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
Accession: DOID:0060005
browse the term
Definition: An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO)
For additional species annotation, visit the
Alliance of Genome Resources .
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE
ClinVar
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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RT1-Bb
RT1 class II, locus Bb
severity
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human)
RGD
PMID:18155707
RGD:5147621
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Aire
autoimmune regulator
susceptibility
ISO IMP
Polyendocrinopathies, Autoimmune CTD Direct Evidence: marker/mechanism
CTD
PMID:16982213 , PMID:9921903 , PMID:29959280
RGD:1599008 , RGD:38599145
NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
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Aireem1Ang
autoimmune regulator; ZFN induced mutant1, Ang
IMP
RGD
PMID:29959280
RGD:38599145
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*03, HLA-DQ1*0401 (human) DNA:polymorphisms:cds:HLA-DQA1*0301 (human)
RGD
PMID:16254435 , PMID:12734793
RGD:5147646 , RGD:5147800
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQB1*0401 (human)
RGD
PMID:16254435
RGD:5147646
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DRB1*0405, HLA-DRB1*0802 (human)
RGD
PMID:16254435
RGD:5147646
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Aire
autoimmune regulator
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I ClinVar Annotator: match by synonym: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
OMIM ClinVar
PMID:1836330 PMID:2943776 PMID:6031738 PMID:9398839 PMID:9398840 PMID:9717837 PMID:9837820 PMID:9856486 PMID:9888391 PMID:9921903 PMID:10677297 PMID:10720083 PMID:10946904 PMID:11275943 PMID:11343230 PMID:11524731 PMID:11524733 PMID:11600535 PMID:11836330 PMID:12050215 PMID:12471056 PMID:12503856 PMID:12542742 PMID:12625412 PMID:12843157 PMID:14557425 PMID:14582926 PMID:14974083 PMID:15511668 PMID:15811934 PMID:16114041 PMID:16166780 PMID:16199547 PMID:16313305 PMID:16684821 PMID:16774540 PMID:16784312 PMID:16792967 PMID:16965330 PMID:17101293 PMID:17118990 PMID:17189144 PMID:17220063 PMID:17289071 PMID:17539912 PMID:17675238 PMID:18200029 PMID:18248641 PMID:18264745 PMID:18274776 PMID:18320920 PMID:18399903 PMID:18414213 PMID:18414681 PMID:18426830 PMID:18616706 PMID:18682433 PMID:18708298 PMID:18713028 PMID:18728167 PMID:19037923 PMID:19246027 PMID:19265170 PMID:19322061 PMID:19758376 PMID:19807739 PMID:19863576 PMID:20140861 PMID:20185822 PMID:20407228 PMID:20453472 PMID:20718774 PMID:21295522 PMID:21505073 PMID:21508664 PMID:21724609 PMID:21932610 PMID:22024611 PMID:22104652 PMID:22162465 PMID:23074189 PMID:23133448 PMID:23320549 PMID:23620608 PMID:24033266 PMID:24158785 PMID:25064028 PMID:25068407 PMID:25361846 PMID:25707324 PMID:25741868 PMID:26084028 PMID:26114819 PMID:26141571 PMID:26467025 PMID:26650942 PMID:26915675 PMID:27048654 PMID:27105486 PMID:27253668 PMID:27504588 PMID:27588307 PMID:27646917 PMID:27884173 PMID:28446514 PMID:28492532 PMID:28567288 PMID:28911151 PMID:28919897 PMID:29335648 PMID:29437776 PMID:29666621 PMID:30290665 PMID:30863741 PMID:31420020 PMID:31588815
NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
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Cfap410
cilia and flagella associated protein 410
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
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Dnmt3l
DNA methyltransferase 3 like
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,344,513...11,359,090
Ensembl chr20:11,344,514...11,359,090
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Gh1
growth hormone 1
ISO
RGD
PMID:22506635
RGD:10401267
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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Ghrh
growth hormone releasing hormone
ISO
RGD
PMID:22506635
RGD:10401267
NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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Icoslg
inducible T-cell co-stimulator ligand
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,330,000...11,340,307
Ensembl chr20:11,329,992...11,340,296
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Itgb2
integrin subunit beta 2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Krtap12-2
keratin associated protein 12-2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,620,616...11,620,945
Ensembl chr20:11,620,616...11,620,945
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LOC690460
similar to keratin associated protein 10-7
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,604,790...11,605,588
Ensembl chr20:11,604,790...11,605,588
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LOC690478
similar to keratin associated protein 10-7
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,655,967...11,656,884
Ensembl chr20:11,655,967...11,656,884
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Lrrc3
leucine rich repeat containing 3
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,488,514...11,491,354
Ensembl chr20:11,489,456...11,490,406
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Pfkl
phosphofructokinase, liver type
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,393,860...11,415,889
Ensembl chr20:11,393,877...11,415,882
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Pttg1ip
PTTG1 interacting protein
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,746,369...11,764,097
Ensembl chr20:11,746,370...11,764,233
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Sumo3
small ubiquitin-like modifier 3
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,726,488...11,737,050
Ensembl chr20:11,726,497...11,737,050
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Trpm2
transient receptor potential cation channel, subfamily M, member 2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,434,062...11,482,880
Ensembl chr20:11,436,267...11,482,051
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Tspear
thrombospondin-type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,501,510...11,529,210
Ensembl chr20:11,501,925...11,528,332
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Ube2g2
ubiquitin-conjugating enzyme E2G 2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,700,089...11,721,823
Ensembl chr20:11,700,089...11,721,838
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*01, HLA-DQA1*03 (human)
RGD
PMID:21388354
RGD:5147565
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human)
RGD
PMID:21388354
RGD:5147565
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*15 (human)
RGD
PMID:21388354
RGD:5147565
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Bank1
B-cell scaffold protein with ankyrin repeats 1
onset
ISO
DNA:SNP: :rs3733197(human)
RGD
PMID:24127308
RGD:9684981
NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
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Cd4
Cd4 molecule
treatment
ISO
RGD
PMID:1680568
RGD:10058966
NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP:3' utr:6230G>A (rs3087243) (human) ClinVar Annotator: match by term: Hashimoto's thyroiditis DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532 , PMID:16352685 , PMID:14986169 , PMID:9398726
RGD:2302003 , RGD:7421515 , RGD:1300386
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Gja1
gap junction protein, alpha 1
IEP
mRNA,protein:decreased expression, altered expression:thyroid gland:
RGD
PMID:8770903
RGD:7349390
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Gjb1
gap junction protein, beta 1
IEP
mRNA,protein:decreased expression, altered expression:thyroid gland:
RGD
PMID:8770903
RGD:7349390
NCBI chr X:71,272,030...71,279,973
Ensembl chr X:71,272,042...71,279,977
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Gjb2
gap junction protein, beta 2
IEP
mRNA,protein:decreased expression, altered expression:thyroid gland:
RGD
PMID:8770903
RGD:7349390
NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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Ifng
interferon gamma
IEP
mRNA:increased expression:thyroid:
RGD
PMID:10560963
RGD:10755769
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il17a
interleukin 17A
ISO
protein:increased expression:thyroid gland
RGD
PMID:17046971
RGD:4841878
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il4
interleukin 4
IMP
RGD
PMID:9892610
RGD:8142396
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
severity
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)
RGD
PMID:19301205
RGD:2307256
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Lrp2
LDL receptor related protein 2
ISO
RGD
PMID:10404822
RGD:1641847
NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon: associated with hepatitis C;DNA:SNP:exon:
RGD
PMID:22360648 , PMID:19703233
RGD:8693703 , RGD:14696815
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Psmb9
proteasome 20S subunit beta 9
ISO
DNA:missense mutation: cds: Arg60His
RGD
PMID:12189117
RGD:6483439
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
RGD
PMID:22374238
RGD:6484667
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:12948297
RGD:2301816
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human)
RGD
PMID:20825955
RGD:5147571
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Da
RT1 class II, locus Da
ISO
RGD
PMID:12126634
RGD:5147805
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:21683551 , PMID:12126634 , PMID:20825955
RGD:5147557 , RGD:5147805 , RGD:5147571
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Tg
thyroglobulin
susceptibility
ISO
ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:608175 DNA:SNPs, haplotype:exon:multiple
ClinVar OMIM CTD
PMID:10403171 PMID:12915634 PMID:14657345 PMID:15579800 PMID:19339519 PMID:21757724 PMID:24033266 PMID:25741868 PMID:28942902 PMID:29385629 PMID:29590070 , PMID:21683551 , PMID:14657345
RGD:5147557 , RGD:8548629
NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
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Tlr3
toll-like receptor 3
ISO
protein:increased expression:thyroid gland (human)
RGD
PMID:15661832
RGD:5128798
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tnf
tumor necrosis factor
ISO
RGD
PMID:17046971
RGD:4841878
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952073
NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
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Zfat
zinc finger and AT hook domain containing
susceptibility
ISO
ClinVar Annotator: match by OMIM:608175 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11440990 PMID:15294872
NCBI chr 7:109,037,777...109,207,511
Ensembl chr 7:109,037,845...109,205,354
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION ClinVar Annotator: match by OMIM:614296
OMIM ClinVar
PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 PMID:18544103 PMID:19877185 PMID:20069065 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25133958 PMID:25388789 PMID:25741868 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29529044
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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Cat
catalase
treatment
ISO
protein:decreased activity:blood: protein:increased activity:plasma:
RGD
PMID:20394549 , PMID:15158621
RGD:9071200 , RGD:9086875
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:18284633
RGD:8549459
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
severity no_association
ISO
associated with Graves Disease; DNA:SNP:promoter:-318C>T (human) protein:increased expression:serum:
RGD
PMID:16893393 , PMID:19734241 , PMID:22663548
RGD:7421511 , RGD:7421523 , RGD:7421521
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Icam1
intercellular adhesion molecule 1
ISO
DNA:polymorphism: :c.1405A>G (human)
RGD
PMID:14557478
RGD:8158124
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng
interferon gamma
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression,increased excretion:orbital tissue:
RGD
PMID:22159761
RGD:8548854
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-819C>T (human) protein:increased expression:serum
RGD
PMID:21067483 , PMID:11753760
RGD:7364859 , RGD:7365083
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il18
interleukin 18
treatment
ISO
RGD
PMID:12689659
RGD:8655878
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1rn
interleukin 1 receptor antagonist
severity susceptibility
ISO
protein:increased expression:serum (human) DNA:snp:exon:11100 C>T (rs315952) (human)
RGD
PMID:12186498 , PMID:19702713
RGD:7387296 , RGD:8549808
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
ISO
RGD
PMID:2786308
RGD:8662939
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il23r
interleukin 23 receptor
no_association susceptibility
ISO
DNA:SNPs: :rs10889677,rs2201841(human) DNA:SNPs: :rs2201841,rs10889677(human)
RGD
PMID:22663548 , PMID:18073300
RGD:7421521 , RGD:8549554
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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Kif1a
kinesin family member 1A
ISO
RGD
PMID:26451909
RGD:12911230
NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:14588098
RGD:8552818
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human)
RGD
PMID:17608818
RGD:7829763
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
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Serpine1
serpin family E member 1
severity
ISO
associated with Graves Disease;protein:increased expression:tears (human)
RGD
PMID:22385289
RGD:8547756
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-238G>A (rs361525) (human) DNA:SNP:promoter:-863C>A (human)
RGD
PMID:15219383 , PMID:16191343 , PMID:8444271
RGD:7365073 , RGD:12904066 , RGD:7794734
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
G
Tshr
thyroid stimulating hormone receptor
severity
ISO
DNA:SNP:intron:rs179247 (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:31705858 , PMID:22673349 , PMID:20237164
RGD:8548662 , RGD:8548673
NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
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Adipoq
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:increased expression:serum associated with thyroid diseases; protein:increased expression:serum
RGD
PMID:18997483 , PMID:20583542
RGD:5686818 , RGD:5686857
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human)
RGD
PMID:17143563
RGD:8548467
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
G
Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
G
B3gnt2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr14:107,592,336...107,617,189
Ensembl chr14:107,592,336...107,617,161
G
Btnl2
butyrophilin-like 2
onset
ISO
DNA:SNP: :rs17577980(human)
RGD
PMID:24684463
RGD:9685042
NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
G
C4a
complement C4A
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141
G
C4b
complement C4B (Chido blood group)
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,302,344...4,316,752
Ensembl chr20:4,302,344...4,316,715
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Cat
catalase
treatment
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:12919155
RGD:9068908
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
G
Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
G
Cd40
CD40 molecule
onset no_association
ISO
DNA:SNP:5' utr:-1C>T (human)
RGD
PMID:12593727 , PMID:18755875 , PMID:15307939
RGD:8547766 , RGD:8547778 , RGD:8547769
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:8875745
RGD:8547747
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
no_association susceptibility
ISO
DNA:SNP:promoter:-318C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:49G>A(human) DNA:SNP: :rs231779(human) DNA:SNP: :-318C>T(rs11571302)(human) DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human) DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)
CTD
PMID:19731979 PMID:21841780 PMID:23104008 , PMID:9861324 , PMID:10404810 , PMID:20352109 , PMID:14986169 , PMID:15785242 , PMID:12780750 , PMID:10369864 , PMID:9672157
RGD:2302000 , RGD:11352245 , RGD:7421517 , RGD:7421515 , RGD:7421507 , RGD:7421505 , RGD:1300388 , RGD:2302001
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
associated with Herpesviridae Infections
RGD
PMID:19903800
RGD:5147671
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
G
Dnmt1
DNA methyltransferase 1
treatment
ISO
DNA:polymorphism: :32204 G>A(human)
RGD
PMID:23039890
RGD:9588624
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
G
Esr2
estrogen receptor 2
susceptibility no_association
ISO
DNA:snp:intron:IVS8G>A (rs4986938) (human) DNA:repeat
RGD
PMID:17941906 , PMID:11180758
RGD:8693348 , RGD:10045850
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:thyroid gland, thyrocyte (human)
RGD
PMID:11422195
RGD:8662820
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Fkbp1b
FKBP prolyl isomerase 1B
ISO
RGD
PMID:15497458
RGD:1580387
NCBI chr 6:29,975,863...29,987,252
Ensembl chr 6:29,977,797...29,987,451
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Gc
GC, vitamin D binding protein
susceptibility
ISO
DNA:polymorphism:cds:p.T420K(human) CTD Direct Evidence: marker/mechanism DNA:repeats:intron
CTD OMIM
PMID:12050214 , PMID:16868893 , PMID:12050214
RGD:5509883 , RGD:5509886
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:17980001
RGD:8547807
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
G
Icam1
intercellular adhesion molecule 1
no_association onset
ISO
protein:increased expression:blood, lymphocyte DNA:SNP: :p.K469E (rs5498) (human) DNA:polymorphism: :c.721G>A (human)
RGD
PMID:12357047 , PMID:17873320 , PMID:14557478
RGD:8158121 , RGD:8547702 , RGD:8158124
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17535987
NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
G
Ifng
interferon gamma
susceptibility treatment
ISO
DNA:microsatellite repeats:intron: CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:+874A>T(human) DNA:repeats:intron: protein:increased expression:serum:
CTD
PMID:33132244 , PMID:9848715 , PMID:15544617 , PMID:16970687 , PMID:15068623 , PMID:2125901
RGD:8142372 , RGD:8157604 , RGD:8157599 , RGD:8142393 , RGD:8142373
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression:thyroid gland:
RGD
PMID:9857239
RGD:8548837
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Igf1r
insulin-like growth factor 1 receptor
ISO
protein: increased expression: blood: T cells and B cells
RGD
PMID:18832736
RGD:5686433
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
G
Il10
interleukin 10
no_association
ISO
DNA:SNP: :rs1800896 (human) DNA:SNPs:promoter:multiple protein:increased expression:serum DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD
PMID:21424183 , PMID:15497451 , PMID:19250272 , PMID:19882211
RGD:7364858 , RGD:7365074 , RGD:7365026 , RGD:7364862
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il13
interleukin 13
disease_progression susceptibility
ISO
DNA:SNP:promoter:-1112C>T (rs1800925) (human) DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)
RGD
PMID:21235536 , PMID:15483090
RGD:7829719 , RGD:8549544
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
G
Il17a
interleukin 17A
susceptibility
ISO
DNA:snp:intron:IVS1+18G>A (rs3819025) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244 , PMID:22816799
RGD:9068423
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Il18
interleukin 18
no_association
ISO
protein:increased expression:serum DNA:SNPs:promoter, exon:multiple
RGD
PMID:12689659 , PMID:16571086
RGD:8655878 , RGD:8655916
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il1b
interleukin 1 beta
ISO
DNA:SNP:promoter:-511C>T (human)
RGD
PMID:16025481 , PMID:2674184
RGD:7401177 , RGD:7401207
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il2
interleukin 2
ISO
RGD
PMID:2279527
RGD:8662947
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
G
Il23r
interleukin 23 receptor
susceptibility no_association
ISO
DNA:SNP: :rs7530511(human) DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)
RGD
PMID:18073300 , PMID:19021011
RGD:8549554 , RGD:8549564
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
G
Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Il6
interleukin 6
disease_progression
ISO
DNA:polymorphism:promoter:-572C>G(human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD
PMID:16372246 , PMID:21235536 , PMID:12818091
RGD:7829719 , RGD:7829750
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Il6r
interleukin 6 receptor
disease_progression
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246 , PMID:12818091
RGD:7829750
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
G
Itgb3
integrin subunit beta 3
ISO
RGD
PMID:23109646
RGD:8693341
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
G
Lta
lymphotoxin alpha
no_association
ISO
DNA:polymorphism
RGD
PMID:1346144 , PMID:7928443
RGD:8548778 , RGD:8548790
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T(human)
RGD
PMID:20941748
RGD:7387246
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human)
RGD
PMID:21465496
RGD:8657376
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
G
Pdcd1
programmed cell death 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: SNP: cds: C1858T CTD Direct Evidence: marker/mechanism DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human) DNA:SNP, haplotype:promoter:-1123G>C (human)
CTD
PMID:21190368 , PMID:15504986 , PMID:17608818 , PMID:18687223
RGD:6484538 , RGD:7829763 , RGD:7829738
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
G
Rnaset2
ribonuclease T2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21841780
NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms::HLA-DQA1*0501;
RGD
PMID:8706297
RGD:8547558
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human) DNA:polymorphism:cds:HLA-DQB1*0602 (human)
RGD
PMID:10468909 , PMID:11272094
RGD:7421572 , RGD:7483568
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
RT1-CE13
RT1 class I, locus CE13
susceptibility onset
ISO
DNA:polymorphisms:cds:HLA-B*46 (human) DNA:polymorphisms:cds:HLA-B39 (human) DNA:polymorphisms:cds:HLA-B8 (human) DNA:polymorphisms, haplotype:cds:HLA-B8 (human) DNA:polymorphisms, haplotype:cds:HLA-B*5801 (human)
RGD
PMID:23329888 , PMID:8894996 , PMID:2401095 , PMID:8096501 , PMID:12694583
RGD:7365094 , RGD:7365110 , RGD:7365118 , RGD:7365112 , RGD:7365098
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human) DNA:polymorphism: :HLA-DRB1*0301(human) DNA:polymorphism: :HLA-DRB1*03(human)
RGD
PMID:21307958 , PMID:11263477 , PMID:15219383
RGD:7365065 , RGD:7365089 , RGD:7365073
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Serpine1
serpin family E member 1
treatment
ISO
protein:increased expression:tears (human)
RGD
PMID:11980614 , PMID:22385289
RGD:8547709 , RGD:8547756
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16195404
RGD:7207875
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
G
Stat6
signal transducer and activator of transcription 6
ISO
RGD
PMID:15117875
RGD:7244137
NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
G
Tg
thyroglobulin
treatment no_association
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum DNA:SNP:exon DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human) DNA:SNPs:exon:multiple
CTD
PMID:33132244 , PMID:14636875 , PMID:95586 , PMID:17550957 , PMID:22662162 , PMID:18656705
RGD:8548606 , RGD:8548645 , RGD:8548644 , RGD:8548643 , RGD:8548630
NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :-308G>A(rs1800629)(human) DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human) DNA:polymorphism: :-863A>C
RGD
PMID:15219383 , PMID:19732761 , PMID:17348243
RGD:7365073 , RGD:7394807 , RGD:7394790
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
G
Tp53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.p.R72P(human)
RGD
PMID:17980001
RGD:8547807
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
G
Tpo
thyroid peroxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
G
Tshb
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
G
Tshr
thyroid stimulating hormone receptor
no_association treatment
ISO
DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human) DNA:polymorphism: :pD727E (human) DNA:SNPs: :multiple DNA:SNPs:intron:rs179247, rs12101255 (human)
CTD OMIM
PMID:1955520 PMID:21841780 , PMID:21642385 , PMID:9528975 , PMID:21155717 , PMID:24518168 , PMID:7828357 , PMID:11887032 , PMID:23538203 , PMID:19244275 , PMID:21124799
RGD:8548654 , RGD:8548669 , RGD:8548665 , RGD:8548664 , RGD:8548663 , RGD:8548661 , RGD:8548657 , RGD:8548656 , RGD:8548655
NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
G
Tshr-ps1
thyroid stimulating hormone receptor, pseudogene 1
ISO
RGD
PMID:23538203
RGD:8548657
NCBI chr 4:93,447,412...93,448,194
G
Vdr
vitamin D receptor
no_association
ISO
DNA:SNPs: :rs731236, rs7975232 (human) DNA:SNPs: :rs1544410, rs10735810 (human) DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs2228570 (human) DNA:SNPs: :rs1544410, rs7975232 (human) DNA:polymorphisms, haplotype
GAD RGD
PMID:15118671 , PMID:16279845 , PMID:16279845 , PMID:17506475 , PMID:11134121 , PMID:11134121 , PMID:16100768
RGD:1331525 , RGD:8158053 , RGD:8158053 , RGD:8157632 , RGD:8157628 , RGD:8157628 , RGD:8157624
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
G
Vegfa
vascular endothelial growth factor A
ISO
DNA:SNPs: :-2578A>C,-460T>C,405G>C(human)
RGD
PMID:22771446
RGD:7483621
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNP: :rs3733197(human)
RGD
PMID:24127308
RGD:9684981
NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
G
C1s
complement C1s
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11390518
NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
G
Cat
catalase
ISO
protein:increased activity:plasma:
RGD
PMID:20204550
RGD:9068926
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
G
Cd40
CD40 molecule
ISO
protein:increased expression:serum
RGD
PMID:17558708
RGD:8547767
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:17558708
RGD:8547767
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
ClinVar Annotator: match by term: Hashimoto Disease DNA:SNP:cds:+49A/G (rs231775)(human)
OMIM ClinVar
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532 , PMID:18752454
RGD:7421513
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
G
Esr2
estrogen receptor 2
no_association
ISO
DNA:repeat
RGD
PMID:11180758
RGD:10045850
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human)
RGD
PMID:15242568
RGD:8662824
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:throcyte:
RGD
PMID:9161695
RGD:12910543
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:7626551
RGD:8547592
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng
interferon gamma
severity
ISO
DNA:polymorphism:cds:+874A>T(human)
RGD
PMID:16820703
RGD:8142375
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il6
interleukin 6
ISO
DNA:polymorphism:promoter:-572C>G(human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246 , PMID:21235536
RGD:7829719
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:22360648
RGD:8693703
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:19924240
RGD:6483332
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp: cds: rs2476601
RGD
PMID:15719322
RGD:6484548
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:19254248
RGD:5147613
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms (human) associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human)
RGD
PMID:19254248 , PMID:8157715
RGD:5147613 , RGD:7483569
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:19254248
RGD:5147613
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Tg
thyroglobulin
no_association
ISO IDA
CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:multiple
CTD
PMID:30373627 , PMID:14636875 , PMID:3052944 , PMID:18656705 , PMID:21559421
RGD:8548606 , RGD:8548647 , RGD:8548630 , RGD:8548607
NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
G
Tshr
thyroid stimulating hormone receptor
ISO
DNA:SNP:intron:rs3783938 (human)
RGD
PMID:22673349
RGD:8548662
NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
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Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:19471859 PMID:28492532 PMID:30443250
NCBI chr X:15,742,978...15,754,925
Ensembl chr X:15,742,978...15,754,925
G
Dock8
dedicator of cytokinesis 8
ISO
DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human)
RGD
PMID:29058101
RGD:40886273
NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
G
Foxp3
forkhead box P3
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked ClinVar Annotator: match by OMIM:304790
ClinVar CTD OMIM
PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 PMID:11295725 PMID:12161590 PMID:14671208 PMID:15096376 PMID:16741580 PMID:16920951 PMID:17576681 PMID:17635943 PMID:18414213 PMID:18931102 PMID:18951619 PMID:19471859 PMID:20650610 PMID:21036387 PMID:24033266 PMID:24250806 PMID:24258212 PMID:24982679 PMID:25326164 PMID:25741868 PMID:25911531 PMID:26661331 PMID:27783946 PMID:28492532 PMID:28778586 PMID:28783662 PMID:29896738 PMID:30443250 , PMID:11137992
RGD:1598959
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Phkg2
phosphorylase kinase catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Mauriac syndrome
ClinVar
PMID:27207549
NCBI chr 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18025464
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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Ace
angiotensin I converting enzyme
disease progression
ISO
protein:increased activity:serum (human) DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:1336356 , PMID:9025006
RGD:7829770 , RGD:7829799
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Ache
acetylcholinesterase
ISO
RGD
PMID:2658981
RGD:2312438
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
G
Acp1
acid phosphatase 1
onset
ISO
RGD
PMID:15586390 , PMID:11912546
RGD:2313182 , RGD:2313186
NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19640330
RGD:2313235
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Adrb1
adrenoceptor beta 1
IEP
RGD
PMID:21491159
RGD:6893642
NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
G
Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP, haplotype: :557G>A (p.G82S) (human) DNA:SNP:promoter:-374T>A (human) protein:decreased expression:serum (human) protein:increased expression:renal cortex (mouse)
RGD
PMID:18420491 , PMID:10553500 , PMID:16969646 , PMID:21870072 , PMID:21738623
RGD:2325657 , RGD:8695961 , RGD:8695958 , RGD:7244183 , RGD:7243937
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Aif1
allograft inflammatory factor 1
onset
IDA ISO
DNA:polymorphism:intron:rs2259571 (human)
RGD
PMID:9391121 , PMID:18987644
RGD:2313043 , RGD:2313199
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23499715
NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
G
Aldh2
aldehyde dehydrogenase 2 family member
ISO
RGD
PMID:12706323
RGD:2311151
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
G
Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:17940120
RGD:5509611
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
G
Aoc3
amine oxidase, copper containing 3
ISO
protein:increased expression:serum
RGD
PMID:12466139
RGD:2313825
NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
G
Apoa1
apolipoprotein A1
ISO
protein:increased expression:plasma
RGD
PMID:9578960
RGD:2313962
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
G
Apoa2
apolipoprotein A2
ISO
protein:decreased expression:plasma
RGD
PMID:9578960
RGD:2313962
NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
G
Apob
apolipoprotein B
ISO
RGD
PMID:19171731 , PMID:1579407
RGD:2313980 , RGD:2313972
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
G
Apoc3
apolipoprotein C3
susceptibility
ISO IMP
DNA:polymorphisms: :multiple
RGD
PMID:1579407 , PMID:21670290 , PMID:16505251
RGD:2313972 , RGD:7207205 , RGD:2306765
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
G
Apoe
apolipoprotein E
ISO
protein:decreased expression:urine (human)
GAD RGD
PMID:15118671 , PMID:22678621
RGD:1331525 , RGD:6903197
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Apoh
apolipoprotein H
ISO
RGD
PMID:9472678
RGD:2313990
NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
G
Apom
apolipoprotein M
susceptibility
ISO
DNA:SNP:promoter:g.-778T>C(rs805296)(human)
RGD
PMID:19007767
RGD:2314238
NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073
G
Arntl2
aryl hydrocarbon receptor nuclear translocator-like 2
ISO
DNA:SNPs:exon:multiple
RGD
PMID:16893914
RGD:2314359
NCBI chr 4:181,103,774...181,158,415
Ensembl chr 4:181,103,774...181,214,994
G
Avp
arginine vasopressin
IAGP
RGD
PMID:13995944 , PMID:5692127
RGD:2314661 , RGD:632128
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
G
Avpdi
arginine vasopressin; diabetes insipidus mutant
IAGP
RGD
PMID:13995944 , PMID:5692127
RGD:2314661 , RGD:632128
G
B2m
beta-2 microglobulin
ISO
RGD
PMID:11572996 , PMID:15446308
RGD:2311238 , RGD:2311235
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
G
Bach2
BTB domain and CNC homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
G
Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNP: :rs3733197(human)
RGD
PMID:24342660
RGD:9684973
NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
G
Bche
butyrylcholinesterase
onset
ISO
DNA:polymorphism: :p.A539T (human)
RGD
PMID:17026497
RGD:2306779
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
G
Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:plasma protein:increased expression:serum:
RGD
PMID:21041817 , PMID:9850345
RGD:7207232 , RGD:7207419
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
G
Btc
betacellulin
susceptibility
ISO
DNA:polymorphism:intron:IVS4-4C>T (human)
RGD
PMID:16683131
RGD:2306966
NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
G
C1qtnf6
C1q and TNF related 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 7:119,746,150...119,752,727
Ensembl chr 7:119,746,118...119,753,290
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C3
complement C3
ISO
RGD
PMID:3253105
RGD:2314031
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
Casp12
caspase 12
IEP ISO
protein:increased expression:hippocampus CTD Direct Evidence: marker/mechanism
CTD
PMID:23499715 , PMID:15855338
RGD:2311451
NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
G
Casp3
caspase 3
IEP
protein:increased activity:hippocampus
RGD
PMID:15855338
RGD:2311451
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
G
Casp8
caspase 8
ISO
RGD
PMID:12753807
RGD:2311431
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
G
Casp9
caspase 9
ISO
RGD
PMID:17880769 , PMID:14617576
RGD:2311245 , RGD:2311322
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15111504
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Cbl
Cbl proto-oncogene
IEP
mRNA:decreased expression:pancreatic lymph node, mast cell (rat)
RGD
PMID:17082646
RGD:1598972
NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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Cblb
Cbl proto-oncogene B
no_association susceptibility
ISO IDA IAGP
DNA:SNP:exon:rs3772534 (human) DNA:nonsense mutation (rat) DNA:missense mutations: :multiple (human) DNA:SNPs: :multiple (human)
RGD
PMID:17209142 , PMID:12118252 , PMID:12118252 , PMID:18201552 , PMID:15629882 , PMID:14961073
RGD:2314039 , RGD:625457 , RGD:625457 , RGD:2314037 , RGD:2314040 , RGD:2314041
NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
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Ccl11
C-C motif chemokine ligand 11
IEP
protein:increased expression:serum
RGD
PMID:23049540
RGD:7248415
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Ccl2
C-C motif chemokine ligand 2
onset
ISO
protein:increased expression:serum mRNA:increased expression:pancreatic islet (mouse)
RGD
PMID:19092169 , PMID:11317664
RGD:2306983 , RGD:8549575
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21340626
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
DNA:SNPs:rs4251719, rs2306630, rs2107538 (human)
RGD
PMID:16855620
RGD:2307102
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
G
Ccr2
C-C motif chemokine receptor 2
no_association
ISO
DNA:polymorphism DNA:polymorphism: :p.V64I (human)
RGD
PMID:12770795 , PMID:10400139
RGD:2313562 , RGD:2313564
G
Ccr5
C-C motif chemokine receptor 5
no_association
ISO IEP
protein:decreased expression:blood, mononuclear cell DNA:frameshift mutation: :p.S185_T195del (rs333) (human) mRNA:increased expression:splenocyte (rat)
RGD
PMID:12145160 , PMID:23773920 , PMID:15240727
RGD:2317571 , RGD:8551818 , RGD:4890459
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd14
CD14 molecule
ISO
protein:increased expression:monocyte
RGD
PMID:14614560 , PMID:10831941
RGD:2314173 , RGD:2314175
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
G
Cd28
Cd28 molecule
onset
ISO
DNA:polymorphism:intron (human) protein:decreased expression:T cell
RGD
PMID:11685455 , PMID:15504310 , PMID:9410902
RGD:2307199 , RGD:2307197 , RGD:2307201
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
G
Cd36
CD36 molecule
ISO
protein:increased expression:heart
RGD
PMID:7544802
RGD:2307219
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
G
Cd38
CD38 molecule
disease_progression
ISO ISS
OMIM:222100
MouseDO
PMID:16459468 , PMID:12488956 , PMID:16920929
RGD:2307230 , RGD:2307231 , RGD:2307229
NCBI chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672
G
Cd40
CD40 molecule
ISO
protein:increased expression:plasma
RGD
PMID:22505539
RGD:6893375
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cd40lg
CD40 ligand
treatment
ISO IMP
protein:increased expression:serum
RGD
PMID:16505242 , PMID:26716812 , PMID:12419284 , PMID:16611325 , PMID:15448088
RGD:2314212 , RGD:11344963 , RGD:8547798 , RGD:5491182 , RGD:2314220
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Cd69
Cd69 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 4:163,041,147...163,049,065
Ensembl chr 4:163,041,141...163,049,084
G
Cd80
Cd80 molecule
ISO
RGD
PMID:19658094
RGD:5132624
NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
G
Cd86
CD86 molecule
onset
ISO
human gene in mouse model protein:increased expression:dendritic cell protein:decreased expression:dendritic cells protein:decreased expression:macrophage,dendritic cell,T cell
RGD
PMID:17947667 , PMID:12742378 , PMID:18316361 , PMID:10679081 , PMID:15356107 , PMID:16232222
RGD:4892258 , RGD:2313920 , RGD:2313906 , RGD:2313927 , RGD:2313917 , RGD:2313911
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
G
Cdk4
cyclin-dependent kinase 4
ISO ISS
OMIM:222100
MouseDO
PMID:10319860
RGD:2314613
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
G
Cel
carboxyl ester lipase
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1 protein:increased activity:serum
ClinVar
PMID:18414213 PMID:25741868 , PMID:10580419 , PMID:9536927
RGD:2313967 , RGD:2313969
NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
G
Cfb
complement factor B
ISO
protein:increased expression:serum DNA:polymorphism
RGD
PMID:3907907 , PMID:19000152
RGD:2311338 , RGD:2311335
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:18957531
RGD:4892627
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
G
Chrm2
cholinergic receptor, muscarinic 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18603373
NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
G
Clec16a
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:rs725613 (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron:rs2903692A (human)
CTD
PMID:17632545 PMID:18946483 , PMID:18946483 , PMID:19221398
RGD:2313978 , RGD:5491176
NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
G
Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20012460 , PMID:17603912
RGD:2314682
NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD
PMID:20012460 , PMID:22864910 , PMID:20012460
RGD:6906966 , RGD:8547537
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNP:promoter:-1661A>G (human) DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human) DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human)
RGD
PMID:16671945 , PMID:9259273 , PMID:18443194 , PMID:8817351
RGD:2301995 , RGD:1300385 , RGD:2301974 , RGD:2301958
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
G
Ctsb
cathepsin B
susceptibility
ISO
RGD
PMID:19664906
RGD:2315524
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
G
Ctsh
cathepsin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
G
Ctsl
cathepsin L
susceptibility
ISO
RGD
PMID:19664906
RGD:2315524
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO IMP
protein:increased expression:serum
RGD
PMID:16148094 , PMID:19046227 , PMID:16339582
RGD:2311363 , RGD:2311358 , RGD:2311362
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
G
Cxcl12
C-X-C motif chemokine ligand 12
onset no_association
ISO
DNA:polymorphism:3' utr (human) mRNA:increased expression:bone marrow
RGD
PMID:11334429 , PMID:14522095 , PMID:14679085 , PMID:12383202 , PMID:18793419
RGD:2306563 , RGD:2306560 , RGD:2306561 , RGD:2306562 , RGD:2301942
NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
susceptibility
ISO
DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human) DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
RGD
PMID:17223345 , PMID:17606874
RGD:2307312 , RGD:2307311
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
mRNA:increased expression:leukocyte
RGD
PMID:12743671
RGD:2313684
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
G
Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
susceptibility
ISO
DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)
RGD
PMID:17607662
RGD:2315692
NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
G
Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23499715
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
G
Ddx39b
DExD-box helicase 39B
ISO
RGD
PMID:11756005
RGD:13702905
NCBI chr20:4,806,103...4,818,600
Ensembl chr20:4,806,108...4,818,568
G
Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:increased expression:CD4+ T cell:
RGD
PMID:21864931
RGD:9589109
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
G
Dock8
dedicator of cytokinesis 8
IAGP
RGD
PMID:26363782
RGD:11532657
NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
G
Dock8m1Ztm
dedicator of cytokinesis 8;mutant 1, Ztm
IAGP
RGD
PMID:26363782
RGD:11532657
G
Dpp4
dipeptidylpeptidase 4
ISO
RGD
PMID:19073764
RGD:2313702
NCBI chr 3:48,291,055...48,372,672
Ensembl chr 3:48,291,055...48,372,672
G
Dusp1
dual specificity phosphatase 1
IEP
RGD
PMID:7485483
RGD:2298693
NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
G
E2f1
E2F transcription factor 1
ISO ISS
E2f1/E2f2 double knockout OMIM:222100
MouseDO
PMID:15146237
RGD:1300306
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
G
E2f2
E2F transcription factor 2
ISO
E2f1/E2f2 double knockout
RGD
PMID:15146237
RGD:1300306
NCBI chr 5:154,516,611...154,540,228
Ensembl chr 5:154,522,119...154,540,265
G
Edn1
endothelin 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:2198188
RGD:4144835
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Egfr
epidermal growth factor receptor
IEP
protein:decreased phosphorylation:liver (rat)
RGD
PMID:2833110
RGD:5131531
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
DNA:polymorphism
RGD
PMID:15483661
RGD:1601017
NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
G
Ets1
ETS proto-oncogene 1, transcription factor
ISO
DNA:polymorphism (human)
RGD
PMID:1982251 , PMID:1686010
RGD:2313850 , RGD:2313901
NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
G
F7
coagulation factor VII
ISO
protein:increased activity, expression:plasma (human) associated with Kidney Failure; protein:increased expression:plasma (human) DNA:polymorphism:cds:R353Q (human)
RGD
PMID:11297753 , PMID:15860378 , PMID:9686915 , PMID:11146704
RGD:2312384 , RGD:2312383 , RGD:2312389 , RGD:2312385
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:insulin-secreting cells
RGD
PMID:9254659 , PMID:19120316
RGD:2315754 , RGD:2315742
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Faslg
Fas ligand
ISO ISS IDA
protein:increased expression:lymphocyte OMIM:222100 mRNA:decreased expression:lymphocyte
MouseDO
PMID:19120316 , PMID:17324464 , PMID:16180659
RGD:2315742 , RGD:2315748 , RGD:2315751
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
G
Fcgr2a
Fc fragment of IgG receptor IIa
ISO
RGD
PMID:17617565
RGD:5508453
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
G
Fgf21
fibroblast growth factor 21
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23499715
NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
G
Foxo1
forkhead box O1
ISO
protein:altered localization:nucleus,liver cell:
RGD
PMID:15546000
RGD:10045358
NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
G
Foxp3
forkhead box P3
susceptibility
ISO
associated with Autoimmune Diseases;DNA:mutations: :multiple (human) ClinVar Annotator: match by OMIM:222100
ClinVar
PMID:25741868 , PMID:11137992
RGD:1598959
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
G
Fuca1
alpha-L-fucosidase 1
ISO
protein:decreased activity:plasma
RGD
PMID:7304074
RGD:2315949
NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
G
G6pc2
glucose-6-phosphatase catalytic subunit 2
ISS
OMIM:222100
MouseDO
NCBI chr 3:55,464,528...55,467,170
G
G6pd
glucose-6-phosphate dehydrogenase
ISO
protein:decreased expression:erythrocyte
RGD
PMID:15914531
RGD:2307348
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
G
Gad2
glutamate decarboxylase 2
susceptibility onset
ISO ISS
OMIM:222100
MouseDO
PMID:19085183 , PMID:19741189 , PMID:19188044 , PMID:18005036
RGD:2313294 , RGD:2313289 , RGD:2313292 , RGD:2313296
NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
G
Gal
galanin and GMAP prepropeptide
IEP ISO
mRNA, protein:increased expression:celiac ganglion protein:increased expression:plasma
RGD
PMID:16487586 , PMID:16060906
RGD:1624331 , RGD:2313736
NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
G
Gc
GC, vitamin D binding protein
ISO
DNA:polymorphism:exon:p.D416E(human)
RGD
PMID:11239517
RGD:2315558
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
G
Gh1
growth hormone 1
ISO IDA
protein:increased expression:serum
RGD
PMID:3097114 , PMID:7298798 , PMID:2888037
RGD:2315684 , RGD:2315674 , RGD:2315685
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
G
Ghr
growth hormone receptor
ISO
mRNA, protein:decreased expression:kidney, liver
RGD
PMID:11469393 , PMID:12054124
RGD:2307367 , RGD:2307366
NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
G
Gimap5
GTPase, IMAP family member 5
IAGP
DNA:frameshift deletion
RGD
PMID:12097339 , PMID:12031988
RGD:619544 , RGD:633092
NCBI chr 4:78,377,228...78,386,683
Ensembl chr 4:78,378,144...78,385,577
G
Glis3
GLIS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
G
Gpx3
glutathione peroxidase 3
ISO
protein:decreased activity:plasma (human)
RGD
PMID:16489975
RGD:2312634
NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
G
Gstm1
glutathione S-transferase mu 1
onset
ISO
RGD
PMID:16390810
RGD:2306629
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Gstt1
glutathione S-transferase theta 1
IEP
mRNA:decreased expression:islets of Langerhans (rat)
RGD
PMID:23111281
RGD:7794858
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
G
Hdac1
histone deacetylase 1
ISO
protein:increased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
G
Hdac2
histone deacetylase 2
ISO
protein:decreased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
G
Hdac3
histone deacetylase 3
ISO
protein:decreased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
G
Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1 ClinVar Annotator: match by OMIM:222100
OMIM ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9075819 PMID:9166684 PMID:9313763 PMID:9392505 PMID:9439666 PMID:9754819 PMID:10333057 PMID:10447526 PMID:10585442 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11296231 PMID:11315851 PMID:11393552 PMID:11719843 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:15649945 PMID:15928245 PMID:16274290 PMID:16562587 PMID:16917892 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18414213 PMID:18672310 PMID:18838325 PMID:19169489 PMID:19754856 PMID:19929997 PMID:20393147 PMID:21051477 PMID:21170474 PMID:21224407 PMID:21628466 PMID:21696527 PMID:21761282 PMID:22348187 PMID:22432108 PMID:23139355 PMID:23348805 PMID:23551881 PMID:23607861 PMID:24915262 PMID:25174781 PMID:25414397 PMID:25483937 PMID:25555642 PMID:25741868 PMID:26467025 PMID:27148439 PMID:27899486 PMID:28395978 PMID:28492532 PMID:28701371 PMID:28862987 PMID:29207974 PMID:29417725 PMID:30155490 PMID:30202817 PMID:30814848 PMID:31576961 PMID:31638168
NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
G
Hp
haptoglobin
treatment
IEP ISO IDA
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:16506275 , PMID:20975081 , PMID:20853098
RGD:11041804 , RGD:11041868
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
G
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16616286 , PMID:16616286 , PMID:11916625
RGD:2308923 , RGD:2308924
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
G
Iapp
islet amyloid polypeptide
ISO
protein:decreased expression:plasma
RGD
PMID:19033417 , PMID:19190104
RGD:2313357 , RGD:2313356
NCBI chr 4:176,509,863...176,517,903
Ensembl chr 4:176,510,696...176,516,083
G
Ica1
islet cell autoantigen 1
onset
ISO
mRNA, protein:decreased expression:thymus gland
RGD
PMID:11751995 , PMID:14679103 , PMID:8647206
RGD:2311487 , RGD:2311486 , RGD:2311488
NCBI chr 4:34,635,509...34,780,187
Ensembl chr 4:34,635,506...34,780,193
G
Icam1
intercellular adhesion molecule 1
susceptibility
ISO
protein:increased expression:plasma
RGD
PMID:16978373 , PMID:19373518
RGD:1625758 , RGD:2313468
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Ifng
interferon gamma
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21340626 , PMID:18644830 , PMID:8977415
RGD:2311493 , RGD:10755748
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Ifngr2
interferon gamma receptor 2
ISS
OMIM:222100
MouseDO
NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611
G
Igf1
insulin-like growth factor 1
severity
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24632065 , PMID:19156625 , PMID:15356074 , PMID:16887362
RGD:2306688 , RGD:2313769 , RGD:2313765
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Igf2
insulin-like growth factor 2
IEP
mRNA, protein:decreased expression:thymus
RGD
PMID:11307180
RGD:5510007
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
G
Igf2r
insulin-like growth factor 2 receptor
ISO
DNA:SNP (human)
RGD
PMID:15531531
RGD:2311611
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
G
Igfbp3
insulin-like growth factor binding protein 3
severity
ISO
RGD
PMID:16887362 , PMID:15356074
RGD:2313765 , RGD:2313769
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480 , PMID:17997340
RGD:2308949
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il15
interleukin 15
ISO
protein:increased expression:serum
RGD
PMID:16098919 , PMID:17670937
RGD:2313577 , RGD:2313574
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
G
Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:18359638
RGD:8655935
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
G
Il1a
interleukin 1 alpha
ISO
protein:increased expression:small intestine mucosa mRNA:increased expression:pancreatic islet, leukocyte
RGD
PMID:2405400 , PMID:17953531 , PMID:12941768 , PMID:8612552
RGD:2311075 , RGD:2311064 , RGD:2311065 , RGD:2311067
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
G
Il1b
interleukin 1 beta
ISO
mRNA:increased expression:peripheral blood, leukocyte (human)
RGD
PMID:21848584 , PMID:1797022
RGD:7175335 , RGD:7401233
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il1r1
interleukin 1 receptor type 1
ISO ISS
protein:decreased expression:pancreatic islet OMIM:222100 DNA:polymorphism DNA:SNP (human)
MouseDO
PMID:7835294 , PMID:8911996 , PMID:11197691
RGD:2311068 , RGD:6892703 , RGD:2311106
NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human) mouse model treated with human protein
RGD
PMID:9112337 , PMID:9158104
RGD:6907403 , RGD:6907407
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il2
interleukin 2
onset
ISO
RGD
PMID:17670937 , PMID:3514237
RGD:2313574 , RGD:10047089
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
G
Il20
interleukin 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715
G
Il21r
interleukin 21 receptor
ISO
RGD
PMID:19208913
RGD:6892930
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
G
Il27
interleukin 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
G
Il2ra
interleukin 2 receptor subunit alpha
onset
ISO
DNA:SNPs CTD Direct Evidence: marker/mechanism
CTD
PMID:17676041 PMID:19119414 PMID:19701192 PMID:30224649 , PMID:19119414 , PMID:19106270
RGD:2311527 , RGD:2311528
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
G
Il2rb
interleukin 2 receptor subunit beta
ameliorates
ISO
RGD
PMID:29367461
RGD:42733039
NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
G
Il4
interleukin 4
ISS
OMIM:222100
MouseDO
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Il6
interleukin 6
ISO
DNA:polymorphism:promoter:-174G>C (human) protein:increased expression:serum: protein:increased expression:extracellular space (mouse) protein:increased expression:extracellular space (human)
OMIM
PMID:19127455 , PMID:17725274 , PMID:16960101 , PMID:19382103
RGD:2307275 , RGD:7829749 , RGD:2307279 , RGD:2307193
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism CTD Direct Evidence: therapeutic
CTD
PMID:17151334 PMID:20620209 PMID:29420703 , PMID:18824271
RGD:2311114
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Irak3
interleukin-1 receptor-associated kinase 3
ISS
OMIM:222100
MouseDO
NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
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Isl1
ISL LIM homeobox 1
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:15161765
RGD:2311116
NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
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Itga2
integrin subunit alpha 2
ISO
protein:altered expression:thymocyte (mouse)
RGD
PMID:18567821
RGD:2307423
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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Itga4
integrin subunit alpha 4
treatment
ISO
RGD
PMID:7528925
RGD:13593534
NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
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Itpr3
inositol 1,4,5-trisphosphate receptor, type 3
ISO
OMIM
NCBI chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15838686 PMID:16087682 PMID:16205880 PMID:16339180 PMID:16602010 PMID:16609879 PMID:16636122 PMID:16670688 PMID:16731837 PMID:16816952 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17213273 PMID:17327377 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17901525 PMID:18025464 PMID:18414213 PMID:18548275 PMID:18662362 PMID:18924582 PMID:19065048 PMID:19247925 PMID:19345438 PMID:20220270 PMID:20466780 PMID:21352428 PMID:23434183 PMID:23462667 PMID:23959658 PMID:25308342 PMID:25741868 PMID:26467025 PMID:26839896 PMID:28460053 PMID:28480665
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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Klrk1
killer cell lectin like receptor K1
disease_progression
ISO
associated with lymphocytic choriomeningitis
RGD
PMID:22944096
RGD:38676492
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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Lgals3
galectin 3
IEP
RGD
PMID:16600178
RGD:9685204
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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Lipc
lipase C, hepatic type
ISO
protein:decreased expression:plasma (human)
RGD
PMID:9580247
RGD:2308845
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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Lta
lymphotoxin alpha
onset treatment susceptibility
ISO
protein:decreased expression:mononuclear cell DNA:polymorphism: :252A>G (human) DNA:SNP (human) DNA:polymorphism: :249A>G (human)
RGD
PMID:9342542 , PMID:8242903 , PMID:12622777 , PMID:19120272 , PMID:11141334 , PMID:17989340
RGD:2313264 , RGD:8548842 , RGD:2313262 , RGD:2313253 , RGD:2313263 , RGD:2313257
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Madcam1
mucosal vascular addressin cell adhesion molecule 1
ISO
RGD
PMID:9313747 , PMID:17827401
RGD:2311545 , RGD:2311544
NCBI chr 7:12,918,352...12,922,509
Ensembl chr 7:12,918,710...12,922,112
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Mbl2
mannose binding lectin 2
no_association
ISO
RGD
PMID:18361935
RGD:12910829
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mir146a
microRNA 146a
susceptibility
ISO
DNA:SNP: :rs2910164 (human)
RGD
PMID:28101643
RGD:24922224
NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
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Mir155
microRNA 155
susceptibility
ISO
DNA:SNP: :rs767649 (human)
RGD
PMID:28101643
RGD:24922224
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:kidney
RGD
PMID:23632630
RGD:13204760
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
susceptibility
ISO
DNA:transversion: :m.7778G>T (mouse)
RGD
PMID:19759059
RGD:5490297
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Mthfr
methylenetetrahydrofolate reductase
severity
ISO
DNA:transversion:cds:g.1298A>C (human)
RGD
PMID:18774994
RGD:6893652
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Ncam1
neural cell adhesion molecule 1
onset
ISO
protein:increased expression:pancreatic islet
RGD
PMID:15714132
RGD:2326066
NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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Neurod1
neuronal differentiation 1
no_association
ISO
DNA:polymorphism: :p.A45T (human) DNA:polymorphism:exon
RGD
PMID:15047635 , PMID:16357810 , PMID:16909454
RGD:2313487 , RGD:2313483 , RGD:2313481
NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
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Nog
noggin
ISO
mRNA, protein:increased expression:aorta
RGD
PMID:21193740
RGD:10430114
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
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Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666113
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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Nos2
nitric oxide synthase 2
ISO ISS
OMIM:222100
MouseDO
PMID:19535454
RGD:2313214
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666113
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Notch4
notch receptor 4
ISO
DNA: SNP: 5' utr: rs2395106
RGD
PMID:19143814
RGD:6480791
NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
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Pax4
paired box 4
susceptibility
ISO
DNA:polymorphism: :p.R133W (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:15509590 , PMID:15834548
RGD:2311634 , RGD:2311633
NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
protein:increased expression:pancreatic islet (mouse)
RGD
PMID:16938896
RGD:2308934
NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
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Pdx1
pancreatic and duodenal homeobox 1
ISO ISS
OMIM:222100
MouseDO
PMID:17383157
RGD:2311310
NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
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Plat
plasminogen activator, tissue type
ISO
RGD
PMID:14652638
RGD:2311676
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Pon1
paraoxonase 1
ISO
protein:decreased expression:serum
RGD
PMID:17949258
RGD:2313270
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Ppara
peroxisome proliferator activated receptor alpha
ISO
RGD
PMID:19472040
RGD:2313779
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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Ppargc1a
PPARG coactivator 1 alpha
ISO
mRNA:altered expression:heart, brain, mitochondrion (mouse)
RGD
PMID:19542201
RGD:7242046
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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Ppbp
pro-platelet basic protein
ISO
RGD
PMID:14730686
RGD:1625598
NCBI chr14:18,852,433...18,853,237
Ensembl chr14:18,851,954...18,853,315
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Prf1
perforin 1
ISS
OMIM:222100
MouseDO
NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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Prkcq
protein kinase C, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
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Prrc2a
proline-rich coiled-coil 2A
onset
ISO
DNA:polymorphism
RGD
PMID:10987645 , PMID:15842729
RGD:2306964 , RGD:2306963
NCBI chr20:5,139,881...5,155,371
Ensembl chr20:5,139,882...5,155,293
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Prss1
serine protease 1
IEP
protein:increased expression:serum
RGD
PMID:3833185
RGD:1599966
NCBI chr 4:70,776,046...70,779,249
Ensembl chr 4:70,776,046...70,779,249
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Psmb8
proteasome 20S subunit beta 8
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr20:3,990,809...3,993,772
Ensembl chr20:3,990,613...3,993,769
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:11717249
RGD:6483441
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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Pth
parathyroid hormone
ISO
DNA:snp:exon:g.350C>A rs6256 (human)
RGD
PMID:22777106
RGD:7242744
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
susceptibility onset
ISO IAGP
DNA:snp: cds: 1858C>T CTD Direct Evidence: marker/mechanism DNA:snp:cds:p.R620W (rs2476601) (human) DNA:missense mutation:cds:p.A629T (rat)
CTD OMIM
PMID:21190368 PMID:30224649 , PMID:15004560 , PMID:20176734 , PMID:25505293 , PMID:25513733 , PMID:21873553
RGD:6484524 , RGD:11533996 , RGD:9835029 , RGD:11532754 , RGD:6484692
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO IDA
RGD
PMID:19741189 , PMID:7568143
RGD:2313289 , RGD:729710
NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
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Ptprn2
protein tyrosine phosphatase, receptor type N2
ISO ISS
OMIM:222100
MouseDO
PMID:12419281 , PMID:18193190
RGD:2311684 , RGD:2311682
NCBI chr 6:144,384,773...145,133,042
Ensembl chr 6:144,384,773...145,133,042
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Ran
RAN, member RAS oncogene family
ISO
human gene in a mouse model
RGD
PMID:22114719
RGD:9835390
NCBI chr12:31,319,556...31,324,105
Ensembl chr12:31,320,624...31,323,810
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Reg1a
regenerating family member 1 alpha
ISO
human protein in a mouse model
RGD
PMID:9564847
RGD:9850125
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
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Retn
resistin
ISO
protein:decreased expression:serum
RGD
PMID:15523596
RGD:7207163
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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RT1-Ba
RT1 class II, locus Ba
onset susceptibility
ISO
DNA:polymorphisms: :multiple CTD Direct Evidence: marker/mechanism DNA:polymorphism (human)
CTD
PMID:26168013 , PMID:12021143 , PMID:16731854 , PMID:18769865 , PMID:17728790
RGD:2301817 , RGD:2301812 , RGD:2301811 , RGD:5147626
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
susceptibility onset
ISO
DNA:polymorphisms, haplotypes:cds:multiple (human) CTD Direct Evidence: marker/mechanism associated with Sclerosing Lymphocytic Lobulitis DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)
OMIM CTD
PMID:26168013 , PMID:20858521 , PMID:28247576 , PMID:10562813 , PMID:17728790 , PMID:20510319
RGD:5147569 , RGD:14865008 , RGD:11041764 , RGD:5147626 , RGD:5147575
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Da
RT1 class II, locus Da
ISO
RGD
PMID:11812739
RGD:5490164
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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RT1-Db1
RT1 class II, locus Db1
susceptibility onset
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple (human) DNA:polymorphisms (human)
CTD
PMID:26168013 , PMID:12270547 , PMID:20510319 , PMID:20858521
RGD:2314698 , RGD:5147575 , RGD:5147569
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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RT1-Ha
RT1 class II, locus Ha
ISO
RGD
PMID:7576003
RGD:6480651
NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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Sele
selectin E
ISO
protein:increased expression:serum
RGD
PMID:18791689
RGD:2313595
NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
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Sell
selectin L
ISS
OMIM:222100
MouseDO
NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
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Senp1
SUMO specific peptidase 1
ISS
OMIM:222100
MouseDO
NCBI chr 7:139,626,444...139,684,587
Ensembl chr 7:139,630,515...139,675,245 Ensembl chr 7:139,630,515...139,675,245
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Serpina7
serpin family A member 7
ISO
protein:decreased expression:serum
RGD
PMID:1867879
RGD:2312330
NCBI chr X:110,226,565...110,232,202
Ensembl chr X:110,226,572...110,232,179
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Serpinf1
serpin family F member 1
ISO
protein:increased expression:serum
RGD
PMID:17971181
RGD:2312345
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30224649
NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:SNP:intron:rs3731865 (human) DNA:polymorphism: :274C>T (human) DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321 , PMID:21524304 , PMID:19768110 , PMID:16550170 , PMID:15877293
RGD:5684926 , RGD:5684932 , RGD:5684950 , RGD:5684955
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Slc18a2
solute carrier family 18 member A2
IDA ISO
protein:decreased expression:pancreas (human)
RGD
PMID:16710474 , PMID:19223416
RGD:2317333 , RGD:5131199
NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
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Slc29a3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19336477 PMID:20140240
NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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Sod1
superoxide dismutase 1
ISO
DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human)
RGD
PMID:18423055
RGD:2312364
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
ISO
DNA:polymorphism: :p.A16V (human)
RGD
PMID:18423055
RGD:2312364
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:18682608
RGD:2308812
NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25038750
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Stat4
signal transducer and activator of transcription 4
ISS
OMIM:222100
MouseDO
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
DNA:insertion:intron (human) DNA:polymorphisms (human) DNA:mutation:promoter (mouse)
RGD
PMID:9458110 , PMID:9129974 , PMID:9300732
RGD:2312369 , RGD:2312371 , RGD:2312370
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:1300236 , PMID:17192492
RGD:2312373 , RGD:2312368
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587 Ensembl chr20:3,995,544...4,009,587
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Tbp
TATA box binding protein
susceptibility no_association
ISO
DNA:repeat:cds:g.172(CAG/CAA)38 (human)
RGD
PMID:15381080 , PMID:15850778
RGD:5684348 , RGD:5684349
NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
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Tf
transferrin
ISO
RGD
PMID:22861364
RGD:7244379
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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Tgfb1
transforming growth factor, beta 1
ISO
protein:increased expression:urine
RGD
PMID:18979373
RGD:2306737
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Thbd
thrombomodulin
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:11738074
RGD:2312458
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:serum
RGD
PMID:17020653
RGD:2312468
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:serum
RGD
PMID:17020653
RGD:2312468
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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Tlr2
toll-like receptor 2
no_association
ISO
DNA:SNP: :1350T>C (human) protein:increased expression:monocyte DNA:SNP: :rs3804100 (human)
RGD
PMID:17130564 , PMID:17707128 , PMID:18029454 , PMID:19148143 , PMID:15699513
RGD:2312687 , RGD:2312684 , RGD:2312683 , RGD:2312679 , RGD:2312686
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr3
toll-like receptor 3
ISO
DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human)
RGD
PMID:16029432
RGD:5129476
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:monocyte
RGD
PMID:18029454 , PMID:16728431
RGD:2312683 , RGD:2312492
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:23640034 , PMID:19120272
RGD:2313253
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tnfsf10
TNF superfamily member 10
ISO
RGD
PMID:12882912 , PMID:18057577
RGD:2312743 , RGD:2312740
NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
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Tnfsf4
TNF superfamily member 4
ISS
OMIM:222100
MouseDO
NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
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Tyk2
tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Virus-induced diabetes CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:26288847 PMID:30224649
NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
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Ucp3
uncoupling protein 3
ISO
RGD
PMID:18678617
RGD:2313502
NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
IEP
mRNA, protein:increased expression:liver
RGD
PMID:9841869
RGD:1600450
NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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Vav1
vav guanine nucleotide exchange factor 1
IEP
mRNA, protein:increased expression:thymus
RGD
PMID:10433093
RGD:2306005
NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
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Vcam1
vascular cell adhesion molecule 1
ISO
associated with Kidney Failure, Chronic;protein:increased expression:artery:
RGD
PMID:22210567
RGD:7241034
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:20309012
RGD:5685388
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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Vwf
von Willebrand factor
IEP
RGD
PMID:10729383
RGD:13673887
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Wfs1
wolframin ER transmembrane glycoprotein
no_association
ISO
DNA:missense mutation: :p.R456H (human) DNA:mutations:exons, 5' utr, 3' utr:multiple
RGD
PMID:15056606 , PMID:10679252 , PMID:15008830
RGD:8694393 , RGD:8694402 , RGD:8694396
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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Xylt1
xylosyltransferase 1
ISO
DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human)
RGD
PMID:16759312
RGD:2313136
NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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Yy1
YY1 transcription factor
treatment
IAGP IEP
DNA:SNPs:intron
RGD
PMID:15234341 , PMID:15619288
RGD:9588271 , RGD:9588274
NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
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Il2ra
interleukin 2 receptor subunit alpha
susceptibility
ISO
ClinVar Annotator: match by OMIM:601942 ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 10 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:17676041 PMID:25741868 PMID:28492532
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 12
OMIM ClinVar
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Igf2
insulin-like growth factor 2
ISS
OMIM:125852
MouseDO
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2
ClinVar
PMID:17855560 PMID:18192540 PMID:18414213
NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
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Ins2
insulin 2
ISO
ClinVar Annotator: match by OMIM:125852 DNA:missense mutation:cds:p.C96Y (mouse)
ClinVar OMIM
PMID:17855560 PMID:18192540 PMID:18414213 , PMID:17911348
RGD:14401710
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 20 ClinVar Annotator: match by OMIM:612520
OMIM ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10585442 PMID:10754480 PMID:11058894 PMID:11315851 PMID:11463573 PMID:11668618 PMID:12050210 PMID:12355088 PMID:12453976 PMID:12530534 PMID:12574234 PMID:12618559 PMID:12627330 PMID:15114102 PMID:15649945 PMID:15726414 PMID:15928245 PMID:16917892 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18414213 PMID:18672310 PMID:19150152 PMID:21051477 PMID:21224407 PMID:21395678 PMID:21628466 PMID:21648289 PMID:21683639 PMID:23348805 PMID:23551881 PMID:23607861 PMID:23610083 PMID:25174781 PMID:25741868 PMID:26431509 PMID:26467025 PMID:26479152 PMID:28012402 PMID:28492532 PMID:28862987 PMID:29207974 PMID:29417725 PMID:30293189 PMID:30814848
NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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Tagap
T-cell activation RhoGTPase activating protein
ISO
OMIM
NCBI chr 1:47,493,990...47,503,492
Ensembl chr 1:47,493,994...47,502,952
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Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 22
OMIM ClinVar
PMID:25741868
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Sumo4
small ubiquitin-like modifier 4
ISO
ClinVar Annotator: match by OMIM:600320
OMIM ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137
NCBI chr 5:14,983,382...14,984,134
Ensembl chr 5:14,983,371...14,984,364
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Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
ClinVar Annotator: match by null
ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137
NCBI chr 1:1,999,574...2,017,574
Ensembl chr 1:1,999,596...2,073,896
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Neurod1
neuronal differentiation 1
ISS
OMIM:600321
MouseDO
NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human) ClinVar Annotator: match by term: Wolcott-Rallison dysplasia ClinVar Annotator: match by OMIM:226980
ClinVar OMIM
PMID:7551159 PMID:10932183 PMID:12960215 PMID:16813601 PMID:25741868 PMID:26380986 PMID:28492532 , PMID:10932183
RGD:734923
NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.4216T>C (human)
RGD
PMID:9309689
RGD:5490247
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: DIDMOAD syndrome ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness ClinVar Annotator: match by term: Wolfram syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11317350 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:17492394 PMID:17517145 PMID:17568405 PMID:18414213 PMID:18544103 PMID:19344068 PMID:20028947 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23990876 PMID:24033266 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25388789 PMID:25497598 PMID:25741868 PMID:25842391 PMID:26435059 PMID:26467025 PMID:26969326 PMID:27185633 PMID:27395765 PMID:28432734 PMID:28492532 PMID:30014265 , PMID:9771706
RGD:1599813
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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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:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:16151413 PMID:16195229 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17603484 PMID:18040659 PMID:18414213 PMID:18544103 PMID:18806274 PMID:19042979 PMID:19877185 PMID:20028947 PMID:20160352 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21454619 PMID:21538838 PMID:21602428 PMID:22238590 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24227685 PMID:24424032 PMID:24890733 PMID:25133958 PMID:25211237 PMID:25388789 PMID:25497598 PMID:25741868 PMID:25842391 PMID:26025012 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26875006 PMID:26969326 PMID:27185633 PMID:27395765 PMID:27434582 PMID:28432734 PMID:28468959 PMID:28492532 PMID:29529044
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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Cisd2
CDGSH iron sulfur domain 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :109G>C (p.E37Q) (human) ClinVar Annotator: match by OMIM:604928
OMIM ClinVar CTD
PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:29237418 , PMID:17846994 , PMID:19451219
RGD:10045603 , RGD:10045601
NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
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Slc9b1
solute carrier family 9 member B1
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:10739754 PMID:17846994 PMID:25056293
NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
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