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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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
autoimmune pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain severity ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) RGD PMID:18155707 RGD:5147621 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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 chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:16254435 RGD:5147646 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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 chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974
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 chr21:30,585,802...30,595,981
Ensembl chr21:43,881,219...43,889,891
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,503,194...30,520,237
Ensembl chr21:43,798,778...43,814,283
JBrowse link
G GHRH growth hormone releasing hormone ISO RGD PMID:22506635 RGD:10401267 NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240
JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,474,655...30,499,302 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963
JBrowse link
G LOC100971425 somatotropin ISO RGD PMID:22506635 RGD:10401267 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067
JBrowse link
G LOC100988625 keratin-associated protein 10-11 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,940,722...30,942,340
Ensembl chr21:44,235,427...44,236,323
JBrowse link
G LOC100989875 keratin-associated protein 10-7 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,895,205...30,896,781 JBrowse link
G LOC100990200 keratin-associated protein 10-9 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,906,737...30,922,668
Ensembl chr21:44,215,942...44,216,821
JBrowse link
G LOC100990544 keratin-associated protein 12-2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,960,899...30,961,631 JBrowse link
G LOC100990879 keratin-associated protein 12-1 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,973,102...30,973,742
Ensembl chr21:44,267,403...44,267,753
JBrowse link
G LOC100991542 keratin-associated protein 12-3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,952,706...30,953,103
Ensembl chr21:44,247,114...44,247,404
JBrowse link
G LOC103787000 keratin-associated protein 10-3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,995,608...30,996,315 JBrowse link
G LOC112438088 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,988,028...30,989,931 JBrowse link
G LOC117977362 keratin-associated protein 10-1 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,842,558...30,844,819 JBrowse link
G LOC117977363 keratin-associated protein 10-10 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,932,073...30,933,125 JBrowse link
G LOC134729714 keratin-associated protein 12-4 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,747,366...30,755,362
Ensembl chr21:44,047,140...44,047,913
JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:30,557,576...30,584,231
Ensembl chr21:43,857,052...43,878,380
JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:31,143,600...31,169,231
Ensembl chr21:44,438,136...44,459,586
JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:31,098,812...31,112,286 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 chr21:30,606,825...30,737,313
Ensembl chr21:43,903,811...44,035,298
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 chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041
JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:31,062,516...31,095,044
Ensembl chr21:44,355,235...44,388,373
JBrowse link
autoimmune polyendocrine syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human) RGD PMID:21388354 RGD:5147565 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
autoimmune thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 onset ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G FCRL3 Fc receptor like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 1:133,038,100...133,062,467
Ensembl chr 1:136,830,553...136,855,027
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 6:119,213,513...119,227,617 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:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961
JBrowse link
G GJB2 gap junction protein beta 2 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9892610 RGD:8142396 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 severity ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) RGD PMID:19301205 RGD:2307256 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) RGD PMID:20825955 RGD:5147571 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100987081 HLA class II histocompatibility antigen, DR alpha chain ISO RGD PMID:12126634 RGD:5147805 NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417
JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:
associated with hepatitis C;DNA:SNP:exon:
RGD PMID:19703233 PMID:22360648 RGD:14696815 RGD:8693703 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
JBrowse link
G SLA Src like adaptor ISO ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 ClinVar PMID:25741868 NCBI chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669
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 chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918
JBrowse link
G TLR3 toll like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TSHR thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890
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 chr 8:131,148,934...131,383,113
Ensembl chr 8:134,102,879...134,337,255
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... Ensembl chr 4:6,345,864...6,379,287 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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association
severity
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNG interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1RN interleukin 1 receptor antagonist severity
susceptibility
ISO protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)
RGD PMID:12186498 PMID:19702713 RGD:7387296 RGD:8549808 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815
JBrowse link
G IL3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
JBrowse link
G KIF1A kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
JBrowse link
G SCD stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776
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 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human)
RGD PMID:8444271 PMID:15219383 PMID:16191343 RGD:12904066 RGD:7365073 RGD:7794734 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TSHR thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20237164 PMID:22673349 PMID:31705858 RGD:8548662 RGD:8548673 NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890
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 associated with thyroid diseases; protein:increased expression:serum RGD PMID:18997483 PMID:20583542 RGD:5686818 RGD:5686857 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
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 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174
JBrowse link
G B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr2A:62,276,662...62,305,286
Ensembl chr2A:63,435,289...63,436,482
JBrowse link
G BTNL2 butyrophilin like 2 onset ISO DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr 6:32,067,223...32,126,032 JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) ISO RGD PMID:21943165 RGD:5688264 NCBI chr 6:31,648,710...31,655,792 JBrowse link
G CAT catalase treatment ISO protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CD4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204
JBrowse link
G CD40 CD40 molecule no_association
onset
ISO DNA:SNP:5' utr:-1C>T (human) RGD PMID:12593727 PMID:15307939 PMID:18755875 RGD:8547766 RGD:8547769 RGD:8547778 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:8875745 RGD:8547747 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
no_association
ISO DNA:SNP: :rs231779(human)
DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)
DNA:SNP:promoter:-318C>T (human)
DNA:polymorphism:exon:49G>A(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :-318C>T(rs11571302)(human)
DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)
RGD
CTD
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G DNMT1 DNA methyltransferase 1 treatment ISO DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G ESR2 estrogen receptor 2 no_association
susceptibility
ISO DNA:repeat
DNA:snp:intron:IVS8G>A (rs4986938) (human)
RGD PMID:11180758 PMID:17941906 RGD:10045850 RGD:8693348 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FCRL3 Fc receptor like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:133,038,100...133,062,467
Ensembl chr 1:136,830,553...136,855,027
JBrowse link
G FKBP1B FKBP prolyl isomerase 1B ISO RGD PMID:15497458 RGD:1580387 NCBI chr2A:24,047,287...24,065,765
Ensembl chr2A:24,145,893...24,159,082
JBrowse link
G GC GC vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human)
CTD Direct Evidence: marker/mechanism
DNA:repeats:intron
RGD
CTD
PMID:12050214 PMID:16868893 RGD:5509883 RGD:5509886 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G ICAM1 intercellular adhesion molecule 1 onset
no_association
ISO protein:increased expression:blood, lymphocyte
DNA:polymorphism: :c.721G>A (human)
DNA:SNP: :p.K469E (rs5498) (human)
RGD PMID:12357047 PMID:14557478 PMID:17873320 RGD:8158121 RGD:8158124 RGD:8547702 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170
JBrowse link
G IFNG interferon gamma treatment
susceptibility
ISO DNA:repeats:intron:
CTD Direct Evidence: marker/mechanism
DNA:microsatellite repeats:intron:
DNA:polymorphism:cds:+874A>T(human)
protein:increased expression:serum:
RGD
CTD
PMID:2125901 PMID:9848715 PMID:15068623 PMID:15544617 PMID:16970687 More... RGD:8142372 RGD:8142373 RGD:8142393 RGD:8157599 RGD:8157604 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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 chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IL10 interleukin 10 no_association ISO protein:increased expression:serum
DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)
DNA:SNP: :rs1800896 (human)
DNA:SNPs:promoter:multiple
RGD PMID:15497451 PMID:19250272 PMID:19882211 PMID:21424183 RGD:7364858 RGD:7364862 RGD:7365026 RGD:7365074 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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 chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
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 chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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 chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta ISO DNA:SNP:promoter:-511C>T (human) RGD PMID:2674184 PMID:16025481 RGD:7401177 RGD:7401207 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:2279527 RGD:8662947 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815
JBrowse link
G IL3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 disease_progression ISO DNA:polymorphism:promoter:-572C>G(human)
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12818091 PMID:16372246 PMID:21235536 RGD:7829719 RGD:7829750 NCBI chr 7:23,415,922...23,420,767 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 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:23109646 RGD:8693341 NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human)
DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human)
RGD PMID:10468909 PMID:11272094 RGD:7421572 RGD:7483568 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain onset
susceptibility
ISO DNA:polymorphism:cds:HLA-B39 (human)
DNA:polymorphism:cds:HLA-B8 (human)
DNA:polymorphism, haplotype:cds:HLA-B*5801 (human)
DNA:polymorphism:cds:HLA-B*46 (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 chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
JBrowse link
G LTA lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:1346144 PMID:7928443 RGD:8548778 RGD:8548790 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:21465496 RGD:8657376 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
JBrowse link
G PDCD1 programmed cell death 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr12:130,849,353...130,858,776 JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO CTD Direct Evidence: marker/mechanism
DNA: SNP: cds: C1858T
DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human)
DNA:SNP, haplotype:promoter:-1123G>C (human)
CTD
RGD
PMID:15504986 PMID:17608818 PMID:18687223 PMID:21190368 RGD:6484538 RGD:7829738 RGD:7829763 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
JBrowse link
G RNASET2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 6:164,895,396...164,923,008
Ensembl chr 6:169,872,780...169,899,599
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 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 Ensembl chr12:32,068,679...32,085,099 JBrowse link
G TG thyroglobulin no_association
treatment
ISO DNA:SNPs:exon:multiple
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)
protein:increased expression:serum
DNA:SNP:exon
RGD
CTD
PMID:95586 PMID:14636875 PMID:17550957 PMID:18656705 PMID:22662162 More... RGD:8548606 RGD:8548630 RGD:8548643 RGD:8548644 RGD:8548645 NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human)
DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)
DNA:polymorphism: :-863A>C
RGD PMID:15219383 PMID:17348243 PMID:19732761 RGD:7365073 RGD:7394790 RGD:7394807 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
JBrowse link
G TP53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TPO thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055
JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028
JBrowse link
G TSHR thyroid stimulating hormone receptor no_association
treatment
ISO DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human)
DNA:SNPs:intron:rs179247, rs12101255 (human)
DNA:SNPs: :multiple
DNA:polymorphism: :pD727E (human)
DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human)
CTD Direct Evidence: marker/mechanism
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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890
JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNPs: :rs1544410, rs10735810 (human)
DNA:SNPs: :rs731236, rs7975232 (human)
DNA:SNPs: :rs1544410, rs7975232 (human)
DNA:SNP: :rs2228570 (human)
DNA:polymorphisms, haplotype
RGD PMID:11134121 PMID:16100768 PMID:16279845 PMID:17506475 RGD:8157624 RGD:8157628 RGD:8157632 RGD:8158053 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VEGFA vascular endothelial growth factor A ISO DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) RGD PMID:22771446 RGD:7483621 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
Hashimoto Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614
JBrowse link
G CAT catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G ESR2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNG interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL6 interleukin 6 ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16372246 PMID:21235536 RGD:7829719 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms (human)
associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human)
RGD PMID:8157715 PMID:19254248 RGD:5147613 RGD:7483569 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
JBrowse link
G TG thyroglobulin no_association ISO DNA:SNPs:exon:multiple
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:3052944 PMID:14636875 PMID:18656705 PMID:21559421 PMID:30373627 RGD:8548606 RGD:8548607 RGD:8548630 RGD:8548647 NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
JBrowse link
G TSHR thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890
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:42,396,399...42,406,725
Ensembl chr  X:50,109,367...50,119,658
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:39,997,026...40,007,783
Ensembl chr  X:47,893,153...47,904,643
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:43,071,039...43,076,941
Ensembl chr  X:50,783,925...50,791,369
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:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
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:41,341,834...41,367,761
Ensembl chr  X:49,207,391...49,223,552
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:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742
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:42,409,954...42,511,811
Ensembl chr  X:50,157,122...50,223,547
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:39,655,119...39,666,878
Ensembl chr  X:47,512,647...47,524,742
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:40,060,106...40,066,720
Ensembl chr  X:47,956,191...47,961,965
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:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363
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:42,525,307...42,630,539
Ensembl chr  X:50,240,773...50,342,050
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 9:6,791...256,837
Ensembl chr 9:201,156...446,910
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,820,042...40,826,957 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:40,071,433...40,086,518
Ensembl chr  X:47,967,492...47,982,579
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:41,125,895...41,127,757
Ensembl chr  X:48,986,812...48,987,513
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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
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:40,774,056...40,784,290
Ensembl chr  X:48,638,454...48,648,779
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:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126
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:41,060,152...41,071,654
Ensembl chr  X:48,920,747...48,932,442
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:41,413,165...41,423,780
Ensembl chr  X:49,267,657...49,278,495
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:41,271,762...41,300,327
Ensembl chr  X:49,128,760...49,157,059
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:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642
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:39,347,038...39,496,236
Ensembl chr  X:47,278,395...47,354,732
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:41,258,803...41,270,036
Ensembl chr  X:49,115,933...49,127,030
JBrowse link
G LOC100995951 protein SSX3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,644,582...40,655,665
Ensembl chr  X:48,538,111...48,548,447
JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 Ensembl chr  X:49,315,253...49,318,703 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:39,579,460...39,582,462
Ensembl chr  X:47,437,573...47,440,578
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:41,219,536...41,256,219 JBrowse link
G PAGE1 PAGE family member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,902,094...41,908,385
Ensembl chr  X:49,616,560...49,624,799
Ensembl chr  X:49,616,560...49,624,799
JBrowse link
G PAGE4 PAGE family member 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,044,199...42,048,954
Ensembl chr  X:49,758,858...49,763,611
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:41,128,785...41,133,284
Ensembl chr  X:48,988,948...48,990,028
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:41,210,494...41,216,552
Ensembl chr  X:49,068,721...49,074,731
JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,473,985...41,474,882
Ensembl chr  X:49,324,176...49,328,698
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:40,807,151...40,819,069
Ensembl chr  X:48,671,829...48,682,980
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:41,569,825...41,587,523 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:41,188,244...41,200,312
Ensembl chr  X:49,053,030...49,058,585
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:41,369,432...41,372,322
Ensembl chr  X:49,224,864...49,233,960
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:41,474,569...41,486,986
Ensembl chr  X:49,327,145...49,338,613
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:39,582,480...39,623,749
Ensembl chr  X:47,440,815...47,481,204
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:40,872,745...40,876,611
Ensembl chr  X:48,734,777...48,738,077
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:39,513,135...39,530,188
Ensembl chr  X:47,371,226...47,388,881
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:39,274,103...39,319,832
Ensembl chr  X:47,133,639...47,178,608
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:42,673,968...42,974,947
Ensembl chr  X:50,464,824...50,687,221
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 Ensembl chr  X:49,058,622...49,067,821 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:40,756,423...40,768,327
Ensembl chr  X:48,621,018...48,632,682
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:39,037,499...39,197,421
Ensembl chr  X:46,906,644...47,057,705
JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,435,554...40,441,190 JBrowse link
G SSX4B SSX family member 4B ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:40,681,040...40,691,457 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:40,993,911...41,007,362
Ensembl chr  X:48,855,494...48,868,131
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:40,007,777...40,055,801 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:41,487,538...41,500,039
Ensembl chr  X:49,340,021...49,352,420
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:40,837,887...40,860,885
Ensembl chr  X:48,701,740...48,724,366
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:41,326,802...41,341,574
Ensembl chr  X:49,182,795...49,197,194
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:41,191,130...41,195,561
Ensembl chr  X:49,049,175...49,053,452
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:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
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:39,627,753...39,652,023
Ensembl chr  X:47,493,331...47,509,654
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:39,669,761...39,685,231
Ensembl chr  X:47,527,673...47,542,638
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:42,093,799...42,097,346
Ensembl chr  X:49,809,559...49,810,875
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:40,087,712...40,095,164
Ensembl chr  X:47,983,770...47,991,148
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:40,982,132...40,989,767
Ensembl chr  X:48,842,765...48,850,380
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:40,895,793...40,907,183
Ensembl chr  X:48,757,416...48,765,111
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:41,372,722...41,400,441
Ensembl chr  X:49,224,864...49,233,960
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:39,802,953...39,852,227
Ensembl chr  X:47,699,782...47,746,867
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:40,404,284...40,435,360
Ensembl chr  X:48,298,563...48,394,699
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:39,881,999...39,922,058
Ensembl chr  X:47,777,784...47,818,791
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:40,488,548...40,502,832
Ensembl chr  X:48,298,563...48,394,699
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:40,258,879...40,355,254
Ensembl chr  X:48,153,161...48,239,640
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G SUMO4 small ubiquitin like modifier 4 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 6:147,219,279...147,221,125 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 6:147,138,553...147,231,559
Ensembl chr 6:151,868,513...151,936,841
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 chr16:24,211,929...24,221,756
Ensembl chr16:31,115,033...31,127,216
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACHE acetylcholinesterase (Yt blood group) ISO RGD PMID:2658981 RGD:2312438 NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
JBrowse link
G ACP1 acid phosphatase 1 onset ISO RGD PMID:11912546 PMID:15586390 RGD:2313182 RGD:2313186 NCBI chr2A:257,892...271,320
Ensembl chr2A:253,656...267,086
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19640330 RGD:2313235 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADRB1 adrenoceptor beta 1 ISO RGD PMID:21491159 RGD:6893642 NCBI chr10:110,642,491...110,646,595 JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO DNA:SNP:promoter:-374T>A (human)
DNA:SNP, haplotype: :557G>A (p.G82S) (human)
protein:increased expression:renal cortex (mouse)
protein:decreased expression:serum (human)
RGD PMID:10553500 PMID:16969646 PMID:18420491 PMID:21738623 PMID:21870072 RGD:2325657 RGD:7243937 RGD:7244183 RGD:8695958 RGD:8695961 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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 chr 6:31,276,215...31,278,051
Ensembl chr 6:32,166,301...32,168,125
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO RGD PMID:12706323 RGD:2311151 NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:17940120 RGD:5509611 NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:increased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:decreased expression:plasma RGD PMID:9578960 RGD:2313962 NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959
JBrowse link
G APOB apolipoprotein B ISO RGD PMID:1579407 PMID:19171731 RGD:2313972 RGD:2313980 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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 chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
JBrowse link
G APOE apolipoprotein E ISO protein:decreased expression:urine (human) RGD PMID:22678621 RGD:6903197 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:9472678 RGD:2313990 NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483
JBrowse link
G APOM apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:19007767 RGD:2314238 NCBI chr 6:31,313,543...31,319,374
Ensembl chr 6:32,206,514...32,209,249
JBrowse link
G AVP arginine vasopressin ISO RGD PMID:5692127 PMID:13995944 RGD:2314661 RGD:632128 NCBI chr20:3,169,094...3,172,900 JBrowse link
G B2M beta-2-microglobulin ISO RGD PMID:11572996 PMID:15446308 RGD:2311235 RGD:2311238 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr 6:87,806,188...88,175,840
Ensembl chr 6:91,083,533...91,160,552
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24342660 RGD:9684973 NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527
JBrowse link
G BCHE butyrylcholinesterase onset ISO DNA:polymorphism: :p.A539T (human) RGD PMID:17026497 RGD:2306779 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
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 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
JBrowse link
G BMAL2 basic helix-loop-helix ARNT like 2 ISO DNA:SNPs:exon:multiple RGD PMID:16893914 RGD:2314359 NCBI chr12:58,885,410...58,977,832
Ensembl chr12:61,503,973...61,596,580
JBrowse link
G BTC betacellulin susceptibility ISO DNA:polymorphism:intron:IVS4-4C>T (human) RGD PMID:16683131 RGD:2306966 NCBI chr 4:49,329,413...49,462,891
Ensembl chr 4:55,242,899...55,298,773
JBrowse link
G C10H12orf43 chromosome 10 C12orf43 homolog ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:25741868 NCBI chr12:118,583,873...118,599,866
Ensembl chr12:121,955,849...121,969,658
JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr22:18,093,940...18,112,459
Ensembl chr22:35,928,835...35,937,021
JBrowse link
G C3 complement C3 ISO RGD PMID:3253105 RGD:2314031 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:hippocampus RGD PMID:15855338 RGD:2311451 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:12753807 RGD:2311431 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:14617576 PMID:17880769 RGD:2311245 RGD:2311322 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15111504 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA:decreased expression:pancreatic lymph node, mast cell (rat) RGD PMID:17082646 RGD:1598972 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
JBrowse link
G CBLB Cbl proto-oncogene B no_association
susceptibility
ISO DNA:SNP:exon:rs3772534 (human)
DNA:missense mutations: :multiple (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 chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: therapeutic CTD PMID:21340626 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) RGD PMID:16855620 RGD:2307102 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR2 C-C motif chemokine receptor 2 no_association ISO DNA:polymorphism: :p.V64I (human) RGD PMID:10400139 PMID:12770795 RGD:2313562 RGD:2313564 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO protein:decreased expression:blood, mononuclear cell
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
mRNA:increased expression:splenocyte (rat)
RGD PMID:12145160 PMID:15240727 PMID:23773920 RGD:2317571 RGD:4890459 RGD:8551818 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD14 CD14 molecule ISO protein:increased expression:monocyte RGD PMID:10831941 PMID:14614560 RGD:2314173 RGD:2314175 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CD28 CD28 molecule onset ISO protein:decreased expression:T cell
DNA:polymorphism:intron (human)
RGD PMID:9410902 PMID:11685455 PMID:15504310 RGD:2307197 RGD:2307199 RGD:2307201 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO protein:increased expression:heart RGD PMID:7544802 RGD:2307219 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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 4:10,228,803...10,295,129
Ensembl chr 4:15,525,835...15,587,677
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:plasma RGD PMID:22505539 RGD:6893375 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CD69 CD69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr12:9,800,446...9,808,874
Ensembl chr12:10,049,668...10,058,094
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:19658094 RGD:5132624 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870
JBrowse link
G CD86 CD86 molecule onset ISO protein:increased expression:dendritic cell
protein:decreased expression:macrophage,dendritic cell,T cell
protein:decreased expression:dendritic cell
human gene in mouse model
protein:decreased expression:dendritic cells
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 chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO OMIM:222100 RGD
MouseDO
PMID:10319860 RGD:2314613 NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010
JBrowse link
G CFB complement factor B ISO DNA:polymorphism
protein:increased expression:serum
RGD PMID:3907907 PMID:19000152 RGD:2311335 RGD:2311338 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:18957531 RGD:4892627 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18603373 NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs2903692A
DNA:polymorphism:intron:rs725613 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17632545 PMID:18946483 PMID:19221398 RGD:2313978 RGD:5491176 NCBI chr16:9,887,877...10,124,500
Ensembl chr16:11,109,869...11,343,512
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17603912 PMID:20012460 RGD:2314682 NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544
JBrowse link
G CRP C-reactive protein ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD
RGD
PMID:20012460 PMID:22864910 RGD:6906966 RGD:8547537 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNP:promoter:-1661A>G (human)
DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S)
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CTSB cathepsin B susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CTSH cathepsin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
JBrowse link
G CTSL cathepsin L susceptibility ISO RGD PMID:19664906 RGD:2315524 NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:16148094 PMID:16339582 PMID:19046227 RGD:2311358 RGD:2311362 RGD:2311363 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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 chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 susceptibility ISO DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)
RGD PMID:17223345 PMID:17606874 RGD:2307311 RGD:2307312 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO mRNA:increased expression:leukocyte RGD PMID:12743671 RGD:2313684 Ensembl chr10:134,839,025...134,852,719 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 chr11:14,960,651...14,989,083
Ensembl chr11:14,656,939...14,671,584
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23499715 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G DDX39B DExD-box helicase 39B ISO RGD PMID:11756005 RGD:13702905 NCBI chr 6:31,191,333...31,203,246
Ensembl chr 6:32,081,210...32,092,569
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:CD4+ T cell: RGD PMID:21864931 RGD:9589109 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO RGD PMID:26363782 RGD:11532657 NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910
JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO RGD PMID:19073764 RGD:2313702 NCBI chr2B:49,285,685...49,368,056
Ensembl chr2B:166,654,659...166,736,588
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:7485483 RGD:2298693 NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
JBrowse link
G E2F1 E2F transcription factor 1 ISO E2f1/E2f2 double knockout
OMIM:222100
RGD
MouseDO
PMID:15146237 RGD:1300306 NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
JBrowse link
G E2F2 E2F transcription factor 2 ISO E2f1/E2f2 double knockout RGD PMID:15146237 RGD:1300306 NCBI chr 1:22,696,695...22,722,840
Ensembl chr 1:23,683,293...23,707,951
JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:2198188 RGD:4144835 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EGFR epidermal growth factor receptor ISO protein:decreased phosphorylation:liver (rat) RGD PMID:2833110 RGD:5131531 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:polymorphism RGD PMID:15483661 RGD:1601017 NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO DNA:polymorphism (human) RGD PMID:1686010 PMID:1982251 RGD:2313850 RGD:2313901 NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673
JBrowse link
G F7 coagulation factor VII ISO protein:increased activity, expression:plasma (human)
associated with Kidney Failure; protein:increased expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)
RGD PMID:9686915 PMID:11146704 PMID:11297753 PMID:15860378 RGD:2312383 RGD:2312384 RGD:2312385 RGD:2312389 NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995
JBrowse link
G FADS2 fatty acid desaturase 2 treatment ISO associated with hypertension RGD PMID:15589689 RGD:401901188 NCBI chr11:57,192,881...57,232,574
Ensembl chr11:60,476,082...60,591,649
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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASLG Fas ligand ISO mRNA:decreased expression:lymphocyte
protein:increased expression:lymphocyte
RGD PMID:16180659 PMID:17324464 PMID:19120316 RGD:2315742 RGD:2315748 RGD:2315751 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FGF21 fibroblast growth factor 21 ISO CTD Direct Evidence: therapeutic CTD PMID:23499715 NCBI chr19:45,755,466...45,758,472 JBrowse link
G FOXO1 forkhead box O1 ISO protein:altered localization:nucleus,liver cell: RGD PMID:15546000 RGD:10045358 NCBI chr13:21,763,729...21,874,279 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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G FUCA1 alpha-L-fucosidase 1 ISO protein:decreased activity:plasma RGD PMID:7304074 RGD:2315949 NCBI chr 1:23,039,126...23,060,514
Ensembl chr 1:24,022,967...24,043,850
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:erythrocyte RGD PMID:15914531 RGD:2307348 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
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 chr10:26,392,877...26,481,859
Ensembl chr10:26,759,243...26,843,197
JBrowse link
G GAL galanin and GMAP prepropeptide ISO protein:increased expression:plasma
mRNA, protein:increased expression:celiac ganglion
RGD PMID:16060906 PMID:16487586 RGD:1624331 RGD:2313736 NCBI chr11:63,770,758...63,777,421
Ensembl chr11:67,075,547...67,081,696
JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 More... NCBI chr18:15,411,764...15,444,402 JBrowse link
G GC GC vitamin D binding protein ISO DNA:polymorphism:exon:p.D416E(human) RGD PMID:11239517 RGD:2315558 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
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 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G GIMAP5 GTPase, IMAP family member 5 ISO DNA:frameshift deletion RGD PMID:12031988 PMID:12097339 RGD:619544 RGD:633092 NCBI chr 7:142,319,479...142,326,035 JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658
JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:decreased activity:plasma (human) RGD PMID:16489975 RGD:2312634 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G GSTM1 glutathione S-transferase mu 1 onset ISO RGD PMID:16390810 RGD:2306629 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:pancreatic beta cell: RGD PMID:22772764 RGD:9590127 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
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 chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
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 chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
JBrowse link
G IAPP islet amyloid polypeptide ISO protein:decreased expression:plasma RGD PMID:19033417 PMID:19190104 RGD:2313356 RGD:2313357 NCBI chr12:64,918,000...64,925,191
Ensembl chr12:67,520,986...67,528,103
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 chr 7:8,838,319...8,992,433
Ensembl chr 7:8,188,479...8,314,556
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility ISO protein:increased expression:plasma
DNA:polymorphism
RGD PMID:16978373 PMID:19373518 RGD:1625758 RGD:2313468 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNG interferon gamma ISO OMIM:222100
CTD Direct Evidence: marker/mechanism
RGD
MouseDO
CTD
PMID:8977415 PMID:18644830 PMID:21340626 RGD:10755748 RGD:2311493 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IFNGR2 interferon gamma receptor 2 ISO OMIM:222100 MouseDO NCBI chr21:19,760,314...19,794,851
Ensembl chr21:33,135,048...33,169,137
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 chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF2 insulin like growth factor 2 ISO mRNA, protein:decreased expression:thymus RGD PMID:11307180 RGD:5510007 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO DNA:SNP (human) RGD PMID:15531531 RGD:2311611 NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 severity ISO RGD PMID:15356074 PMID:16887362 RGD:2313765 RGD:2313769 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17997340 PMID:19430480 RGD:2308949 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:serum RGD PMID:16098919 PMID:17670937 RGD:2313574 RGD:2313577 NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:18359638 RGD:8655935 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:small intestine mucosa
mRNA:increased expression:pancreatic islet, leukocyte
RGD PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531 RGD:2311064 RGD:2311065 RGD:2311067 RGD:2311075 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO DNA:polymorphism
OMIM:222100
DNA:SNP (human)
protein:decreased expression:pancreatic islet
RGD
MouseDO
PMID:7835294 PMID:8911996 PMID:11197691 RGD:2311068 RGD:2311106 RGD:6892703 Ensembl chr2A:103,193,131...103,230,005 JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum (human)
mouse model treated with human protein
RGD PMID:9112337 PMID:9158104 RGD:6907403 RGD:6907407 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IL2 interleukin 2 onset ISO RGD PMID:3514237 PMID:17670937 RGD:10047089 RGD:2313574 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480 NCBI chr 1:182,468,571...182,472,440
Ensembl chr 1:186,747,086...186,750,952
JBrowse link
G IL21 interleukin 21 treatment
susceptibility
ISO associated with Arenaviridae infectious disease RGD PMID:27300756 PMID:28711285 RGD:127285370 RGD:127285590 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:19208913 RGD:6892930 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G IL27 interleukin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430480
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 chr10:6,053,549...6,103,863 JBrowse link
G IL2RB interleukin 2 receptor subunit beta ameliorates ISO RGD PMID:29367461 RGD:42733039 NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
JBrowse link
G IL4 interleukin 4 ISO OMIM:222100 MouseDO NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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 chr 7:23,415,922...23,420,767 JBrowse link
G INS insulin susceptibility
treatment
ISO associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
human protein in a mouse model
human gene in a mouse model
RGD
ClinVar
PMID:11921414 PMID:16113600 PMID:16382177 PMID:17284779 PMID:17855560 More... RGD:150340605 RGD:150340606 RGD:150340608 RGD:150340612 RGD:150340615 RGD:150340616 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO OMIM:222100 MouseDO NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:SNPs: :multiple (human) RGD PMID:15161765 RGD:2311116 NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO protein:altered expression:thymocyte (mouse) RGD PMID:18567821 RGD:2307423 NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7528925 RGD:13593534 NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 ISO OMIM NCBI chr 6:33,194,531...33,269,788
Ensembl chr 6:34,303,454...34,378,215
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 chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
JBrowse link
G LGALS3 galectin 3 ISO RGD PMID:16600178 RGD:9685204 NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
JBrowse link
G LIPC lipase C, hepatic type ISO protein:decreased expression:plasma (human) RGD PMID:9580247 RGD:2308845 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LOC100971425 somatotropin ISO protein:increased expression:serum RGD PMID:2888037 PMID:3097114 PMID:7298798 RGD:2315674 RGD:2315684 RGD:2315685 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain 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 chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100987081 HLA class II histocompatibility antigen, DR alpha chain ISO RGD PMID:11812739 RGD:5490164 NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417
JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:7576003 RGD:6480651 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
JBrowse link
G LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain ISO RGD PMID:7576003 RGD:6480651 NCBI chr 6:32,637,826...32,646,501
Ensembl chr 6:33,752,638...33,761,417
JBrowse link
G LTA lymphotoxin alpha treatment
onset
susceptibility
ISO DNA:polymorphism: :252A>G (human)
protein:decreased expression:mononuclear cell
DNA:polymorphism: :249A>G (human)
DNA:SNP (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 chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G MADCAM1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:9313747 PMID:17827401 RGD:2311544 RGD:2311545 NCBI chr19:627,526...636,684
Ensembl chr19:468,026...477,830
JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO OMIM:222100 MouseDO NCBI chr18:47,534,356...47,609,481 JBrowse link
G MBL2 mannose binding lectin 2 no_association ISO RGD PMID:18361935 RGD:12910829 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:kidney RGD PMID:23632630 RGD:13204760 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:transversion:cds:g.1298A>C (human) RGD PMID:18774994 RGD:6893652 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G NCAM1 neural cell adhesion molecule 1 onset ISO protein:increased expression:pancreatic islet RGD PMID:15714132 RGD:2326066 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
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 chr2B:68,939,341...68,943,516 JBrowse link
G NOG noggin ISO mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:19535454 RGD:2313214 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666113 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NOTCH4 notch receptor 4 ISO DNA: SNP: 5' utr: rs2395106 RGD PMID:19143814 RGD:6480791 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G PAX4 paired box 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.R133W (human)
CTD
RGD
PMID:15509590 PMID:15834548 RGD:2311633 RGD:2311634 NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:pancreatic islet (mouse) RGD PMID:16938896 RGD:2308934 NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO OMIM:222100 RGD
MouseDO
PMID:17383157 RGD:2311310 NCBI chr13:9,199,572...9,206,202 JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:14652638 RGD:2311676 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased expression:serum RGD PMID:17949258 RGD:2313270 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:19472040 RGD:2313779 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:altered expression:heart, brain, mitochondrion (mouse) RGD PMID:19542201 RGD:7242046 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PPBP pro-platelet basic protein ISO RGD PMID:14730686 RGD:1625598 NCBI chr 4:50,203,168...50,204,303
Ensembl chr 4:56,035,060...56,037,702
JBrowse link
G PRF1 perforin 1 ISO OMIM:222100 MouseDO NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
JBrowse link
G PRKCQ protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18978792 NCBI chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900
JBrowse link
G PRRC2A proline rich coiled-coil 2A onset ISO DNA:polymorphism RGD PMID:10987645 PMID:15842729 RGD:2306963 RGD:2306964 NCBI chr 6:31,281,722...31,298,825
Ensembl chr 6:32,171,621...32,188,729
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:11717249 RGD:6483441 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
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 chr10:23,356,165...23,359,579 JBrowse link
G PTH parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 onset
susceptibility
ISO DNA: snp: cds: C1858T
CTD Direct Evidence: marker/mechanism
RGD
CTD
OMIM
PMID:15004560 PMID:21190368 PMID:21873553 PMID:30224649 RGD:6484524 RGD:6484692 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO RGD PMID:7568143 PMID:19741189 RGD:2313289 RGD:729710 NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700
JBrowse link
G PTPRN2 protein tyrosine phosphatase receptor type N2 ISO OMIM:222100 RGD
MouseDO
PMID:12419281 PMID:18193190 RGD:2311682 RGD:2311684 NCBI chr 7:149,158,513...150,390,077
Ensembl chr 7:160,851,703...161,756,325
JBrowse link
G RAN RAN, member RAS oncogene family ISO human gene in a mouse model RGD PMID:22114719 RGD:9835390 NCBI chr12:128,497,407...128,503,049
Ensembl chr12:132,694,498...132,699,668
JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO mRNA:splice variant: heart (mouse) RGD PMID:27239029 RGD:329845874 NCBI chr22:16,740,707...17,031,415
Ensembl chr22:34,586,044...34,870,257
JBrowse link
G RETN resistin ISO protein:decreased expression:serum RGD PMID:15523596 RGD:7207163 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
JBrowse link
G SELE selectin E ISO protein:increased expression:serum RGD PMID:18791689 RGD:2313595 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
JBrowse link
G SELL selectin L ISO OMIM:222100 MouseDO NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393
JBrowse link
G SENP1 SUMO specific peptidase 1 ISO OMIM:222100 MouseDO NCBI chr12:40,624,200...40,689,837
Ensembl chr12:41,507,348...41,558,969
JBrowse link
G SERPINA7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:1867879 RGD:2312330 NCBI chr  X:95,163,842...95,169,230
Ensembl chr  X:105,541,475...105,548,132
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:serum RGD PMID:17971181 RGD:2312345 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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 chr12:108,977,344...109,024,029 JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:SNP:intron:rs3731865 (human)
DNA:polymorphism: :274C>T (human)
CTD Direct Evidence: marker/mechanism
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 chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
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 chr10:113,823,005...113,862,451
Ensembl chr10:117,250,639...117,290,064
JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr10:67,789,060...67,833,278
Ensembl chr10:70,317,882...70,358,482
JBrowse link
G SOD1 superoxide dismutase 1 ISO DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) RGD PMID:18423055 RGD:2312364 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human) RGD PMID:18423055 RGD:2312364 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:18682608 RGD:2308812 NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO OMIM:222100 MouseDO NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:insertion:intron (human)
DNA:polymorphisms (human)
DNA:mutation:promoter (mouse)
RGD PMID:9129974 PMID:9300732 PMID:9458110 RGD:2312369 RGD:2312370 RGD:2312371 NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:1300236 PMID:17192492 RGD:2312368 RGD:2312373 NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
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 chr 6:168,714,214...168,732,744
Ensembl chr 6:173,800,240...173,826,909
JBrowse link
G TF transferrin ISO RGD PMID:22861364 RGD:7244379 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:urine RGD PMID:18979373 RGD:2306737 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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 chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
G THBD thrombomodulin disease_progression ISO protein:increased expression:plasma RGD PMID:11738074 RGD:2312458 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:serum RGD PMID:17020653 RGD:2312468 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
JBrowse link
G TLR2 toll like receptor 2 no_association ISO DNA:SNP: :rs3804100 (human)
DNA:SNP: :1350T>C (human)
protein:increased expression:monocyte
RGD PMID:15699513 PMID:17130564 PMID:17707128 PMID:18029454 PMID:19148143 RGD:2312679 RGD:2312683 RGD:2312684 RGD:2312686 RGD:2312687 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR3 toll like receptor 3 ISO DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) RGD PMID:16029432 RGD:5129476 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:monocyte RGD PMID:16728431 PMID:18029454 RGD:2312492 RGD:2312683 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19120272 PMID:23640034 RGD:2313253 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO RGD PMID:12882912 PMID:18057577 RGD:2312740 RGD:2312743 NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137
JBrowse link
G TNFSF4 TNF superfamily member 4 ISO OMIM:222100 MouseDO NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845
JBrowse link
G TYK2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Virus-induced diabetes ClinVar PMID:26288847 NCBI chr19:9,901,612...9,932,623
Ensembl chr19:10,565,490...10,594,541
JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:18678617 RGD:2313502 NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112
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 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20309012 RGD:5685388 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:10729383 RGD:13673887 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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 Ensembl chr 4:6,345,864...6,379,287 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 chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818
JBrowse link
G YY1 YY1 transcription factor treatment ISO DNA:SNPs:intron RGD PMID:15234341 PMID:15619288 RGD:9588271 RGD:9588274 NCBI chr14:80,859,491...80,903,651 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 chr10:6,053,549...6,103,863 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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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 chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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 chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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 chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
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 chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
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 chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
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 chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
type 1 diabetes mellitus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUMO4 small ubiquitin like modifier 4 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 OMIM
ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr 6:147,219,279...147,221,125 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 6:147,138,553...147,231,559
Ensembl chr 6:151,868,513...151,936,841
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 chr2B:68,939,341...68,943,516 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 chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... Ensembl chr 4:6,345,864...6,379,287 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... Ensembl chr 4:6,345,864...6,379,287 JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr 4:95,251,920...95,313,404
Ensembl chr 4:105,954,880...105,975,142
JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      endocrine system disease 5923
        autoimmune disease of endocrine system 354
          Graves' disease + 65
          Hirata disease 0
          autoimmune pancreatitis 1
          autoimmune polyendocrine syndrome + 26
          autoimmune thyroiditis + 34
          type 1 diabetes mellitus + 283
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      Immune & Inflammatory Diseases 5045
        immune system disease 4389
          primary immunodeficiency disease 3792
            autoimmune disease 2020
              autoimmune disease of endocrine system 354
                Graves' disease + 65
                Hirata disease 0
                autoimmune pancreatitis 1
                autoimmune polyendocrine syndrome + 26
                autoimmune thyroiditis + 34
                type 1 diabetes mellitus + 283
paths to the root