polymorphism:intron:rs2259571 (human) RGD PMID:9391121 PMID:18987644 RGD:2313043 RGD:2313199 NCBI chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO RGD PMID:12706323 RGD:2311151 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO protein:increased expression:serum RGD PMID:12466139 RGD:2313825 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOB apolipoprotein B ISO RGD PMID:1579407 PMID:19171731 RGD:2313972 RGD:2313980 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOC3 apolipoprotein C3 susceptibility ISO DNA:polymorphisms: :multiple RGD PMID:1579407 PMID:16505251 PMID:21670290 RGD:2306765 RGD:2313972 RGD:7207205 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E ISO protein:decreased expression:urine (human) RGD PMID:22678621 RGD:6903197 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185
JBrowse link
G APOM apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr12:1,137,474...1,142,337
Ensembl chr12:1,140,316...1,142,331
JBrowse link
G ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr27:20,304,404...20,420,086
Ensembl chr27:20,306,705...20,420,736
JBrowse link
G AVP arginine vasopressin ISO RGD PMID:5692127 PMID:13995944 RGD:2314661 RGD:632128 NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
JBrowse link
G B2M beta-2-microglobulin ISO RGD PMID:11572996 PMID:15446308 RGD:2311235 RGD:2311238 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G B9D2 B9 domain containing 2 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr12:49,101,621...49,375,415
Ensembl chr12:49,106,523...49,460,286
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24342660 RGD:9684973 NCBI chr32:23,322,654...23,603,233
Ensembl chr32:23,323,122...23,602,383
JBrowse link
G BCHE butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:increased expression:serum:
protein:decreased expression:plasma
RGD PMID:9850345 PMID:21041817 RGD:7207232 RGD:7207419 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G BTC betacellulin susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr15:64,133,051...64,159,155
Ensembl chr15:64,135,920...64,158,970
JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr10:27,340,547...27,349,183
Ensembl chr10:27,340,623...27,348,494
JBrowse link
G C26H12orf43 chromosome 26 C12orf43 homolog ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:25741868 NCBI chr26:16,826,481...16,835,832
Ensembl chr26:16,826,489...16,835,796
JBrowse link
G C3 complement C3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CASP12 caspase 12 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:hippocampus
CTD
RGD
PMID:15855338 PMID:23499715 RGD:2311451 NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683
JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:14617576 PMID:17880769 RGD:2311245 RGD:2311322 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
JBrowse link
G CBLB Cbl proto-oncogene B no_association
susceptibility
ISO DNA:missense mutations: :multiple (human)
DNA:SNP:exon:rs3772534 (human)
DNA:nonsense mutation (rat)
DNA:SNPs: :multiple (human)
RGD PMID:12118252 PMID:14961073 PMID:15629882 PMID:17209142 PMID:18201552 RGD:2314037 RGD:2314039 RGD:2314040 RGD:2314041 RGD:625457 NCBI chr33:11,255,453...11,665,755
Ensembl chr33:11,199,863...11,530,810
JBrowse link
G CCL2 C-C motif chemokine ligand 2 onset ISO mRNA:increased expression:pancreatic islet (mouse)
protein:increased expression:serum
RGD PMID:11317664 PMID:19092169 RGD:2306983 RGD:8549575 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCR2 C-C motif chemokine receptor 2 no_association ISO DNA:polymorphism
DNA:polymorphism: :p.V64I (human)
RGD PMID:10400139 PMID:12770795 RGD:2313562 RGD:2313564 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO protein:decreased expression:blood, mononuclear cell
mRNA:increased expression:splenocyte (rat)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD PMID:12145160 PMID:15240727 PMID:23773920 RGD:2317571 RGD:4890459 RGD:8551818 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G CD14 CD14 molecule ISO protein:increased expression:monocyte RGD PMID:10831941 PMID:14614560 RGD:2314173 RGD:2314175 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CD28 CD28 molecule onset ISO DNA:polymorphism:intron (human)
protein:decreased expression:T cell
RGD PMID:9410902 PMID:11685455 PMID:15504310 RGD:2307197 RGD:2307199 RGD:2307201 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD38 CD38 molecule disease_progression ISO OMIM:222100 RGD
MouseDO
PMID:12488956 PMID:16459468 PMID:16920929 RGD:2307229 RGD:2307230 RGD:2307231 NCBI chr 3:64,529,129...64,577,755
Ensembl chr 3:64,529,721...64,578,099
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:serum RGD PMID:12419284 PMID:15448088 PMID:16505242 PMID:16611325 PMID:26716812 RGD:11344963 RGD:2314212 RGD:2314220 RGD:5491182 RGD:8547798 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD69 CD69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr27:36,197,202...36,205,045
Ensembl chr27:36,197,175...36,204,597
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:19658094 RGD:5132624 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CD86 CD86 molecule onset ISO protein:increased expression:dendritic cell
protein:decreased expression:dendritic cell
human gene in mouse model
protein:decreased expression:dendritic cells
protein:decreased expression:macrophage,dendritic cell,T cell
RGD PMID:10679081 PMID:12742378 PMID:15356107 PMID:16232222 PMID:17947667 More... RGD:2313906 RGD:2313911 RGD:2313917 RGD:2313920 RGD:2313927 RGD:4892258 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO OMIM:222100 RGD
MouseDO
PMID:10319860 RGD:2314613 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:51,337,205...51,345,284
Ensembl chr 9:51,337,187...51,362,422
JBrowse link
G CFB complement factor B ISO protein:increased expression:serum
DNA:polymorphism
RGD PMID:3907907 PMID:19000152 RGD:2311335 RGD:2311338 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr16:11,515,727...11,665,651
Ensembl chr16:11,515,426...11,664,977
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs725613 (human)
DNA:polymorphism:intron:rs2903692A
CTD
RGD
PMID:17632545 PMID:18946483 PMID:19221398 RGD:2313978 RGD:5491176 NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17603912 PMID:20012460 RGD:2314682 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20012460 PMID:22864910 RGD:6906966 RGD:8547537 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S)
DNA:SNP:promoter:-1661A>G (human)
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
RGD PMID:8817351 PMID:9259273 PMID:16671945 PMID:18443194 RGD:1300385 RGD:2301958 RGD:2301974 RGD:2301995 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CTSB cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G CTSH cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718
JBrowse link
G CTSL3 cathepsin L family member 3 susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr 1:72,215,774...72,219,093 JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:16148094 PMID:16339582 PMID:19046227 RGD:2311358 RGD:2311362 RGD:2311363 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 onset
no_association
ISO DNA:polymorphism:3' utr (human)
mRNA:increased expression:bone marrow
RGD PMID:11334429 PMID:12383202 PMID:14522095 PMID:14679085 PMID:18793419 RGD:2301942 RGD:2306560 RGD:2306561 RGD:2306562 RGD:2306563 NCBI chr28:2,895,916...2,903,543 JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 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:2307311 RGD:2307312 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 susceptibility ISO DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) RGD PMID:17607662 RGD:2315692 NCBI chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303
JBrowse link
G DDX39B DExD-box helicase 39B ISO RGD PMID:11756005 RGD:13702905 NCBI chr12:1,032,377...1,044,465
Ensembl chr12:1,032,368...1,044,492
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 onset
susceptibility
ISO DNA:polymorphisms, haplotypes:cds:multiple (human)
associated with Sclerosing Lymphocytic Lobulitis
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)
RGD
CTD
PMID:10562813 PMID:17728790 PMID:20510319 PMID:20858521 PMID:26168013 More... RGD:11041764 RGD:14865008 RGD:5147569 RGD:5147575 RGD:5147626 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA-DRA MHC class II DR alpha chain ISO RGD PMID:11812739 RGD:5490164 NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO RGD PMID:26363782 RGD:11532657 NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013
JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO RGD PMID:19073764 RGD:2313702 NCBI chr36:7,398,713...7,472,554
Ensembl chr36:7,399,643...7,454,204
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:7485483 RGD:2298693 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
JBrowse link
G E2F2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 2:75,901,009...75,923,406
Ensembl chr 2:75,901,058...75,923,255
JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G EGFR epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr17:37,886,397...37,950,671
Ensembl chr17:37,886,601...37,949,812
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO DNA:polymorphism (human) RGD PMID:1686010 PMID:1982251 RGD:2313850 RGD:2313901 NCBI chr 5:6,059,023...6,189,516
Ensembl chr 5:6,058,935...6,186,232
JBrowse link
G F7 coagulation factor VII ISO protein:increased activity, expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)
associated with Kidney Failure; protein:increased expression:plasma (human)
RGD PMID:9686915 PMID:11146704 PMID:11297753 PMID:15860378 RGD:2312383 RGD:2312384 RGD:2312385 RGD:2312389 NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G FADS2 fatty acid desaturase 2 treatment ISO associated with hypertension RGD PMID:15589689 RGD:401901188 NCBI chr18:54,552,105...54,581,553
Ensembl chr18:54,553,366...54,659,654
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:insulin-secreting cells RGD PMID:9254659 PMID:19120316 RGD:2315742 RGD:2315754 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand ISO protein:increased expression:lymphocyte
mRNA:decreased expression:lymphocyte
RGD PMID:16180659 PMID:17324464 PMID:19120316 RGD:2315742 RGD:2315748 RGD:2315751 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G FGF21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr 1:107,571,449...107,576,630
Ensembl chr 1:107,571,446...107,573,281
JBrowse link
G FOXO1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825
JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO associated with Autoimmune Diseases;DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Diabetes mellitus type 1
RGD
ClinVar
PMID:11137992 PMID:25741868 RGD:1598959 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G FUCA1 alpha-L-fucosidase 1 ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 2:75,665,473...75,677,087
Ensembl chr 2:75,665,469...75,688,629
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GAD2 glutamate decarboxylase 2 susceptibility
onset
ISO OMIM:222100 RGD
MouseDO
PMID:18005036 PMID:19085183 PMID:19188044 PMID:19741189 RGD:2313289 RGD:2313292 RGD:2313294 RGD:2313296 NCBI chr 2:7,365,708...7,450,893
Ensembl chr 2:7,365,283...7,450,893
JBrowse link
G GAL galanin and GMAP prepropeptide ISO mRNA, protein:increased expression:celiac ganglion
protein:increased expression:plasma
RGD PMID:16060906 PMID:16487586 RGD:1624331 RGD:2313736 NCBI chr18:49,240,437...49,246,543
Ensembl chr18:49,240,437...49,246,950
JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 More... NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989
JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 More... NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GC GC vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GHR growth hormone receptor ISO mRNA, protein:decreased expression:kidney, liver RGD PMID:11469393 PMID:12054124 RGD:2307366 RGD:2307367 NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473
JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:92,278,521...92,824,303
Ensembl chr 1:92,282,164...92,734,468
JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain onset
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms (human)
DNA:polymorphisms: :multiple (human)
CTD
RGD
PMID:12270547 PMID:20510319 PMID:20858521 PMID:26168013 RGD:2314698 RGD:5147569 RGD:5147575 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11916625 PMID:16616286 RGD:2308923 RGD:2308924 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
JBrowse link
G IAPP islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417 PMID:19190104 RGD:2313356 RGD:2313357 NCBI chr27:26,295,481...26,299,967
Ensembl chr27:26,295,481...26,299,967
JBrowse link
G ICA1 islet cell autoantigen 1 onset ISO mRNA, protein:decreased expression:thymus gland RGD PMID:8647206 PMID:11751995 PMID:14679103 RGD:2311486 RGD:2311487 RGD:2311488 NCBI chr14:23,673,739...23,816,850
Ensembl chr14:23,673,758...23,796,462
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility ISO DNA:polymorphism
protein:increased expression:plasma
RGD PMID:16978373 PMID:19373518 RGD:1625758 RGD:2313468 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism
OMIM:222100
RGD
CTD
MouseDO
PMID:8977415 PMID:18644830 PMID:21340626 RGD:10755748 RGD:2311493 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IFNGR2 interferon gamma receptor 2 ISO OMIM:222100 MouseDO NCBI chr31:28,909,930...28,948,742 JBrowse link
G IGF1 insulin like growth factor 1 severity ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:15356074 PMID:16887362 PMID:19156625 PMID:24632065 RGD:2306688 RGD:2313765 RGD:2313769 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF2 insulin like growth factor 2 ISO mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 severity ISO RGD PMID:15356074 PMID:16887362 RGD:2313765 RGD:2313769 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17997340 PMID:19430480 RGD:2308949 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919 PMID:17670937 RGD:2313574 RGD:2313577 NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:increased expression:pancreatic islet, leukocyte
protein:increased expression:small intestine mucosa
RGD PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531 RGD:2311064 RGD:2311065 RGD:2311067 RGD:2311075 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:peripheral blood, leukocyte (human) RGD PMID:1797022 PMID:21848584 RGD:7175335 RGD:7401233 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO protein:decreased expression:pancreatic islet
DNA:polymorphism
DNA:SNP (human)
OMIM:222100
RGD
MouseDO
PMID:7835294 PMID:8911996 PMID:11197691 RGD:2311068 RGD:2311106 RGD:6892703 NCBI chr10:40,825,986...40,897,898
Ensembl chr10:40,827,377...40,897,596
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein
protein:increased expression:serum (human)
RGD PMID:9112337 PMID:9158104 RGD:6907403 RGD:6907407 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 onset ISO RGD PMID:3514237 PMID:17670937 RGD:10047089 RGD:2313574 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 7:6,019,879...6,022,707
Ensembl chr 7:6,019,442...6,023,219
JBrowse link
G IL21 interleukin 21 susceptibility
treatment
ISO associated with Arenaviridae infectious disease RGD PMID:27300756 PMID:28711285 RGD:127285370 RGD:127285590 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
JBrowse link
G IL27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha onset ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17676041 PMID:19106270 PMID:19119414 PMID:19701192 PMID:30224649 RGD:2311527 RGD:2311528 NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
JBrowse link
G IL2RB interleukin 2 receptor subunit beta ameliorates ISO RGD PMID:29367461 RGD:42733039 NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
JBrowse link
G IL4 interleukin 4 ISO OMIM:222100 MouseDO NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 susceptibility ISO ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to ClinVar
OMIM
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G INS insulin susceptibility
treatment
ISO associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
human gene in a mouse model
human protein in a mouse model
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
RGD
ClinVar
PMID:11921414 PMID:16113600 PMID:16382177 PMID:17284779 PMID:17855560 More... RGD:150340605 RGD:150340606 RGD:150340608 RGD:150340612 RGD:150340615 RGD:150340616 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO OMIM:222100 MouseDO NCBI chr10:8,683,541...8,730,757
Ensembl chr10:8,684,242...8,729,268
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 ISO OMIM NCBI chr12:2,970,613...3,050,254
Ensembl chr12:2,805,187...3,048,938
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 More... NCBI chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
JBrowse link
G KLRK1 killer cell lectin like receptor K1 disease_progression ISO associated with lymphocytic choriomeningitis RGD PMID:22944096 RGD:38676492 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
JBrowse link
G LGALS3 galectin 3 ISO RGD PMID:16600178 RGD:9685204 NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705
JBrowse link
G LIPC lipase C, hepatic type ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LOC100687459 GTPase IMAP family member 5 ISO DNA:frameshift deletion RGD PMID:12031988 PMID:12097339 RGD:619544 RGD:633092 NCBI chr16:14,887,308...14,895,522 JBrowse link
G LOC477072 serotransferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
JBrowse link
G LTA lymphotoxin alpha onset
treatment
susceptibility
ISO protein:decreased expression:mononuclear cell
DNA:polymorphism: :249A>G (human)
DNA:SNP (human)
DNA:polymorphism: :252A>G (human)
RGD PMID:8242903 PMID:9342542 PMID:11141334 PMID:12622777 PMID:17989340 More... RGD:2313253 RGD:2313257 RGD:2313262 RGD:2313263 RGD:2313264 RGD:8548842 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MADCAM1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:9313747 PMID:17827401 RGD:2311544 RGD:2311545 NCBI chr20:57,978,189...57,981,966
Ensembl chr20:57,978,185...57,981,966
JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO OMIM:222100 MouseDO NCBI chr 1:21,232,260...21,283,687
Ensembl chr 1:21,235,967...21,283,346
JBrowse link
G MBL1 mannose binding lectin 1 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MIR126 microRNA mir-126 ISO RNA:decreased expression:serum RGD PMID:27696070 RGD:401850786 NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504
JBrowse link
G MIR155 microRNA mir-155 susceptibility ISO DNA:SNP: :rs767649 (human) RGD PMID:28101643 RGD:24922224 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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:7,803...8,006
Ensembl chr MT:7,803...8,006
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G NCAM1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
JBrowse link
G NECAB3 N-terminal EF-hand calcium binding protein 3 ISO E2f1/E2f2 double knockout
OMIM:222100
RGD
MouseDO
PMID:15146237 RGD:1300306 NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656
JBrowse link
G NEUROD1 neuronal differentiation 1 no_association ISO DNA:polymorphism: :p.A45T (human)
DNA:polymorphism:exon
RGD PMID:15047635 PMID:16357810 PMID:16909454 RGD:2313481 RGD:2313483 RGD:2313487 NCBI chr36:24,853,591...24,857,886 JBrowse link
G NOG noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:19535454 RGD:2313214 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G PAX4 paired box 4 susceptibility ISO DNA:polymorphism: :p.R133W (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15509590 PMID:15834548 RGD:2311633 RGD:2311634 NCBI chr14:8,714,251...8,719,387
Ensembl chr14:8,714,949...8,719,371
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 3:13,233,342...13,276,921
Ensembl chr 3:13,233,594...13,274,094
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO OMIM:222100 RGD
MouseDO
PMID:17383157 RGD:2311310 NCBI chr25:11,741,863...11,746,885
Ensembl chr25:11,741,863...11,746,885
JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:14652638 RGD:2311676 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) ISO RGD PMID:14730686 RGD:1625598 NCBI chr13:62,526,571...62,528,527
Ensembl chr13:62,526,571...62,528,527
JBrowse link
G PRF1 perforin 1 ISO OMIM:222100 MouseDO NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
JBrowse link
G PRKCQ protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337
JBrowse link
G PRRC2A proline rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:10987645 PMID:15842729 RGD:2306963 RGD:2306964 NCBI chr12:1,110,627...1,125,535
Ensembl chr12:1,112,614...1,125,443
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PTF1A pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:18591390 PMID:28492532 NCBI chr 2:10,069,594...10,071,360
Ensembl chr 2:10,069,581...10,071,336
JBrowse link
G PTH parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 onset
susceptibility
ISO DNA: snp: cds: C1858T
CTD Direct Evidence: marker/mechanism
RGD
OMIM
CTD
PMID:15004560 PMID:21190368 PMID:21873553 PMID:30224649 RGD:6484524 RGD:6484692 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO RGD PMID:7568143 PMID:19741189 RGD:2313289 RGD:729710 NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931
JBrowse link
G PTPRN2 protein tyrosine phosphatase receptor type N2 ISO OMIM:222100 RGD
MouseDO
PMID:12419281 PMID:18193190 RGD:2311682 RGD:2311684 NCBI chr16:19,904,468...20,562,585
Ensembl chr16:19,905,473...20,602,680
JBrowse link
G RAN RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr26:1,435,077...1,436,893
Ensembl chr26:1,434,720...1,436,993
JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO mRNA:splice variant: heart (mouse) RGD PMID:27239029 RGD:329845874 NCBI chr10:28,284,836...28,494,618
Ensembl chr10:28,192,683...28,489,114
JBrowse link
G RETN resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
JBrowse link
G SELE selectin E ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786
JBrowse link
G SELL selectin L ISO OMIM:222100 MouseDO NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008
JBrowse link
G SENP1 SUMO specific peptidase 1 ISO OMIM:222100 MouseDO NCBI chr27:6,664,750...6,719,257
Ensembl chr27:6,664,818...6,714,479
JBrowse link
G SERPINA7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:79,571,169...79,589,199
Ensembl chr  X:79,571,169...79,576,759
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SH2B3 SH2B adaptor protein 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: : (rs3184504) (human)
DNA:missense mutation:exon: (rs3184504) (human)
CTD
RGD
PMID:21829393 PMID:21873553 PMID:30224649 RGD:153297780 RGD:6484692 NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204
JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:SNP:intron:rs3731865 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :274C>T (human)
DNA:repeat:promoter (human)
RGD
CTD
PMID:15877293 PMID:16550170 PMID:16597321 PMID:19768110 PMID:21524304 RGD:5684926 RGD:5684932 RGD:5684950 RGD:5684955 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:pancreas (human) RGD PMID:16710474 PMID:19223416 RGD:2317333 RGD:5131199 NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993
JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197
JBrowse link
G SOD1 superoxide dismutase 1 ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr10:23,451,923...23,532,765
Ensembl chr10:23,452,561...23,518,689
Ensembl chr10:23,452,561...23,518,689
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO OMIM:222100 MouseDO NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:mutation:promoter (mouse)
DNA:polymorphisms (human)
DNA:insertion:intron (human)
RGD PMID:9129974 PMID:9300732 PMID:9458110 RGD:2312369 RGD:2312370 RGD:2312371 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:1300236 PMID:17192492 RGD:2312368 RGD:2312373 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TBP TATA-box binding protein no_association
susceptibility
ISO DNA:repeat:cds:g.172(CAG/CAA)38 (human) RGD PMID:15381080 PMID:15850778 RGD:5684348 RGD:5684349 NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 More... NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
JBrowse link
G THBD thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TLR2 toll like receptor 2 no_association ISO protein:increased expression:monocyte
DNA:SNP: :1350T>C (human)
DNA:SNP: :rs3804100 (human)
RGD PMID:15699513 PMID:17130564 PMID:17707128 PMID:18029454 PMID:19148143 RGD:2312679 RGD:2312683 RGD:2312684 RGD:2312686 RGD:2312687 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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 chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:monocyte RGD PMID:16728431 PMID:18029454 RGD:2312492 RGD:2312683 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP (human)
CTD
RGD
PMID:19120272 PMID:23640034 RGD:2313253 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO RGD PMID:12882912 PMID:18057577 RGD:2312740 RGD:2312743 NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060
JBrowse link
G TNFSF4 TNF superfamily member 4 ISO OMIM:222100 MouseDO NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
JBrowse link
G TYK2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Virus-induced diabetes ClinVar PMID:26288847 NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216
JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr20:53,482,239...53,532,399
Ensembl chr20:53,482,498...53,531,296
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 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:10729383 RGD:13673887 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein no_association ISO DNA:missense mutation: :p.R456H (human)
DNA:mutations:exons, 5' utr, 3' utr:multiple
RGD PMID:10679252 PMID:15008830 PMID:15056606 RGD:8694393 RGD:8694396 RGD:8694402 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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 6:26,742,853...27,041,666
Ensembl chr 6:26,742,853...27,041,666
JBrowse link
G YY1 YY1 transcription factor treatment ISO DNA:SNPs:intron RGD PMID:15234341 PMID:15619288 RGD:9588271 RGD:9588274 NCBI chr 8:68,539,511...68,572,796
Ensembl chr 8:68,539,353...68,568,058
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 term: Type 1 diabetes mellitus 10 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532 NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
JBrowse link
type 1 diabetes mellitus 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 ClinVar
OMIM
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
type 1 diabetes mellitus 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 ClinVar PMID:25741868 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
type 1 diabetes mellitus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INS insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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: Type 1 diabetes mellitus 20 OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
type 1 diabetes mellitus 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 22 ClinVar
OMIM
PMID:25741868 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385
JBrowse link
type 1 diabetes mellitus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEUROD1 neuronal differentiation 1 ISO OMIM:600321 MouseDO NCBI chr36:24,853,591...24,857,886 JBrowse link
Wolcott-Rallison syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO ClinVar Annotator: match by term: Wolcott-Rallison dysplasia OMIM
ClinVar
PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID:16813601 More... NCBI chr17:37,886,397...37,950,671
Ensembl chr17:37,886,601...37,949,812
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:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM
ClinVar
PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr32:24,257,909...24,274,732
Ensembl chr32:24,257,994...24,274,064
JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr32:24,292,961...24,352,795
Ensembl chr32:24,272,035...24,352,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      endocrine system disease 5981
        autoimmune disease of endocrine system 351
          Graves' disease + 66
          Hirata disease 0
          autoimmune pancreatitis 1
          autoimmune polyendocrine syndrome + 21
          autoimmune thyroiditis + 35
          type 1 diabetes mellitus + 285
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      Immune & Inflammatory Diseases 5002
        immune system disease 4332
          primary immunodeficiency disease 3731
            autoimmune disease 1990
              autoimmune disease of endocrine system 351
                Graves' disease + 66
                Hirata disease 0
                autoimmune pancreatitis 1
                autoimmune polyendocrine syndrome + 21
                autoimmune thyroiditis + 35
                type 1 diabetes mellitus + 285
paths to the root