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)
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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:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614 More...
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Car2
carbonic anhydrase 2
ISO
RGD
PMID:15831920
RGD:408425973
NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818
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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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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Aire
autoimmune regulator
susceptibility
ISO IMP
Polyendocrinopathies, Autoimmune CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16982213 PMID:9921903 PMID:29959280
RGD:1599008 , RGD:38599145
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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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-DQA1*0401 (human) DNA:polymorphisms:cds:HLA-DQA1*0301 (human)
RGD
PMID:16254435 PMID:12734793
RGD:5147646 , RGD:5147800
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Aire
autoimmune regulator
ISO ISS
ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 OMIM:240300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1836330 PMID:2943776 PMID:6031738 PMID:9398839 PMID:9398840 PMID:9536098 PMID:9717837 PMID:9837820 PMID:9856486 PMID:9888391 PMID:9921903 PMID:10084559 PMID:10634424 PMID:10677297 PMID:10720083 PMID:10946904 PMID:11207636 PMID:11275943 PMID:11298085 PMID:11343230 PMID:11524731 PMID:11524733 PMID:11600535 PMID:11836330 PMID:12050215 PMID:12173302 PMID:12471056 PMID:12503856 PMID:12542742 PMID:12625412 PMID:12843157 PMID:14557425 PMID:14582926 PMID:14974083 PMID:15511668 PMID:15712268 PMID:15811934 PMID:16114041 PMID:16166780 PMID:16199547 PMID:16313305 PMID:16684821 PMID:16704638 PMID:16774540 PMID:16784312 PMID:16792967 PMID:16965330 PMID:17101293 PMID:17118990 PMID:17189144 PMID:17220063 PMID:17289071 PMID:17539912 PMID:17547716 PMID:17576681 PMID:17675238 PMID:17997173 PMID:18200029 PMID:18248641 PMID:18264745 PMID:18274776 PMID:18292755 PMID:18320920 PMID:18399903 PMID:18414213 PMID:18414681 PMID:18426830 PMID:18616706 PMID:18682433 PMID:18708298 PMID:18713028 PMID:18728167 PMID:18840680 PMID:19037923 PMID:19209622 PMID:19246027 PMID:19265170 PMID:19322061 PMID:19446523 PMID:19758376 PMID:19807739 PMID:19863576 PMID:20140861 PMID:20185822 PMID:20407228 PMID:20453472 PMID:20718774 PMID:21070315 PMID:21295522 PMID:21505073 PMID:21508664 PMID:21574164 PMID:21724609 PMID:21865375 PMID:21932610 PMID:22024611 PMID:22104652 PMID:22162465 PMID:23000069 PMID:23074189 PMID:23133448 PMID:23320549 PMID:23342054 PMID:23620608 PMID:23643663 PMID:24014553 PMID:24158785 PMID:24703644 PMID:24948345 PMID:25064028 PMID:25068407 PMID:25361846 PMID:25367057 PMID:25402387 PMID:25707324 PMID:25741868 PMID:26084028 PMID:26114819 PMID:26141571 PMID:26467025 PMID:26650942 PMID:26915675 PMID:27048654 PMID:27105486 PMID:27219120 PMID:27253668 PMID:27266815 PMID:27504588 PMID:27588307 PMID:27646917 PMID:27884173 PMID:28323927 PMID:28446514 PMID:28472507 PMID:28492532 PMID:28567288 PMID:28911151 PMID:28919897 PMID:29069385 PMID:29129473 PMID:29335648 PMID:29437776 PMID:29666621 PMID:30003128 PMID:30287219 PMID:30290665 PMID:30697212 PMID:30863741 PMID:31420020 PMID:31433868 PMID:31526676 PMID:31588815 PMID:31589614 PMID:31874111 PMID:32343891 PMID:32358377 PMID:32373116 PMID:32441320 PMID:32531373 PMID:32557834 PMID:32627016 PMID:32767280 PMID:32888943 PMID:33225392 PMID:33247909 PMID:33352647 PMID:33359892 PMID:33434148 PMID:33468135 PMID:33530632 PMID:33574239 PMID:33599910 PMID:33864888 PMID:34008892 PMID:34217342 PMID:34401309 PMID:34426522 PMID:34477806 PMID:34573280 PMID:34758253 PMID:34846681 PMID:34917035 PMID:34938581 PMID:34991662 PMID:35058929 PMID:35482138 PMID:35521792 PMID:35753512 PMID:36191466 PMID:36732629 More...
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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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 chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:10914676 PMID:18546332 PMID:22924696 PMID:23910690 PMID:28492532 PMID:28941186 PMID:30470980 PMID:35140711 PMID:36606663 More...
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dnmt3l
DNA methyltransferase 3 like
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
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Gh1
growth hormone 1
ISO
RGD
PMID:22506635
RGD:10401267
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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Ghrh
growth hormone releasing hormone
ISO
RGD
PMID:22506635
RGD:10401267
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
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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 chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
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Itgb2
integrin subunit beta 2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Krtap10-1
keratin associated protein 10-1
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,880,573...10,881,445 Ensembl chr20:10,880,573...10,881,445
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Krtap10-10
keratin associated protein 10-10
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,854,951...10,864,402
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Krtap10-2
keratin associated protein 10-2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,888,588...10,889,386
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Krtap10-8
keratin associated protein 10-8
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844
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Krtap10-9
keratin associated protein 10-9
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526 Ensembl chr20:10,939,609...10,940,526
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Krtap12-1
keratin associated protein 12-1
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,917,340...10,917,949
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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 chr20:10,904,422...10,904,751
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Krtap12-4
keratin associated protein 12-4
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,910,350...10,910,682
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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 chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
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Pfkl
phosphofructokinase, liver type
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
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Pttg1ip
PTTG1 interacting protein
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
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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 chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877 Ensembl chr20:11,007,148...11,020,877
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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 chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
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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 chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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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 chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
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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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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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 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
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Cd4
Cd4 molecule
treatment
ISO
RGD
PMID:1680568
RGD:10058966
NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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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 thyroiditis DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar RGD
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614 PMID:16352685 PMID:14986169 PMID:9398726 More...
RGD:2302003 , RGD:7421515 , RGD:1300386
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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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 chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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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:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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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 chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Ifng
interferon gamma
IEP
mRNA:increased expression:thyroid:
RGD
PMID:10560963
RGD:10755769
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
ISO
protein:increased expression:thyroid gland
RGD
PMID:17046971
RGD:4841878
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il4
interleukin 4
IMP
RGD
PMID:9892610
RGD:8142396
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Lrp2
LDL receptor related protein 2
ISO
RGD
PMID:10404822
RGD:1641847
NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708
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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 1:228,016,439...228,024,736
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Psmb9
proteasome 20S subunit beta 9
ISO
DNA:missense mutation: cds: Arg60His
RGD
PMID:12189117
RGD:6483439
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
RGD
PMID:22374238
RGD:6484667
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Da
RT1 class II, locus Da
ISO
RGD
PMID:12126634
RGD:5147805
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Sla
src-like adaptor
ISO
ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 | ClinVar Annotator: match by term: TG-Related Disorders
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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Tg
thyroglobulin
susceptibility
ISO
ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 | ClinVar Annotator: match by term: TG-Related Disorders CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype:exon:multiple
OMIM ClinVar CTD RGD
PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10403171 PMID:10404833 PMID:11484898 PMID:12915634 PMID:14657345 PMID:14764776 PMID:15579800 PMID:15769978 PMID:16187918 PMID:16199547 PMID:16477365 PMID:16720658 PMID:17244789 PMID:19339519 PMID:19438905 PMID:19837936 PMID:20089614 PMID:20410234 PMID:21128992 PMID:21372558 PMID:21757724 PMID:22784463 PMID:23035660 PMID:23164529 PMID:23457313 PMID:23535966 PMID:23933148 PMID:24033266 PMID:25741868 PMID:26777470 PMID:27305979 PMID:28444304 PMID:28492532 PMID:28620499 PMID:28942902 PMID:29275168 PMID:29385629 PMID:29590070 PMID:29720101 PMID:30022773 PMID:30240412 PMID:30350900 PMID:31287502 PMID:31867598 PMID:32428920 PMID:33692749 PMID:34248839 PMID:34484748 PMID:34780050 PMID:36012511 PMID:36913313 PMID:21683551 PMID:14657345 More...
RGD:5147557 , RGD:8548629
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tlr3
toll-like receptor 3
ISO
protein:increased expression:thyroid gland (human)
RGD
PMID:15661832
RGD:5128798
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tnf
tumor necrosis factor
ISO
RGD
PMID:17046971
RGD:4841878
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952073
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Zfat
zinc finger and AT hook domain containing
susceptibility
ISO
ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11440990 PMID:15294872 PMID:25741868 PMID:28940097
NCBI chr 7:99,886,954...100,054,288
Ensembl chr 7:99,886,954...100,054,274
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Cdk13
cyclin-dependent kinase 13
ISO
ClinVar Annotator: match by term: Wolfram-like disorder
ClinVar
PMID:25741868 PMID:28492532 PMID:33879837
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3126496 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33098801 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34837038 PMID:34997062 PMID:35206658 PMID:35469785 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37337769 PMID:37508961 PMID:37510321 More...
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602
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Car1
carbonic anhydrase 1
ISO
RGD
PMID:26034078
RGD:408425976
NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
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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 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:18284633
RGD:8549459
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Icam1
intercellular adhesion molecule 1
ISO
DNA:polymorphism: :c.1405A>G (human)
RGD
PMID:14557478
RGD:8158124
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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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 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il18
interleukin 18
treatment
ISO
RGD
PMID:12689659
RGD:8655878
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
RGD
PMID:2786308
RGD:8662939
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Kif1a
kinesin family member 1A
ISO
RGD
PMID:26451909
RGD:12911230
NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:14588098
RGD:8552818
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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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 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tshr
thyroid stimulating hormone receptor
severity
ISO
DNA:SNP:intron:rs179247 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31705858 PMID:22673349 PMID:20237164
RGD:8548662 , RGD:8548673
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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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 chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human)
RGD
PMID:17143563
RGD:8548467
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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B3gnt2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr14:101,009,682...101,034,507
Ensembl chr14:96,806,664...96,835,273
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Btnl2
butyrophilin-like 2
onset
ISO
DNA:SNP: :rs17577980(human)
RGD
PMID:24684463
RGD:9685042
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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C4a
complement C4A
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
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C4b
complement C4B
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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Cat
catalase
treatment
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:12919155
RGD:9068908
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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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 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:8875745
RGD:8547747
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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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 RGD
PMID:19731979 PMID:21841780 PMID:23104008 PMID:9861324 PMID:10404810 PMID:20352109 PMID:14986169 PMID:15785242 PMID:12780750 PMID:10369864 PMID:9672157 More...
RGD:2302000 , RGD:11352245 , RGD:7421517 , RGD:7421515 , RGD:7421507 , RGD:7421505 , RGD:1300388 , RGD:2302001
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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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 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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Dnmt1
DNA methyltransferase 1
treatment
ISO
DNA:polymorphism: :32204 G>A(human)
RGD
PMID:23039890
RGD:9588624
NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659
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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 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:thyroid gland, thyrocyte (human)
RGD
PMID:11422195
RGD:8662820
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fkbp1b
FKBP prolyl isomerase 1B
ISO
RGD
PMID:15497458
RGD:1580387
NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653
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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 RGD
PMID:12050214 PMID:16868893 PMID:12050214
RGD:5509883 , RGD:5509886
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:17980001
RGD:8547807
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17535987
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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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 RGD
PMID:33132244 PMID:9848715 PMID:15544617 PMID:16970687 PMID:15068623 PMID:2125901 More...
RGD:8142372 , RGD:8157604 , RGD:8157599 , RGD:8142393 , RGD:8142373
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression:thyroid gland:
RGD
PMID:9857239
RGD:8548837
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
ISO
protein: increased expression: blood: T cells and B cells
RGD
PMID:18832736
RGD:5686433
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
susceptibility
ISO
DNA:snp:intron:IVS1+18G>A (rs3819025) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:33132244 PMID:22816799
RGD:9068423
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
DNA:SNP:promoter:-511C>T (human)
RGD
PMID:16025481 PMID:2674184
RGD:7401177 , RGD:7401207
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
RGD
PMID:2279527
RGD:8662947
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
disease_progression
ISO
DNA:polymorphism:promoter:-572C>G(human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD RGD
PMID:16372246 PMID:21235536 PMID:12818091
RGD:7829719 , RGD:7829750
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
disease_progression
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16372246 PMID:12818091
RGD:7829750
NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:23109646
RGD:8693341
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Lta
lymphotoxin alpha
no_association
ISO
DNA:polymorphism
RGD
PMID:1346144 PMID:7928443
RGD:8548778 , RGD:8548790
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T(human)
RGD
PMID:20941748
RGD:7387246
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Ogg1
8-oxoguanine DNA glycosylase
ISO
DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human)
RGD
PMID:21465496
RGD:8657376
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pdcd1
programmed cell death 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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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 RGD
PMID:21190368 PMID:15504986 PMID:17608818 PMID:18687223
RGD:6484538 , RGD:7829763 , RGD:7829738
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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Rnaset2
ribonuclease T2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21841780
NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms::HLA-DQA1*0501;
RGD
PMID:8706297
RGD:8547558
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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
NCBI chr20:3,314,491...3,322,815
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
G
Serpine1
serpin family E member 1
treatment
ISO
protein:increased expression:tears (human)
RGD
PMID:11980614 PMID:22385289
RGD:8547709 , RGD:8547756
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16195404
RGD:7207875
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Stat6
signal transducer and activator of transcription 6
ISO
RGD
PMID:15117875
RGD:7244137
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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 RGD
PMID:33132244 PMID:14636875 PMID:95586 PMID:17550957 PMID:22662162 PMID:18656705 More...
RGD:8548606 , RGD:8548645 , RGD:8548644 , RGD:8548643 , RGD:8548630
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Tp53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.p.R72P(human)
RGD
PMID:17980001
RGD:8547807
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Tpo
thyroid peroxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
G
Tshb
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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 RGD
PMID:1955520 PMID:21841780 PMID:21642385 PMID:9528975 PMID:21155717 PMID:24518168 PMID:7828357 PMID:11887032 PMID:23538203 PMID:19244275 PMID:21124799 More...
RGD:8548654 , RGD:8548669 , RGD:8548665 , RGD:8548664 , RGD:8548663 , RGD:8548661 , RGD:8548657 , RGD:8548656 , RGD:8548655
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 More...
RGD:1331525 , RGD:8158053 , RGD:8158053 , RGD:8157632 , RGD:8157628 , RGD:8157628 , RGD:8157624
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Vegfa
vascular endothelial growth factor A
ISO
DNA:SNPs: :-2578A>C,-460T>C,405G>C(human)
RGD
PMID:22771446
RGD:7483621
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
G
Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNP: :rs3733197(human)
RGD
PMID:24127308
RGD:9684981
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
G
C1s
complement C1s
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11390518
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
G
Cat
catalase
ISO
protein:increased activity:plasma:
RGD
PMID:20204550
RGD:9068926
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
G
Cd40
CD40 molecule
ISO
protein:increased expression:serum
RGD
PMID:17558708
RGD:8547767
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:17558708
RGD:8547767
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP:cds:+49A/G (rs231775)(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hashimoto Disease
OMIM CTD ClinVar RGD
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614 PMID:18752454 More...
RGD:7421513
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Esr2
estrogen receptor 2
no_association
ISO
DNA:repeat
RGD
PMID:11180758
RGD:10045850
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:throcyte:
RGD
PMID:9161695
RGD:12910543
NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:7626551
RGD:8547592
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
severity
ISO
DNA:polymorphism:cds:+874A>T(human)
RGD
PMID:16820703
RGD:8142375
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Il6
interleukin 6
ISO
DNA:polymorphism:promoter:-572C>G(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16372246 PMID:21235536
RGD:7829719
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:22360648
RGD:8693703
NCBI chr 1:228,016,439...228,024,736
G
Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:19924240
RGD:6483332
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp: cds: rs2476601
RGD
PMID:15719322
RGD:6484548
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:19254248
RGD:5147613
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:19254248
RGD:5147613
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
G
Tg
thyroglobulin
no_association
ISO IDA
CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:multiple
CTD RGD
PMID:30373627 PMID:14636875 PMID:3052944 PMID:18656705 PMID:21559421
RGD:8548606 , RGD:8548647 , RGD:8548630 , RGD:8548607
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Tshr
thyroid stimulating hormone receptor
ISO
DNA:SNP:intron:rs3783938 (human)
RGD
PMID:22673349
RGD:8548662
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
G
Akap4
A-kinase anchoring protein 4
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:18,107,256...18,117,549
Ensembl chr X:15,435,410...15,445,684
G
Araf
A-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
G
Bmp15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
G
Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
G
Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
G
Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
G
Ccnb3
cyclin B3
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
G
Cdk16
cyclin-dependent kinase 16
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
G
Cfp
complement factor properdin
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:3,715,551...3,721,113
Ensembl chr X:1,161,979...1,167,573
G
Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
G
Dgkk
diacylglycerol kinase kappa
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
G
Dock8
dedicator of cytokinesis 8
ISO
DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human)
RGD
PMID:29058101
RGD:40886273
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
G
Ebp
EBP, cholestenol delta-isomerase
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
G
Elk1
ETS transcription factor ELK1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
G
Eras
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
G
Foxp3
forkhead box P3
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome OMIM:304790 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 PMID:11295725 PMID:11768393 PMID:12161590 PMID:14671208 PMID:15096376 PMID:16199547 PMID:16630773 PMID:16741580 PMID:16920951 PMID:17576681 PMID:17586580 PMID:17635943 PMID:18414213 PMID:18795917 PMID:18820676 PMID:18931102 PMID:18951619 PMID:19189134 PMID:19471859 PMID:19633572 PMID:20537998 PMID:20650610 PMID:21036387 PMID:22000569 PMID:22581967 PMID:22590469 PMID:23313429 PMID:23534934 PMID:24033266 PMID:24250806 PMID:24258212 PMID:24792626 PMID:24916357 PMID:24982679 PMID:25326164 PMID:25363768 PMID:25546394 PMID:25741868 PMID:25911531 PMID:26467025 PMID:26661331 PMID:26748374 PMID:26748735 PMID:27167055 PMID:27484032 PMID:27783946 PMID:28289675 PMID:28492532 PMID:28778586 PMID:28783662 PMID:28993341 PMID:29193502 PMID:29241729 PMID:29312905 PMID:29896738 PMID:29907148 PMID:30191644 PMID:30293990 PMID:30385752 PMID:30443250 PMID:30510991 PMID:30755392 PMID:30805323 PMID:30894704 PMID:31027649 PMID:31130284 PMID:31990476 PMID:32279225 PMID:32531870 PMID:32963853 PMID:33046911 PMID:33194927 PMID:33523441 PMID:33637067 PMID:33751536 PMID:33833438 PMID:34216291 PMID:36152823 PMID:37485029 PMID:11137992 More...
RGD:1598959
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Ftsj1
FtsJ RNA 2'-O-methyltransferase 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
G
Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Glod5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
G
Gpkow
G patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
G
Gripap1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
G
Hdac6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:17,222,538...17,244,373
Ensembl chr X:14,551,044...14,572,441
G
Jade3
jade family PHD finger 3
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,668,873...1,848,781
Ensembl chr X:1,669,930...1,845,138
G
Kcnd1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
G
Magix
MAGI family member, X-linked
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
G
Mir500
microRNA 500
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
G
Mir532
microRNA 532
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
G
Ndufb11
NADH:ubiquinone oxidoreductase subunit B11
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
G
Otud5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
G
Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
G
Pim2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
G
Plp2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
G
Porcn
porcupine O-acyltransferase
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
G
Ppp1r3f
protein phosphatase 1, regulatory subunit 3F
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
G
Pqbp1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Praf2
PRA1 domain family, member 2
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
G
Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
G
Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
G
Rbm3
RNA binding motif protein 3
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
G
Rgn
regucalcin
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:4,172,537...4,190,112
Ensembl chr X:1,619,032...1,634,450
G
Rp2
RP2 activator of ARL3 GTPase
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688
G
Shroom4
shroom family member 4
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
G
Slc35a2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
G
Slc38a5
solute carrier family 38, member 5
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
G
Slc9a7
solute carrier family 9 member A7
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
G
Spaca5
sperm acrosome associated 5
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
G
Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
G
Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
G
Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:141,792,589...141,795,257
G
Syn1
synapsin I
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:3,725,745...3,780,940
Ensembl chr X:1,172,208...1,227,396
G
Syp
synaptophysin
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
G
Tfe3
transcription factor binding to IGHM enhancer 3
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
G
Timm17b
translocase of inner mitochondrial membrane 17b
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
G
Usp11
ubiquitin specific peptidase 11
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
G
Usp27x
ubiquitin specific peptidase 27, X-linked
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
G
Uxt
ubiquitously-expressed, prefoldin-like chaperone
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
G
Was
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
G
Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
G
Zfp157
zinc finger protein 157
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
G
Zfp182
zinc finger protein 182
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
G
Znf81
zinc finger protein 81
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNP: :49A>G (human)
RGD
PMID:12021137
RGD:2301997
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
LOC120095693
small ubiquitin-related modifier 2-like
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137
NCBI chr11:79,163,457...79,164,088
Ensembl chr11:79,163,634...79,163,960
G
Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
G
Phkg2
phosphorylase kinase catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Mauriac syndrome
ClinVar
PMID:27207549 PMID:28492532
NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18025464
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Ace
angiotensin I converting enzyme
disease progression
ISO
protein:increased activity:serum (human) DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:1336356 PMID:9025006
RGD:7829770 , RGD:7829799
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Ache
acetylcholinesterase
ISO
RGD
PMID:2658981
RGD:2312438
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
G
Acp1
acid phosphatase 1
onset
ISO
RGD
PMID:15586390 PMID:11912546
RGD:2313182 , RGD:2313186
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19640330
RGD:2313235
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
G
Adrb1
adrenoceptor beta 1
IEP
RGD
PMID:21491159
RGD:6893642
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
G
Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:renal cortex (mouse) protein:decreased expression:serum (human) DNA:SNP:promoter:-374T>A (human) DNA:SNP, haplotype: :557G>A (p.G82S) (human)
RGD
PMID:18420491 PMID:21738623 PMID:21870072 PMID:16969646 PMID:10553500
RGD:2325657 , RGD:7243937 , RGD:7244183 , RGD:8695958 , RGD:8695961
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
G
Aif1
allograft inflammatory factor 1
onset
IDA ISO
DNA:polymorphism:intron:rs2259571 (human)
RGD
PMID:9391121 PMID:18987644
RGD:2313043 , RGD:2313199
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23499715
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
G
Aldh2
aldehyde dehydrogenase 2 family member
ISO
RGD
PMID:12706323
RGD:2311151
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
G
Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:17940120
RGD:5509611
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
G
Aoc3
amine oxidase, copper containing 3
ISO
protein:increased expression:serum
RGD
PMID:12466139
RGD:2313825
NCBI chr10:86,272,757...86,280,702
G
Apoa1
apolipoprotein A1
ISO
protein:increased expression:plasma
RGD
PMID:9578960
RGD:2313962
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoa2
apolipoprotein A2
ISO
protein:decreased expression:plasma
RGD
PMID:9578960
RGD:2313962
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
G
Apob
apolipoprotein B
ISO
RGD
PMID:19171731 PMID:1579407
RGD:2313980 , RGD:2313972
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
G
Apoc3
apolipoprotein C3
susceptibility
ISO IMP
DNA:polymorphisms: :multiple
RGD
PMID:1579407 PMID:16505251 PMID:21670290
RGD:2313972 , RGD:2306765 , RGD:7207205
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Apoe
apolipoprotein E
ISO
protein:decreased expression:urine (human)
GAD RGD
PMID:15118671 PMID:22678621
RGD:1331525 , RGD:6903197
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
G
Apoh
apolipoprotein H
ISO
RGD
PMID:9472678
RGD:2313990
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
G
Apom
apolipoprotein M
susceptibility
ISO
DNA:SNP:promoter:g.-778T>C(rs805296)(human)
RGD
PMID:19007767
RGD:2314238
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
G
Avp
arginine vasopressin
IAGP
RGD
PMID:13995944 PMID:5692127
RGD:2314661 , RGD:632128
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
G
Avpdi
arginine vasopressin; diabetes insipidus mutant
IAGP
RGD
PMID:13995944 PMID:5692127
RGD:2314661 , RGD:632128
G
B2m
beta-2 microglobulin
ISO
RGD
PMID:11572996 PMID:15446308
RGD:2311238 , RGD:2311235
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
G
Bach2
BTB domain and CNC homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
G
Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNP: :rs3733197(human)
RGD
PMID:24342660
RGD:9684973
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
G
Bche
butyrylcholinesterase
onset
ISO
DNA:polymorphism: :p.A539T (human)
RGD
PMID:17026497
RGD:2306779
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
G
Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:plasma protein:increased expression:serum:
RGD
PMID:21041817 PMID:9850345
RGD:7207232 , RGD:7207419
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Bmal2
basic helix-loop-helix ARNT like 2
ISO
DNA:SNPs:exon:multiple
RGD
PMID:16893914
RGD:2314359
NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
G
Btc
betacellulin
susceptibility
ISO
DNA:polymorphism:intron:IVS4-4C>T (human)
RGD
PMID:16683131
RGD:2306966
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
G
C12h12orf43
similar to human chromosome 12 open reading frame 43
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar
PMID:25741868
NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
G
C1qtnf6
C1q and TNF related 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412
G
C3
complement C3
ISO
RGD
PMID:3253105
RGD:2314031
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
G
Casp12
caspase 12
IEP ISO
protein:increased expression:hippocampus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23499715 PMID:15855338
RGD:2311451
NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
G
Casp3
caspase 3
IEP
protein:increased activity:hippocampus
RGD
PMID:15855338
RGD:2311451
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
G
Casp8
caspase 8
ISO
RGD
PMID:12753807
RGD:2311431
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
G
Casp9
caspase 9
ISO
RGD
PMID:17880769 PMID:14617576
RGD:2311245 , RGD:2311322
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
G
Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15111504
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
G
Cbl
Cbl proto-oncogene
IEP
mRNA:decreased expression:pancreatic lymph node, mast cell (rat)
RGD
PMID:17082646
RGD:1598972
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
G
Cblb
Cbl proto-oncogene B
no_association susceptibility
ISO IAGP IDA
DNA:SNP:exon:rs3772534 (human) DNA:SNPs: :multiple (human) DNA:missense mutations: :multiple (human) DNA:nonsense mutation (rat)
RGD
PMID:17209142 PMID:14961073 PMID:15629882 PMID:18201552 PMID:12118252 PMID:12118252 More...
RGD:2314039 , RGD:2314041 , RGD:2314040 , RGD:2314037 , RGD:625457 , RGD:625457
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
G
Ccl11
C-C motif chemokine ligand 11
IEP
protein:increased expression:serum
RGD
PMID:23049540
RGD:7248415
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Ccl2
C-C motif chemokine ligand 2
onset
ISO
protein:increased expression:serum mRNA:increased expression:pancreatic islet (mouse)
RGD
PMID:19092169 PMID:11317664
RGD:2306983 , RGD:8549575
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21340626
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
DNA:SNPs:rs4251719, rs2306630, rs2107538 (human)
RGD
PMID:16855620
RGD:2307102
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccr2
C-C motif chemokine receptor 2
no_association
ISO
DNA:polymorphism DNA:polymorphism: :p.V64I (human)
RGD
PMID:12770795 PMID:10400139
RGD:2313562 , RGD:2313564
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
no_association
ISO IEP
protein:decreased expression:blood, mononuclear cell mRNA:increased expression:splenocyte (rat) DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:12145160 PMID:15240727 PMID:23773920
RGD:2317571 , RGD:4890459 , RGD:8551818
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14
CD14 molecule
ISO
protein:increased expression:monocyte
RGD
PMID:14614560 PMID:10831941
RGD:2314173 , RGD:2314175
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd28
Cd28 molecule
onset
ISO
DNA:polymorphism:intron (human) protein:decreased expression:T cell
RGD
PMID:11685455 PMID:9410902 PMID:15504310
RGD:2307199 , RGD:2307201 , RGD:2307197
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd36
CD36 molecule
ISO
protein:increased expression:heart
RGD
PMID:7544802
RGD:2307219
NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903
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Cd38
CD38 molecule
disease_progression
ISO ISS
OMIM:222100
MouseDO RGD
PMID:16459468 PMID:16920929 PMID:12488956
RGD:2307230 , RGD:2307229 , RGD:2307231
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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Cd40
CD40 molecule
ISO
protein:increased expression:plasma
RGD
PMID:22505539
RGD:6893375
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO IMP
protein:increased expression:serum
RGD
PMID:16505242 PMID:15448088 PMID:16611325 PMID:12419284 PMID:26716812
RGD:2314212 , RGD:2314220 , RGD:5491182 , RGD:8547798 , RGD:11344963
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd69
Cd69 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542
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Cd80
Cd80 molecule
ISO
RGD
PMID:19658094
RGD:5132624
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cd86
CD86 molecule
onset
ISO
human gene in mouse model protein:decreased expression:dendritic cell protein:decreased expression:macrophage,dendritic cell,T cell protein:decreased expression:dendritic cells protein:increased expression:dendritic cell
RGD
PMID:17947667 PMID:16232222 PMID:15356107 PMID:10679081 PMID:18316361 PMID:12742378 More...
RGD:4892258 , RGD:2313911 , RGD:2313917 , RGD:2313927 , RGD:2313906 , RGD:2313920
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk4
cyclin-dependent kinase 4
ISO ISS
OMIM:222100
MouseDO RGD
PMID:10319860
RGD:2314613
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cel
carboxyl ester lipase
ISO
protein:increased activity:serum ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar RGD
PMID:18414213 PMID:25741868 PMID:10580419 PMID:9536927
RGD:2313967 , RGD:2313969
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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Cfb
complement factor B
ISO
protein:increased expression:serum DNA:polymorphism
RGD
PMID:3907907 PMID:19000152
RGD:2311338 , RGD:2311335
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:18957531
RGD:4892627
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Chrm2
cholinergic receptor, muscarinic 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18603373
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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Clec16a
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:rs725613 (human) DNA:polymorphism:intron:rs2903692A (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17632545 PMID:18946483 PMID:18946483 PMID:19221398
RGD:2313978 , RGD:5491176
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20012460 PMID:17603912
RGD:2314682
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crp
C-reactive protein
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20012460 PMID:22864910 PMID:20012460
RGD:6906966 , RGD:8547537
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNP:promoter:-1661A>G (human) DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human) DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)
RGD
PMID:16671945 PMID:8817351 PMID:18443194 PMID:9259273
RGD:2301995 , RGD:2301958 , RGD:2301974 , RGD:1300385
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctsb
cathepsin B
susceptibility
ISO
RGD
PMID:19664906
RGD:2315524
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsh
cathepsin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:90,608,941...90,627,824
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Ctsl
cathepsin L
susceptibility
ISO
RGD
PMID:19664906
RGD:2315524
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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Cxcl10
C-X-C motif chemokine ligand 10
ISO IMP
protein:increased expression:serum
RGD
PMID:16148094 PMID:16339582 PMID:19046227
RGD:2311363 , RGD:2311362 , RGD:2311358
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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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:18793419 PMID:12383202 PMID:14679085 PMID:14522095
RGD:2306563 , RGD:2301942 , RGD:2306562 , RGD:2306561 , RGD:2306560
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
susceptibility
ISO
DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human) DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
RGD
PMID:17223345 PMID:17606874
RGD:2307312 , RGD:2307311
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
mRNA:increased expression:leukocyte
RGD
PMID:12743671
RGD:2313684
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
susceptibility
ISO
DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)
RGD
PMID:17607662
RGD:2315692
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23499715
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201
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Ddx39b
DExD-box helicase 39B
ISO
RGD
PMID:11756005
RGD:13702905
NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996
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Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:increased expression:CD4+ T cell:
RGD
PMID:21864931
RGD:9589109
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Dock8
dedicator of cytokinesis 8
IAGP
RGD
PMID:26363782
RGD:11532657
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Dock8m1Ztm
dedicator of cytokinesis 8;mutant 1, Ztm
IAGP
RGD
PMID:26363782
RGD:11532657
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Dpp4
dipeptidylpeptidase 4
ISO
RGD
PMID:19073764
RGD:2313702
NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:46,962,243...47,043,901
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Dusp1
dual specificity phosphatase 1
IEP
RGD
PMID:7485483
RGD:2298693
NCBI chr10:17,184,853...17,187,646
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E2f1
E2F transcription factor 1
ISO ISS
E2f1/E2f2 double knockout OMIM:222100
MouseDO RGD
PMID:15146237
RGD:1300306
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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E2f2
E2F transcription factor 2
ISO
E2f1/E2f2 double knockout
RGD
PMID:15146237
RGD:1300306
NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217
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Edn1
endothelin 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:2198188
RGD:4144835
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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Egfr
epidermal growth factor receptor
IEP
protein:decreased phosphorylation:liver (rat)
RGD
PMID:2833110
RGD:5131531
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
DNA:polymorphism
RGD
PMID:15483661
RGD:1601017
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Ets1
ETS proto-oncogene 1, transcription factor
ISO
DNA:polymorphism (human)
RGD
PMID:1982251 PMID:1686010
RGD:2313850 , RGD:2313901
NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
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F7
coagulation factor VII
ISO
protein:increased activity, expression:plasma (human) DNA:polymorphism:cds:R353Q (human) associated with Kidney Failure; protein:increased expression:plasma (human)
RGD
PMID:11297753 PMID:11146704 PMID:9686915 PMID:15860378
RGD:2312384 , RGD:2312385 , RGD:2312389 , RGD:2312383
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fads2
fatty acid desaturase 2
treatment
IEP
associated with hypertension
RGD
PMID:15589689
RGD:401901188
NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:insulin-secreting cells
RGD
PMID:9254659 PMID:19120316
RGD:2315754 , RGD:2315742
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO IDA ISS
protein:increased expression:lymphocyte mRNA:decreased expression:lymphocyte OMIM:222100
MouseDO RGD
PMID:19120316 PMID:16180659 PMID:17324464
RGD:2315742 , RGD:2315751 , RGD:2315748
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:17617565
RGD:5508453
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgf21
fibroblast growth factor 21
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23499715
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Foxo1
forkhead box O1
ISO
protein:altered localization:nucleus,liver cell:
RGD
PMID:15546000
RGD:10045358
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Foxp3
forkhead box P3
susceptibility
ISO
associated with Autoimmune Diseases;DNA:mutations: :multiple (human) ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar RGD
PMID:25741868 PMID:11137992
RGD:1598959
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Fuca1
alpha-L-fucosidase 1
ISO
protein:decreased activity:plasma
RGD
PMID:7304074
RGD:2315949
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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G6pc2
glucose-6-phosphatase catalytic subunit 2
ISS
OMIM:222100
MouseDO
NCBI chr 3:53,999,821...54,005,539
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G6pd
glucose-6-phosphate dehydrogenase
ISO
protein:decreased expression:erythrocyte
RGD
PMID:15914531
RGD:2307348
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gad2
glutamate decarboxylase 2
onset susceptibility
ISO ISS
OMIM:222100
MouseDO RGD
PMID:19085183 PMID:18005036 PMID:19188044 PMID:19741189
RGD:2313294 , RGD:2313296 , RGD:2313292 , RGD:2313289
NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
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Gal
galanin and GMAP prepropeptide
IEP ISO
mRNA, protein:increased expression:celiac ganglion protein:increased expression:plasma
RGD
PMID:16487586 PMID:16060906
RGD:1624331 , RGD:2313736
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
ClinVar
PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 PMID:28492532 PMID:33865372 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
ClinVar
PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 PMID:31271559 More...
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Gc
GC, vitamin D binding protein
ISO
DNA:polymorphism:exon:p.D416E(human)
RGD
PMID:11239517
RGD:2315558
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gh1
growth hormone 1
ISO IDA
protein:increased expression:serum
RGD
PMID:3097114 PMID:2888037 PMID:7298798
RGD:2315684 , RGD:2315685 , RGD:2315674
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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Ghr
growth hormone receptor
ISO
mRNA, protein:decreased expression:kidney, liver
RGD
PMID:11469393 PMID:12054124
RGD:2307367 , RGD:2307366
NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735
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Gimap5
GTPase, IMAP family member 5
IAGP
DNA:frameshift deletion
RGD
PMID:12097339 PMID:12031988
RGD:619544 , RGD:633092
NCBI chr 4:77,693,417...77,701,025
Ensembl chr 4:77,687,564...77,703,086
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Glis3
GLIS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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Gpx3
glutathione peroxidase 3
ISO
protein:decreased activity:plasma (human)
RGD
PMID:16489975
RGD:2312634
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
onset
ISO
RGD
PMID:16390810
RGD:2306629
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
IEP
mRNA:decreased expression:islets of Langerhans (rat)
RGD
PMID:23111281
RGD:7794858
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2
histone deacetylase 2
ISO
protein:decreased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac3
histone deacetylase 3
ISO
protein:decreased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr18:30,021,847...30,041,061
Ensembl chr18:29,770,636...29,793,856
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Hnf1a
HNF1 homeobox A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Type I diabetes mellitus
OMIM CTD ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9075819 PMID:9112026 PMID:9166684 PMID:9313763 PMID:9313764 PMID:9392505 PMID:9439666 PMID:9604876 PMID:9727913 PMID:9754819 PMID:10078571 PMID:10333057 PMID:10447526 PMID:10585442 PMID:10588527 PMID:10690959 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11296231 PMID:11315828 PMID:11315851 PMID:11393552 PMID:11692182 PMID:11719843 PMID:11938027 PMID:11942313 PMID:12050210 PMID:12355088 PMID:12359128 PMID:12453420 PMID:12488961 PMID:12530534 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12832318 PMID:14598263 PMID:14747304 PMID:15387959 PMID:15649945 PMID:15657605 PMID:15883474 PMID:15928245 PMID:16274290 PMID:16562587 PMID:16602010 PMID:16917892 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:18838325 PMID:19169489 PMID:19754856 PMID:19929997 PMID:20393147 PMID:21051477 PMID:21168233 PMID:21170474 PMID:21224407 PMID:21628466 PMID:21696527 PMID:21761282 PMID:21823540 PMID:22348187 PMID:22432108 PMID:23139355 PMID:23274891 PMID:23348805 PMID:23517481 PMID:23551881 PMID:23607861 PMID:23771925 PMID:23869231 PMID:24033266 PMID:24097065 PMID:24728327 PMID:24915262 PMID:25174781 PMID:25411618 PMID:25414397 PMID:25483937 PMID:25555642 PMID:25741868 PMID:25887915 PMID:26059258 PMID:26431509 PMID:26467025 PMID:27083284 PMID:27148439 PMID:27271189 PMID:27899486 PMID:27913849 PMID:28012402 PMID:28395978 PMID:28410371 PMID:28492532 PMID:28701371 PMID:28862987 PMID:28938416 PMID:29207974 PMID:29334895 PMID:29417725 PMID:29439679 PMID:29666556 PMID:29758564 PMID:29927023 PMID:30004997 PMID:30155490 PMID:30191644 PMID:30202817 PMID:30293189 PMID:30455330 PMID:30814848 PMID:31264968 PMID:31363388 PMID:31365591 PMID:31419515 PMID:31447099 PMID:31485449 PMID:31517624 PMID:31576961 PMID:31638168 PMID:32041611 PMID:32238361 PMID:32395877 PMID:32418360 PMID:32741144 PMID:32910913 PMID:33046911 PMID:33477506 PMID:34108472 PMID:34161864 PMID:34373539 PMID:34496959 PMID:34741762 PMID:35328643 PMID:35673428 PMID:35846334 PMID:36208030 PMID:36257325 PMID:36407475 PMID:36613572 PMID:38093550 More...
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hp
haptoglobin
treatment
IEP IDA ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16506275 PMID:20975081 PMID:20853098
RGD:11041804 , RGD:11041868
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16616286 PMID:16616286 PMID:11916625
RGD:2308923 , RGD:2308924
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Iapp
islet amyloid polypeptide
ISO
protein:decreased expression:plasma
RGD
PMID:19033417 PMID:19190104
RGD:2313357 , RGD:2313356
NCBI chr 4:175,237,107...175,244,373
Ensembl chr 4:175,237,115...175,242,920
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Ica1
islet cell autoantigen 1
onset
ISO
mRNA, protein:decreased expression:thymus gland
RGD
PMID:11751995 PMID:14679103 PMID:8647206
RGD:2311487 , RGD:2311486 , RGD:2311488
NCBI chr 4:36,656,475...36,804,705
Ensembl chr 4:36,656,475...36,804,298
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Icam1
intercellular adhesion molecule 1
susceptibility
ISO
protein:increased expression:plasma
RGD
PMID:16978373 PMID:19373518
RGD:1625758 , RGD:2313468
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO IMP ISS
CTD Direct Evidence: marker/mechanism OMIM:222100
CTD MouseDO RGD
PMID:21340626 PMID:18644830 PMID:8977415
RGD:2311493 , RGD:10755748
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Ifngr2
interferon gamma receptor 2
ISS
OMIM:222100
MouseDO
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
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Igf1
insulin-like growth factor 1
severity
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:24632065 PMID:19156625 PMID:16887362 PMID:15356074
RGD:2306688 , RGD:2313765 , RGD:2313769
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Igf2
insulin-like growth factor 2
IEP
mRNA, protein:decreased expression:thymus
RGD
PMID:11307180
RGD:5510007
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Igf2r
insulin-like growth factor 2 receptor
ISO
DNA:SNP (human)
RGD
PMID:15531531
RGD:2311611
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Igfbp3
insulin-like growth factor binding protein 3
severity
ISO
RGD
PMID:16887362 PMID:15356074
RGD:2313765 , RGD:2313769
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19430480 PMID:17997340
RGD:2308949
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il15
interleukin 15
ISO
protein:increased expression:serum
RGD
PMID:16098919 PMID:17670937
RGD:2313577 , RGD:2313574
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:18359638
RGD:8655935
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1a
interleukin 1 alpha
ISO
mRNA:increased expression:pancreatic islet, leukocyte protein:increased expression:small intestine mucosa
RGD
PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531
RGD:2311075 , RGD:2311067 , RGD:2311065 , RGD:2311064
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
mRNA:increased expression:peripheral blood, leukocyte (human)
RGD
PMID:21848584 PMID:1797022
RGD:7175335 , RGD:7401233
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il1r1
interleukin 1 receptor type 1
ISO ISS
protein:decreased expression:pancreatic islet DNA:SNP (human) DNA:polymorphism OMIM:222100
MouseDO RGD
PMID:7835294 PMID:11197691 PMID:8911996
RGD:2311068 , RGD:2311106 , RGD:6892703
NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937
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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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
onset
ISO
RGD
PMID:17670937 PMID:3514237
RGD:2313574 , RGD:10047089
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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Il20
interleukin 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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Il21
interleukin 21
susceptibility treatment
ISO
associated with Arenaviridae infectious disease
RGD
PMID:27300756 PMID:28711285
RGD:127285370 , RGD:127285590
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:19208913
RGD:6892930
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il27
interleukin 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il2ra
interleukin 2 receptor subunit alpha
onset
ISO
DNA:SNPs CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17676041 PMID:19119414 PMID:19701192 PMID:30224649 PMID:19119414 PMID:19106270 More...
RGD:2311527 , RGD:2311528
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Il2rb
interleukin 2 receptor subunit beta
ameliorates
ISO
RGD
PMID:29367461
RGD:42733039
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Il4
interleukin 4
ISS
OMIM:222100
MouseDO
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
DNA:polymorphism:promoter:-174G>C (human) protein:increased expression:extracellular space (human) protein:increased expression:extracellular space (mouse) protein:increased expression:serum: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to
CTD ClinVar OMIM RGD
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 PMID:19127455 PMID:19382103 PMID:16960101 PMID:17725274 More...
RGD:2307275 , RGD:2307193 , RGD:2307279 , RGD:7829749
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus
ClinVar
PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20133622 PMID:20226046 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22235272 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:26101329 PMID:26467025 PMID:26641800 PMID:28492532 PMID:30414308 PMID:33953728 PMID:34789499 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
treatment susceptibility
ISO ISS
CTD Direct Evidence: therapeutic CTD Direct Evidence: marker/mechanism human protein in a mouse model human gene in a mouse model DNA:SNP:promoter:-23A>T (rs689) (human) associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human) associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter (human) OMIM:222100 ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus
CTD MouseDO ClinVar RGD
PMID:11921414 PMID:17151334 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20133622 PMID:20226046 PMID:20620209 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22235272 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:26101329 PMID:26467025 PMID:26641800 PMID:28492532 PMID:29420703 PMID:30414308 PMID:33953728 PMID:34789499 PMID:18824271 PMID:21765853 PMID:17284779 PMID:16552513 PMID:20535137 PMID:17284223 PMID:26783749 PMID:15236749 PMID:16382177 PMID:16113600 More...
RGD:2311114 , RGD:150340605 , RGD:150340606 , RGD:150340607 , RGD:150340608 , RGD:150340611 , RGD:150340612 , RGD:150340614 , RGD:150340615 , RGD:150340616
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Irak3
interleukin-1 receptor-associated kinase 3
ISS
OMIM:222100
MouseDO
NCBI chr 7:57,538,522...57,600,166
Ensembl chr 7:55,653,962...55,713,121
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Isl1
ISL LIM homeobox 1
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:15161765
RGD:2311116
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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Itga2
integrin subunit alpha 2
ISO
protein:altered expression:thymocyte (mouse)
RGD
PMID:18567821
RGD:2307423
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itga4
integrin subunit alpha 4
treatment
ISO
RGD
PMID:7528925
RGD:13593534
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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Itpr3
inositol 1,4,5-trisphosphate receptor, type 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: ITPR3-related condition
CTD ClinVar OMIM
PMID:24627108 PMID:25741868 PMID:27549087 PMID:28492532 PMID:32949214 PMID:36302985 More...
NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
CTD ClinVar
PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15838686 PMID:16123337 PMID:16205880 PMID:16416420 PMID:16609879 PMID:16670688 PMID:16731837 PMID:16885550 PMID:17065345 PMID:17327377 PMID:17446535 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17901525 PMID:18025464 PMID:18414213 PMID:18662362 PMID:19065048 PMID:20220270 PMID:20301620 PMID:20466780 PMID:22768671 PMID:24622368 PMID:25308342 PMID:25741868 PMID:26467025 PMID:26839896 PMID:26958039 PMID:27681997 PMID:28480665 PMID:28492532 PMID:29361385 PMID:32792356 PMID:32893419 PMID:33816067 PMID:33987715 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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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 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Lgals3
galectin 3
IEP
RGD
PMID:16600178
RGD:9685204
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lipc
lipase C, hepatic type
ISO
protein:decreased expression:plasma (human)
RGD
PMID:9580247
RGD:2308845
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lta
lymphotoxin alpha
onset susceptibility treatment
ISO
protein:decreased expression:mononuclear cell DNA:polymorphism: :249A>G (human) DNA:SNP (human) DNA:polymorphism: :252A>G (human)
RGD
PMID:9342542 PMID:17989340 PMID:11141334 PMID:19120272 PMID:12622777 PMID:8242903 More...
RGD:2313264 , RGD:2313257 , RGD:2313263 , RGD:2313253 , RGD:2313262 , RGD:8548842
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Madcam1
mucosal vascular addressin cell adhesion molecule 1
ISO
RGD
PMID:9313747 PMID:17827401
RGD:2311545 , RGD:2311544
NCBI chr 7:10,036,301...10,039,703
Ensembl chr 7:10,036,301...10,039,703
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Mbd2
methyl-CpG binding domain protein 2
ISS
OMIM:222100
MouseDO
NCBI chr18:66,449,196...66,516,112
Ensembl chr18:64,174,002...64,240,794
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Mbl2
mannose binding lectin 2
no_association
ISO
RGD
PMID:18361935
RGD:12910829
NCBI chr 1:228,016,439...228,024,736
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Mir126a
microRNA 126a
ISO
RNA:decreased expression:serum
RGD
PMID:27696070
RGD:401850786
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mir146a
microRNA 146a
susceptibility
ISO
DNA:SNP: :rs2910164 (human)
RGD
PMID:28101643
RGD:24922224
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir155
microRNA 155
susceptibility
ISO
DNA:SNP: :rs767649 (human)
RGD
PMID:28101643
RGD:24922224
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:kidney
RGD
PMID:23632630
RGD:13204760
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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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 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Ncam1
neural cell adhesion molecule 1
onset
ISO
protein:increased expression:pancreatic islet
RGD
PMID:15714132
RGD:2326066
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Neurod1
neuronal differentiation 1
no_association
ISO
DNA:polymorphism: :p.A45T (human) DNA:polymorphism:exon
RGD
PMID:15047635 PMID:16909454 PMID:16357810
RGD:2313487 , RGD:2313481 , RGD:2313483
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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Nog
noggin
ISO
mRNA, protein:increased expression:aorta
RGD
PMID:21193740
RGD:10430114
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666113
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
ISO ISS
OMIM:222100
MouseDO RGD
PMID:19535454
RGD:2313214
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666113
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch4
notch receptor 4
ISO
DNA: SNP: 5' utr: rs2395106
RGD
PMID:19143814
RGD:6480791
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Pax4
paired box 4
susceptibility
ISO
DNA:polymorphism: :p.R133W (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15509590 PMID:15834548
RGD:2311634 , RGD:2311633
NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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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 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pdx1
pancreatic and duodenal homeobox 1
ISO ISS
OMIM:222100
MouseDO RGD
PMID:17383157
RGD:2311310
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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Plat
plasminogen activator, tissue type
ISO
RGD
PMID:14652638
RGD:2311676
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Pon1
paraoxonase 1
ISO
protein:decreased expression:serum
RGD
PMID:17949258
RGD:2313270
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppara
peroxisome proliferator activated receptor alpha
ISO
RGD
PMID:19472040
RGD:2313779
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppargc1a
PPARG coactivator 1 alpha
ISO
mRNA:altered expression:heart, brain, mitochondrion (mouse)
RGD
PMID:19542201
RGD:7242046
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
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Ppbp
pro-platelet basic protein
ISO
RGD
PMID:14730686
RGD:1625598
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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Prf1
perforin 1
ISS
OMIM:222100
MouseDO
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Prkcq
protein kinase C, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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Prrc2a
proline-rich coiled-coil 2A
onset
ISO
DNA:polymorphism
RGD
PMID:10987645 PMID:15842729
RGD:2306964 , RGD:2306963
NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130
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Prss1
serine protease 1
IEP
protein:increased expression:serum
RGD
PMID:3833185
RGD:1599966
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Psmb8
proteasome 20S subunit beta 8
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr20:4,654,068...4,657,049
Ensembl chr20:4,652,159...4,655,283
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:11717249
RGD:6483441
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
ClinVar
PMID:18591390 PMID:28492532
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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Pth
parathyroid hormone
ISO
DNA:snp:exon:g.350C>A rs6256 (human)
RGD
PMID:22777106
RGD:7242744
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
onset susceptibility
ISO IAGP
DNA:snp: cds: 1858C>T DNA:missense mutation:cds:p.A629T (rat) DNA:snp:cds:p.R620W (rs2476601) (human) CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:21190368 PMID:30224649 PMID:15004560 PMID:21873553 PMID:25513733 PMID:25505293 PMID:20176734 More...
RGD:6484524 , RGD:6484692 , RGD:11532754 , RGD:9835029 , RGD:11533996
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO IDA
RGD
PMID:19741189 PMID:7568143
RGD:2313289 , RGD:729710
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Ptprn2
protein tyrosine phosphatase, receptor type N2
ISO ISS
OMIM:222100
MouseDO RGD
PMID:12419281 PMID:18193190
RGD:2311684 , RGD:2311682
NCBI chr 6:137,439,572...138,191,575
Ensembl chr 6:137,439,540...138,191,575
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Ran
RAN, member RAS oncogene family
ISO
human gene in a mouse model
RGD
PMID:22114719
RGD:9835390
NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
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Rbfox2
RNA binding fox-1 homolog 2
ISO
mRNA:splice variant: heart (mouse)
RGD
PMID:27239029
RGD:329845874
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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Reg1a
regenerating family member 1 alpha
ISO
human protein in a mouse model
RGD
PMID:9564847
RGD:9850125
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Retn
resistin
ISO
protein:decreased expression:serum
RGD
PMID:15523596
RGD:7207163
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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RT1-Ba
RT1 class II, locus Ba
onset susceptibility
ISO
DNA:polymorphisms: :multiple DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26168013 PMID:12021143 PMID:16731854 PMID:18769865 PMID:17728790
RGD:2301817 , RGD:2301812 , RGD:2301811 , RGD:5147626
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility onset
ISO
DNA:polymorphisms, haplotypes:cds:multiple (human) DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human) associated with Sclerosing Lymphocytic Lobulitis CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26168013 PMID:20858521 PMID:20510319 PMID:17728790 PMID:10562813 PMID:28247576 More...
RGD:5147569 , RGD:5147575 , RGD:5147626 , RGD:11041764 , RGD:14865008
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Da
RT1 class II, locus Da
ISO
RGD
PMID:11812739
RGD:5490164
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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RT1-Db1
RT1 class II, locus Db1
susceptibility onset
ISO
DNA:polymorphisms (human) DNA:polymorphisms: :multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26168013 PMID:12270547 PMID:20858521 PMID:20510319
RGD:2314698 , RGD:5147569 , RGD:5147575
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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RT1-Ha
RT1 class II, locus Ha
ISO
RGD
PMID:7576003
RGD:6480651
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
RGD
PMID:7576003
RGD:6480651
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Sele
selectin E
ISO
protein:increased expression:serum
RGD
PMID:18791689
RGD:2313595
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Sell
selectin L
ISS
OMIM:222100
MouseDO
NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456
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Senp1
SUMO specific peptidase 1
ISS
OMIM:222100
MouseDO
NCBI chr 7:129,163,173...129,226,766
Ensembl chr 7:129,165,774...129,221,598
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Serpina7
serpin family A member 7
ISO
protein:decreased expression:serum
RGD
PMID:1867879
RGD:2312330
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
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Serpinf1
serpin family F member 1
ISO
protein:increased expression:serum
RGD
PMID:17971181
RGD:2312345
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sh2b3
SH2B adaptor protein 3
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: : (rs3184504) (human) DNA:missense mutation:exon: (rs3184504) (human)
CTD RGD
PMID:30224649 PMID:21873553 PMID:21829393
RGD:6484692 , RGD:153297780
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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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 RGD
PMID:16597321 PMID:21524304 PMID:19768110 PMID:16550170 PMID:15877293
RGD:5684926 , RGD:5684932 , RGD:5684950 , RGD:5684955
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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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 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
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Slc29a3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19336477 PMID:20140240
NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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Sod1
superoxide dismutase 1
ISO
DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human)
RGD
PMID:18423055
RGD:2312364
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
DNA:polymorphism: :p.A16V (human)
RGD
PMID:18423055
RGD:2312364
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:18682608
RGD:2308812
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25038750
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat4
signal transducer and activator of transcription 4
ISS
OMIM:222100
MouseDO
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
DNA:insertion:intron (human) DNA:mutation:promoter (mouse) DNA:polymorphisms (human)
RGD
PMID:9458110 PMID:9300732 PMID:9129974
RGD:2312369 , RGD:2312370 , RGD:2312371
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:1300236 PMID:17192492
RGD:2312373 , RGD:2312368
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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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 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
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Tf
transferrin
ISO
RGD
PMID:22861364
RGD:7244379
NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511
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Tgfb1
transforming growth factor, beta 1
ISO
protein:increased expression:urine
RGD
PMID:18979373
RGD:2306737
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
ClinVar
PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:28492532 PMID:33953728 More...
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Thbd
thrombomodulin
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:11738074
RGD:2312458
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:serum
RGD
PMID:17020653
RGD:2312468
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:serum
RGD
PMID:17020653
RGD:2312468
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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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 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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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 chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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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 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23640034 PMID:19120272
RGD:2313253
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfsf10
TNF superfamily member 10
ISO
RGD
PMID:12882912 PMID:18057577
RGD:2312743 , RGD:2312740
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tnfsf4
TNF superfamily member 4
ISS
OMIM:222100
MouseDO
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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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 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Ucp3
uncoupling protein 3
ISO
RGD
PMID:18678617
RGD:2313502
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
IEP
mRNA, protein:increased expression:liver
RGD
PMID:9841869
RGD:1600450
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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Vav1
vav guanine nucleotide exchange factor 1
IEP
mRNA, protein:increased expression:thymus
RGD
PMID:10433093
RGD:2306005
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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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 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:20309012
RGD:5685388
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Vwf
von Willebrand factor
IEP
RGD
PMID:10729383
RGD:13673887
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
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Wfs1
wolframin ER transmembrane glycoprotein
no_association
ISO
DNA:mutations:exons, 5' utr, 3' utr:multiple DNA:missense mutation: :p.R456H (human)
RGD
PMID:15056606 PMID:15008830 PMID:10679252
RGD:8694393 , RGD:8694396 , RGD:8694402
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602
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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 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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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 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Il2ra
interleukin 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 10 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614 More...
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 17
ClinVar
PMID:25741868
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Igf2
insulin-like growth factor 2
ISS
OMIM:125852
MouseDO
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18840770 PMID:19900242 PMID:19952343 PMID:20007936 PMID:20034470 PMID:20226046 PMID:20301620 PMID:20938745 PMID:20948967 PMID:22831748 PMID:22957706 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:26641800 PMID:27634015 PMID:28492532 PMID:30456822 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32792356 PMID:32916194 PMID:32994272 PMID:33953728 PMID:34593315 PMID:34789499 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.C96Y (mouse)
OMIM ClinVar CTD RGD
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18840770 PMID:19900242 PMID:19952343 PMID:20007936 PMID:20034470 PMID:20133622 PMID:20226046 PMID:20301620 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22831748 PMID:22957706 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:26641800 PMID:27634015 PMID:28492532 PMID:30456822 PMID:30977832 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32252216 PMID:32792356 PMID:32916194 PMID:32994272 PMID:33852861 PMID:33953728 PMID:34584998 PMID:34593315 PMID:34789499 PMID:17911348 More...
RGD:14401710
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Lipc
lipase C, hepatic type
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
ClinVar
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25995285 PMID:28492532 PMID:28870971 PMID:30333156 More...
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
ClinVar
PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 PMID:33953728 More...
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 20 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 20 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9112026 PMID:9166684 PMID:9313763 PMID:9313764 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:11463573 PMID:11668618 PMID:11942313 PMID:12050210 PMID:12355088 PMID:12359128 PMID:12453420 PMID:12453976 PMID:12530534 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12832318 PMID:14747304 PMID:15114102 PMID:15649945 PMID:15657605 PMID:15726414 PMID:15883474 PMID:15928245 PMID:16917892 PMID:16930618 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:19150152 PMID:19169489 PMID:19929997 PMID:20393147 PMID:21051477 PMID:21224407 PMID:21236713 PMID:21395678 PMID:21628466 PMID:21648289 PMID:21683639 PMID:21696527 PMID:21823540 PMID:22348187 PMID:22432108 PMID:22808921 PMID:23348805 PMID:23551881 PMID:23607861 PMID:23610083 PMID:23674172 PMID:23803251 PMID:24069322 PMID:24097065 PMID:25174781 PMID:25555642 PMID:25741868 PMID:25935773 PMID:26059258 PMID:26110317 PMID:26431509 PMID:26467025 PMID:26479152 PMID:27148439 PMID:27899486 PMID:28012402 PMID:28170077 PMID:28395978 PMID:28410371 PMID:28492532 PMID:28862987 PMID:29207974 PMID:29417725 PMID:29439679 PMID:30191644 PMID:30293189 PMID:30455330 PMID:30814848 PMID:31166087 PMID:31264968 PMID:31365591 PMID:31483937 PMID:31517624 PMID:31576961 PMID:31638168 PMID:32238361 PMID:32395877 PMID:32741144 PMID:32910913 PMID:33242514 PMID:33245425 PMID:34373539 PMID:34496959 PMID:34556497 PMID:35328643 PMID:35673428 PMID:36208030 PMID:36257325 PMID:36613572 PMID:37396188 More...
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Ccr5
C-C motif chemokine receptor 5
susceptibility
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 22 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:25741868
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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LOC120095693
small ubiquitin-related modifier 2-like
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
OMIM CTD ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137
NCBI chr11:79,163,457...79,164,088
Ensembl chr11:79,163,634...79,163,960
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Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 5
ClinVar
PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
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Neurod1
neuronal differentiation 1
ISS
OMIM:600321
MouseDO
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO ISS
DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human) ClinVar Annotator: match by term: EIF2AK3-related condition | ClinVar Annotator: match by term: Wolcott-Rallison dysplasia OMIM:226980 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID:16199547 PMID:16813601 PMID:19837917 PMID:23771172 PMID:24411943 PMID:25741868 PMID:26380986 PMID:26860746 PMID:28492532 PMID:28843469 PMID:31183082 PMID:31264968 PMID:31638168 PMID:34426871 PMID:10932183 More...
RGD:734923
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
G
Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.4216T>C (human)
RGD
PMID:9309689
RGD:5490247
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15277431 PMID:16806192 PMID:17568405 PMID:17603484 PMID:18060660 PMID:19344068 PMID:20301750 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22238590 PMID:23429432 PMID:23596069 PMID:24033266 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25741868 PMID:26435059 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29207974 PMID:30014265 PMID:30245029 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31567480 PMID:31980526 PMID:32141364 PMID:33046911 PMID:33763535 PMID:33841295 PMID:33879153 PMID:34404380 PMID:34426522 PMID:35018440 PMID:35469785 PMID:36098976 PMID:36208030 PMID:36227502 PMID:37508961 PMID:37510321 PMID:9771706 More...
RGD:1599813
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO ISS
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM:222300
OMIM ClinVar MouseDO
PMID:1161832 PMID:1615141 PMID:3095763 PMID:3126496 PMID:3387915 PMID:3442652 PMID:3478949 PMID:8808601 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12565131 PMID:12754709 PMID:12782971 PMID:12913071 PMID:12955714 PMID:15008830 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16195229 PMID:16199547 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18660851 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20160352 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21454619 PMID:21538838 PMID:21564155 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22662265 PMID:22797899 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23596069 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24117146 PMID:24227685 PMID:24424032 PMID:24497219 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25250959 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26773575 PMID:26875006 PMID:26969326 PMID:27045389 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27434582 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28502252 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28993341 PMID:29048421 PMID:29095814 PMID:29183106 PMID:29207974 PMID:29447883 PMID:29529044 PMID:29549887 PMID:29563951 PMID:29632382 PMID:29850290 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32219690 PMID:32350710 PMID:32382995 PMID:32567228 PMID:32645618 PMID:32883240 PMID:32938580 PMID:33031055 PMID:33046911 PMID:33098801 PMID:33116287 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34006618 PMID:34258273 PMID:34356170 PMID:34387732 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34737607 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34803393 PMID:34837038 PMID:34970515 PMID:34997062 PMID:35018440 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35602877 PMID:35810424 PMID:35872528 PMID:35982127 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:36958120 PMID:37041640 PMID:37337769 PMID:37444722 PMID:37508961 PMID:37510321 More...
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602
G
Cisd2
CDGSH iron sulfur domain 2
ISO
ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :109G>C (p.E37Q) (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 PMID:17846994 PMID:19451219 More...
RGD:10045603 , RGD:10045601
NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
G
Cisd3
CDGSH iron sulfur domain 3
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550
G
Pcgf2
polycomb group ring finger 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
G
Slc9b1
solute carrier family 9 member B1
ISO
ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532
NCBI chr 2:226,442,892...226,502,966
Ensembl chr 2:223,769,105...223,818,179
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