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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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AIRE
autoimmune regulator
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9921903 PMID:16982213 PMID:29959280
RGD:1599008 RGD:38599145
NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532
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AIRE
autoimmune regulator
ISO
ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
OMIM ClinVar
PMID:1836330 PMID:2943776 PMID:6031738 PMID:9398839 PMID:9398840 PMID:9536098 PMID:9717837 PMID:9837820 PMID:9856486 PMID:9888391 PMID:9921903 PMID:10084559 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: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:18320920 PMID:18399903 PMID:18414213 PMID:18414681 PMID:18426830 PMID:18616706 PMID:18682433 PMID:18708298 PMID:18713028 PMID:18728167 PMID:19037923 PMID:19209622 PMID:19246027 PMID:19265170 PMID:19322061 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: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:24033266 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: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:29129473 PMID:29335648 PMID:29437776 PMID:29666621 PMID:30003128 PMID:30287219 PMID:30290665 PMID:30697212 PMID:30863741 PMID:31420020 PMID:31433868 PMID:31588815 PMID:31589614 PMID:31874111 PMID:32373116 PMID:32441320 PMID:32531373 PMID:32627016 PMID:32767280 PMID:32888943 PMID:33225392 PMID:33247909 PMID:33352647 PMID:33468135 PMID:33574239 PMID:33599910 PMID:34008892 PMID:34217342 PMID:34426522 PMID:34573280 PMID:34846681 PMID:35482138 PMID:35521792 PMID:35753512 More...
NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532
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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 chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719
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DNMT3L
DNA methyltransferase 3 like
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,119,025...207,141,990
Ensembl chr13:207,119,051...207,132,538
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GHRH
growth hormone releasing hormone
ISO
RGD
PMID:22506635
RGD:10401267
NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
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ICOSLG
inducible T cell costimulator ligand
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,106,202...207,115,886
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ITGB2
integrin subunit beta 2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
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LOC100518807
keratin-associated protein 10-12
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:204,987,662...204,988,803
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LOC100622826
keratin-associated protein 10-3-like
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,403,140...207,404,529
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LOC106508044
keratin-associated protein 12-1-like
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,393,361...207,394,154
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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 chr13:207,270,099...207,275,901
Ensembl chr13:207,271,416...207,272,189
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PFKL
phosphofructokinase, liver type
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,167,287...207,191,688
Ensembl chr13:207,167,281...207,191,671
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PTTG1IP
PTTG1 interacting protein
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,493,656...207,507,089
Ensembl chr13:207,493,659...207,499,867
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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 chr13:207,475,303...207,484,362
Ensembl chr13:207,476,441...207,484,250
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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 chr13:207,212,339...207,263,313
Ensembl chr13:207,212,457...207,262,064
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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 chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
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UBE2G2
ubiquitin conjugating enzyme E2 G2
ISO
ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar
PMID:28492532
NCBI chr13:207,444,529...207,471,826
Ensembl chr13:207,444,533...207,471,796
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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 8:118,814,352...119,114,973
Ensembl chr 8:118,814,061...119,157,504
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CD4
CD4 molecule
treatment
ISO
RGD
PMID:1680568
RGD:10058966
NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T(rs11571302)(human) ClinVar Annotator: match by term: Hashimoto thyroiditis
RGD ClinVar
PMID:14986169 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614 More...
RGD:7421515
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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GJA1
gap junction protein alpha 1
ISO
mRNA,protein:decreased expression, altered expression:thyroid gland:
RGD
PMID:8770903
RGD:7349390
NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
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GJB1
gap junction protein beta 1
ISO
mRNA,protein:decreased expression, altered expression:thyroid gland:
RGD
PMID:8770903
RGD:7349390
NCBI chr X:57,241,990...57,249,496
Ensembl chr X:57,242,045...57,249,885
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GJB2
gap junction protein beta 2
ISO
mRNA,protein:decreased expression, altered expression:thyroid gland:
RGD
PMID:8770903
RGD:7349390
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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IFNG
interferon gamma
ISO
mRNA:increased expression:thyroid:
RGD
PMID:10560963
RGD:10755769
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL17A
interleukin 17A
ISO
protein:increased expression:thyroid gland
RGD
PMID:17046971
RGD:4841878
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL4
interleukin 4
ISO
RGD
PMID:9892610
RGD:8142396
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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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 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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LOC100158069
Fc receptor-like protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952073
NCBI chr 4:92,460,744...92,506,002
Ensembl chr 4:92,460,862...92,504,024
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LRP2
LDL receptor related protein 2
ISO
RGD
PMID:10404822
RGD:1641847
NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694
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MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon: associated with hepatitis C;DNA:SNP:exon:
RGD
PMID:19703233 PMID:22360648
RGD:14696815 RGD:8693703
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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PSMB9
proteasome 20S subunit beta 9
ISO
DNA:missense mutation: cds: Arg60His
RGD
PMID:12189117
RGD:6483439
NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523
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PTPN22
protein tyrosine phosphatase non-receptor type 22
ISO
RGD
PMID:22374238
RGD:6484667
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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SLA
Src like adaptor
ISO
ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3
ClinVar
PMID:25741868
NCBI chr 4:8,166,829...8,247,396
Ensembl chr 4:8,189,232...8,247,388
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SLA-DRA
MHC class II DR-alpha
ISO
RGD
PMID:12126634
RGD:5147805
NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,054...24,835,158
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TG
thyroglobulin
ISO
ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3
ClinVar OMIM
PMID:8325944 PMID:9588493 PMID:10403171 PMID:10404833 PMID:11484898 PMID:12915634 PMID:14657345 PMID:14764776 PMID:15579800 PMID:15769978 PMID:16477365 PMID:16720658 PMID:19339519 PMID:19438905 PMID:19837936 PMID:20089614 PMID:20410234 PMID:21128992 PMID:21372558 PMID:21757724 PMID:23035660 PMID:23164529 PMID:23535966 PMID:24033266 PMID:25741868 PMID:28444304 PMID:28492532 PMID:28942902 PMID:29275168 PMID:29590070 PMID:33692749 PMID:34248839 PMID:34484748 PMID:34780050 More...
NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
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TLR3
toll like receptor 3
ISO
protein:increased expression:thyroid gland (human)
RGD
PMID:15661832
RGD:5128798
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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TNF
tumor necrosis factor
ISO
RGD
PMID:17046971
RGD:4841878
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TSHR
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952073
NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
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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
OMIM ClinVar
PMID:11440990 PMID:15294872 PMID:25741868 PMID:25741915 PMID:28940097
NCBI chr 4:6,969,692...7,174,989
Ensembl chr 4:7,016,774...7,174,985
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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 chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786
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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
OMIM ClinVar
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: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: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:30773290 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34746052 PMID:35206658 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 More...
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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CAT
catalase
treatment
ISO
protein:increased activity:plasma: protein:decreased activity:blood:
RGD
PMID:15158621 PMID:20394549
RGD:9071200 RGD:9086875
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CCL2
chemokine (C-C motif) ligand 2
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:18284633
RGD:8549459
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CTLA4
cytotoxic T-lymphocyte associated protein 4
severity no_association
ISO
protein:increased expression:serum: associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)
RGD
PMID:16893393 PMID:19734241 PMID:22663548
RGD:7421511 RGD:7421521 RGD:7421523
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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ICAM1
intercellular adhesion molecule 1
ISO
DNA:polymorphism: :c.1405A>G (human)
RGD
PMID:14557478
RGD:8158124
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFNG
interferon gamma
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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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 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IL10
interleukin 10
ISO
DNA:SNP:promoter:-819C>T (human) protein:increased expression:serum
RGD
PMID:11753760 PMID:21067483
RGD:7364859 RGD:7365083
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL18
interleukin 18
treatment
ISO
RGD
PMID:12689659
RGD:8655878
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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IL1RN
interleukin 1 receptor antagonist
susceptibility severity
ISO
DNA:snp:exon:11100 C>T (rs315952) (human) protein:increased expression:serum (human)
RGD
PMID:12186498 PMID:19702713
RGD:7387296 RGD:8549808
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IL2
interleukin 2
ISO
RGD
PMID:2786308
RGD:8662939
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL23R
interleukin 23 receptor
no_association susceptibility
ISO
DNA:SNPs: :rs10889677,rs2201841(human) DNA:SNPs: :rs2201841,rs10889677(human)
RGD
PMID:18073300 PMID:22663548
RGD:7421521 RGD:8549554
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
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KIF1A
kinesin family member 1A
ISO
RGD
PMID:26451909
RGD:12911230
NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826
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PPARG
peroxisome proliferator activated receptor gamma
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:14588098
RGD:8552818
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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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 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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SCD
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr14:111,461,560...111,478,033
Ensembl chr14:111,461,569...111,478,020
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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 chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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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:8444271 PMID:15219383 PMID:16191343
RGD:12904066 RGD:7365073 RGD:7794734
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TSHR
thyroid stimulating hormone receptor
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:intron:rs179247 (human)
RGD CTD
PMID:20237164 PMID:22673349 PMID:31705858
RGD:8548662 RGD:8548673
NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
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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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
G
ADRB2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human)
RGD
PMID:17143563
RGD:8548467
NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
G
ARID5B
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr14:65,408,603...65,598,485
Ensembl chr14:65,408,598...65,598,485
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B3GNT2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 3:79,671,393...79,704,049
Ensembl chr 3:79,670,748...79,704,000
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BTNL2
butyrophilin like 2
onset
ISO
DNA:SNP: :rs17577980(human)
RGD
PMID:24684463
RGD:9685042
NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,790,614...24,807,432
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C4A
complement C4A (Rodgers blood group)
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,019...24,083,061
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CAT
catalase
treatment
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:12919155
RGD:9068908
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CD4
CD4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519
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CD40
CD40 molecule
no_association onset
ISO
DNA:SNP:5' utr:-1C>T (human)
RGD
PMID:12593727 PMID:15307939 PMID:18755875
RGD:8547766 RGD:8547769 RGD:8547778
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
treatment
ISO
RGD
PMID:8875745
RGD:8547747
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility no_association
ISO
DNA:SNP:promoter:-318C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :rs231779(human) DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human) DNA:polymorphism:exon:49G>A(human) DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human) DNA:SNP: :-318C>T(rs11571302)(human)
RGD CTD
PMID:9672157 PMID:9861324 PMID:10369864 PMID:10404810 PMID:12780750 PMID:14986169 PMID:15785242 PMID:19731979 PMID:20352109 PMID:21841780 PMID:23104008 More...
RGD:11352245 RGD:1300388 RGD:2302000 RGD:2302001 RGD:7421505 RGD:7421507 RGD:7421515 RGD:7421517
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
associated with Herpesviridae Infections
RGD
PMID:19903800
RGD:5147671
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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DNMT1
DNA methyltransferase 1
treatment
ISO
DNA:polymorphism: :32204 G>A(human)
RGD
PMID:23039890
RGD:9588624
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
G
ESR2
estrogen receptor 2
susceptibility no_association
ISO
DNA:snp:intron:IVS8G>A (rs4986938) (human) DNA:repeat
RGD
PMID:11180758 PMID:17941906
RGD:10045850 RGD:8693348
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
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FAS
Fas cell surface death receptor
ISO
protein:increased expression:thyroid gland, thyrocyte (human)
RGD
PMID:11422195
RGD:8662820
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FKBP1B
FKBP prolyl isomerase 1B
ISO
RGD
PMID:15497458
RGD:1580387
NCBI chr 3:114,623,529...114,636,200
Ensembl chr 3:114,623,532...114,634,628
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GC
GC vitamin D binding protein
susceptibility
ISO
DNA:repeats:intron CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:p.T420K(human)
RGD CTD
PMID:12050214 PMID:16868893
RGD:5509883 RGD:5509886
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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ICAM1
intercellular adhesion molecule 1
onset no_association
ISO
protein:increased expression:blood, lymphocyte DNA:polymorphism: :c.721G>A (human) DNA:SNP: :p.K469E (rs5498) (human)
RGD
PMID:12357047 PMID:14557478 PMID:17873320
RGD:8158121 RGD:8158124 RGD:8547702
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFIH1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17535987
NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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IFNG
interferon gamma
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:+874A>T(human) DNA:microsatellite repeats:intron: protein:increased expression:serum: DNA:repeats:intron:
RGD CTD
PMID:2125901 PMID:9848715 PMID:15068623 PMID:15544617 PMID:16970687 PMID:33132244 More...
RGD:8142372 RGD:8142373 RGD:8142393 RGD:8157599 RGD:8157604
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IGF1
insulin like growth factor 1
ISO
mRNA,protein:increased expression:thyroid gland:
RGD
PMID:9857239
RGD:8548837
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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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 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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IL10
interleukin 10
no_association
ISO
DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human) protein:increased expression:serum DNA:SNP: :rs1800896 (human) DNA:SNPs:promoter:multiple
RGD
PMID:15497451 PMID:19250272 PMID:19882211 PMID:21424183
RGD:7364858 RGD:7364862 RGD:7365026 RGD:7365074
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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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:15483090 PMID:21235536
RGD:7829719 RGD:8549544
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL17A
interleukin 17A
susceptibility
ISO
DNA:snp:intron:IVS1+18G>A (rs3819025) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22816799 PMID:33132244
RGD:9068423
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
G
IL18
interleukin 18
no_association
ISO
DNA:SNPs:promoter, exon:multiple protein:increased expression:serum
RGD
PMID:12689659 PMID:16571086
RGD:8655878 RGD:8655916
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL2
interleukin 2
ISO
RGD
PMID:2279527
RGD:8662947
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
G
IL23R
interleukin 23 receptor
susceptibility no_association
ISO
DNA:SNP: :rs7530511(human) DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)
RGD
PMID:18073300 PMID:19021011
RGD:8549554 RGD:8549564
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
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IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
G
IL6
interleukin 6
disease_progression
ISO
DNA:polymorphism:promoter:-572C>G(human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
RGD CTD
PMID:12818091 PMID:16372246 PMID:21235536
RGD:7829719 RGD:7829750
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
IL6R
interleukin 6 receptor
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD RGD
PMID:12818091 PMID:16372246
RGD:7829750
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
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ITGB3
integrin subunit beta 3
ISO
RGD
PMID:23109646
RGD:8693341
NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,514...16,752,292
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LOC100158069
Fc receptor-like protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21841780
NCBI chr 4:92,460,744...92,506,002
Ensembl chr 4:92,460,862...92,504,024
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LOC100739508
glutathione S-transferase P-like
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:17980001
RGD:8547807
NCBI chr 2:5,005,498...5,009,247
G
LOC110258578
interleukin-1 beta-like
ISO
DNA:SNP:promoter:-511C>T (human)
RGD
PMID:2674184 PMID:16025481
RGD:7401177 RGD:7401207
G
LTA
lymphotoxin alpha
no_association
ISO
DNA:polymorphism
RGD
PMID:1346144 PMID:7928443
RGD:8548778 RGD:8548790
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
G
MTHFR
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T(human)
RGD
PMID:20941748
RGD:7387246
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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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 chr13:66,038,669...66,045,478
G
PDCD1
programmed cell death 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
G
PTPN22
protein tyrosine phosphatase non-receptor type 22
no_association
ISO
DNA: SNP: cds: C1858T DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human) CTD Direct Evidence: marker/mechanism DNA:SNP, haplotype:promoter:-1123G>C (human)
RGD CTD
PMID:15504986 PMID:17608818 PMID:18687223 PMID:21190368
RGD:6484538 RGD:7829738 RGD:7829763
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
G
RNASET2
ribonuclease T2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21841780
NCBI chr 1:2,146,707...2,164,768
G
SERPINE1
serpin family E member 1
treatment
ISO
protein:increased expression:tears (human)
RGD
PMID:11980614 PMID:22385289
RGD:8547709 RGD:8547756
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16195404
RGD:7207875
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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STAT6
signal transducer and activator of transcription 6
ISO
RGD
PMID:15117875
RGD:7244137
NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989
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TG
thyroglobulin
no_association treatment
ISO
DNA:SNPs:exon:multiple CTD Direct Evidence: marker/mechanism protein:increased expression:serum DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human) DNA:SNP:exon
RGD CTD
PMID:95586 PMID:14636875 PMID:17550957 PMID:18656705 PMID:22662162 PMID:33132244 More...
RGD:8548606 RGD:8548630 RGD:8548643 RGD:8548644 RGD:8548645
NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
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TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :-308G>A(rs1800629)(human) DNA:polymorphism: :-863A>C DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)
RGD
PMID:15219383 PMID:17348243 PMID:19732761
RGD:7365073 RGD:7394790 RGD:7394807
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 6:72,103,309...72,174,882
G
TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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TP53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.p.R72P(human)
RGD
PMID:17980001
RGD:8547807
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TPO
thyroid peroxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 3:132,384,677...132,409,750
Ensembl chr 3:132,384,583...132,409,208
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TSHB
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 4:105,553,070...105,558,769
Ensembl chr 4:105,553,076...105,554,015
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TSHR
thyroid stimulating hormone receptor
treatment no_association
ISO
DNA:SNPs: :multiple CTD Direct Evidence: marker/mechanism DNA:SNPs:intron:rs179247, rs12101255 (human) DNA:polymorphism: :pD727E (human) DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human) DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human)
RGD CTD
PMID:1955520 PMID:7828357 PMID:9528975 PMID:11887032 PMID:19244275 PMID:21124799 PMID:21155717 PMID:21642385 PMID:21841780 PMID:23538203 PMID:24518168 More...
RGD:8548654 RGD:8548655 RGD:8548656 RGD:8548657 RGD:8548661 RGD:8548663 RGD:8548664 RGD:8548665 RGD:8548669
NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
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VDR
vitamin D receptor
no_association
ISO
DNA:SNPs: :rs1544410, rs10735810 (human) DNA:polymorphisms, haplotype DNA:SNPs: :rs731236, rs7975232 (human) DNA:SNP: :rs2228570 (human) DNA:SNPs: :rs1544410, rs7975232 (human) DNA:SNP:exon:rs2228570 (human)
RGD
PMID:11134121 PMID:16100768 PMID:16279845 PMID:17506475
RGD:8157624 RGD:8157628 RGD:8157632 RGD:8158053
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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VEGFA
vascular endothelial growth factor A
ISO
DNA:SNPs: :-2578A>C,-460T>C,405G>C(human)
RGD
PMID:22771446
RGD:7483621
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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BANK1
B cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNP: :rs3733197(human)
RGD
PMID:24127308
RGD:9684981
NCBI chr 8:118,814,352...119,114,973
Ensembl chr 8:118,814,061...119,157,504
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C1S
complement C1s
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11390518
NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214
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CAT
catalase
ISO
protein:increased activity:plasma:
RGD
PMID:20204550
RGD:9068926
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
CD40
CD40 molecule
ISO
protein:increased expression:serum
RGD
PMID:17558708
RGD:8547767
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:17558708
RGD:8547767
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
ClinVar Annotator: match by term: Hashimoto Disease
ClinVar OMIM
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614 More...
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
G
ESR2
estrogen receptor 2
no_association
ISO
DNA:repeat
RGD
PMID:11180758
RGD:10045850
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:throcyte:
RGD
PMID:9161695
RGD:12910543
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
G
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:7626551
RGD:8547592
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFNG
interferon gamma
severity
ISO
DNA:polymorphism:cds:+874A>T(human)
RGD
PMID:16820703
RGD:8142375
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
G
IL6
interleukin 6
ISO
DNA:polymorphism:promoter:-572C>G(human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16372246 PMID:21235536
RGD:7829719
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
IL6R
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
G
MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:22360648
RGD:8693703
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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PSMB9
proteasome 20S subunit beta 9
ISO
RGD
PMID:19924240
RGD:6483332
NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523
G
PTPN22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA: snp: cds: rs2476601
RGD
PMID:15719322
RGD:6484548
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
G
TG
thyroglobulin
no_association
ISO
DNA:SNPs:exon:multiple CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:3052944 PMID:14636875 PMID:18656705 PMID:21559421 PMID:30373627
RGD:8548606 RGD:8548607 RGD:8548630 RGD:8548647
NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
G
TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 6:72,103,309...72,174,882
G
TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
G
TSHR
thyroid stimulating hormone receptor
ISO
DNA:SNP:intron:rs3783938 (human)
RGD
PMID:22673349
RGD:8548662
NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
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:43,885,584...43,895,142
Ensembl chr X:43,885,394...43,895,981
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:42,078,202...42,090,250
Ensembl chr X:42,078,206...42,090,250
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:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
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:43,250,449...43,284,458
Ensembl chr X:43,251,370...43,283,990
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:43,128,938...43,146,777
Ensembl chr X:43,134,275...43,146,775
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:43,285,232...43,303,865
Ensembl chr X:43,285,246...43,303,864
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:43,922,729...43,988,939
Ensembl chr X:43,922,804...43,990,929
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:41,836,268...41,848,580
Ensembl chr X:41,835,987...41,848,574
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:42,145,754...42,152,879
Ensembl chr X:42,143,697...42,152,868
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:42,157,980...42,174,964
Ensembl chr X:42,157,988...42,174,951
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:43,779,016...43,809,472
Ensembl chr X:43,613,628...43,811,526
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:44,001,172...44,180,142
Ensembl chr X:44,001,176...44,180,179
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 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
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:42,670,592...42,678,571
Ensembl chr X:42,670,633...42,678,570
G
ERAS
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,942,033...42,946,715
Ensembl chr X:42,941,664...42,946,524
G
FOXP3
forkhead box P3
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
OMIM ClinVar
PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 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: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:30805323 PMID:30894704 PMID:31027649 PMID:31130284 PMID:31990476 PMID:32279225 PMID:32531870 PMID:33046911 PMID:33194927 PMID:33523441 PMID:33637067 PMID:33751536 PMID:33833438 PMID:34216291 More...
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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:42,609,560...42,620,198
Ensembl chr X:42,609,771...42,620,284
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:42,898,431...42,905,939
Ensembl chr X:42,898,442...42,905,976
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:42,877,034...42,889,285
Ensembl chr X:42,877,140...42,889,271
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:43,177,264...43,192,021
Ensembl chr X:43,177,272...43,191,830
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:43,043,613...43,070,363
Ensembl chr X:43,043,029...43,070,364
G
HDAC6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,917,911...42,941,894
Ensembl chr X:42,917,964...42,941,887
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:41,579,565...41,714,705
Ensembl chr X:41,579,764...41,714,706
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:43,032,355...43,043,310
Ensembl chr X:43,032,358...43,041,760
G
LOC100513450
P antigen family member 4
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:43,489,559...43,496,654
Ensembl chr X:43,446,109...43,494,094
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:43,206,680...43,212,889
Ensembl chr X:43,207,062...43,211,635
G
MIR532
microRNA mir-532
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:43,705,258...43,705,337
Ensembl chr X:43,705,258...43,705,337
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:41,770,929...41,773,879
Ensembl chr X:41,770,941...41,774,245
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:43,001,491...43,029,471
Ensembl chr X:43,000,231...43,029,468
G
PCSK1N
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,947,688...42,952,222
Ensembl chr X:42,947,692...42,949,024
G
PIM2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,993,547...42,998,575
Ensembl chr X:42,993,551...42,998,573
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:43,215,372...43,218,318
Ensembl chr X:43,215,283...43,218,316
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:42,653,696...42,669,526
Ensembl chr X:42,653,789...42,669,517
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:43,328,199...43,344,503
Ensembl chr X:43,328,274...43,344,013
G
PQBP1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,976,086...42,981,732
Ensembl chr X:42,975,413...42,981,724
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:43,147,473...43,150,350
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:43,218,271...43,230,368
Ensembl chr X:43,218,277...43,230,367
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:41,773,232...41,803,656
Ensembl chr X:41,773,232...41,803,653
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:42,704,019...42,707,587
Ensembl chr X:42,704,028...42,707,577
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:41,725,660...41,749,736
Ensembl chr X:41,726,526...41,749,381
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:41,488,866...41,534,810
Ensembl chr X:41,488,626...41,534,799
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:44,301,956...44,543,969
Ensembl chr X:44,332,620...44,543,337
G
SLC35A2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,981,801...42,992,091
Ensembl chr X:42,981,802...42,992,081
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:42,590,608...42,601,537
Ensembl chr X:42,590,607...42,601,502
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:41,233,308...41,399,032
Ensembl chr X:41,236,246...41,398,999
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:42,476,719...42,478,783
Ensembl chr X:42,476,587...42,478,921
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:42,797,309...42,811,457
Ensembl chr X:42,797,828...42,811,461
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:42,090,245...42,142,254
Ensembl chr X:42,090,246...42,142,224
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:43,232,190...43,246,764
Ensembl chr X:43,232,192...43,246,680
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:42,682,267...42,696,579
Ensembl chr X:42,682,269...42,696,574
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:43,100,375...43,116,377
Ensembl chr X:43,100,032...43,116,227
G
TIMM17B
translocase of inner mitochondrial membrane 17B
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,970,586...42,976,287
Ensembl chr X:42,970,108...42,975,955
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:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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:41,810,726...41,832,818
Ensembl chr X:41,814,101...41,832,812
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:41,851,534...41,866,357
Ensembl chr X:41,851,602...41,866,355
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:43,553,454...43,557,247
Ensembl chr X:43,555,005...43,556,321
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:42,176,142...42,184,131
Ensembl chr X:42,176,145...42,184,079
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:42,774,597...42,793,055
Ensembl chr X:42,774,588...42,793,055
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:42,715,097...42,730,200
Ensembl chr X:42,722,730...42,730,199
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:43,150,691...43,155,981
Ensembl chr X:43,147,477...43,156,234
G
ZNF157
zinc finger protein 157
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:41,905,319...41,921,484
Ensembl chr X:41,905,226...41,920,880
G
ZNF182
zinc finger protein 182
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,444,227...42,473,308
Ensembl chr X:42,444,230...42,473,285
G
ZNF41
zinc finger protein 41
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:41,931,036...41,984,439
Ensembl chr X:41,934,977...41,984,595
G
ZNF630
zinc finger protein 630
ISO
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
ClinVar
PMID:11137992 PMID:11137993 PMID:28492532
NCBI chr X:42,518,203...42,540,677
Ensembl chr X:42,518,211...42,540,232
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:42,246,548...42,372,191
Ensembl chr X:42,246,751...42,468,024
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:SNP: :49A>G (human)
RGD
PMID:12021137
RGD:2301997
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
G
PHKG2
phosphorylase kinase catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Mauriac syndrome
ClinVar
PMID:27207549 PMID:28492532
NCBI chr 3:17,640,790...17,656,765
Ensembl chr 3:17,639,996...17,656,618
G
ABCC8
ATP binding cassette subfamily C member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18025464
NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
G
ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
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 chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
G
ACHE
acetylcholinesterase
ISO
RGD
PMID:2658981
RGD:2312438
NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
G
ACP1
acid phosphatase 1
onset
ISO
RGD
PMID:11912546 PMID:15586390
RGD:2313182 RGD:2313186
NCBI chr 3:132,671,408...132,684,793
Ensembl chr 3:132,667,045...132,684,674
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19640330
RGD:2313235
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
G
ADRB1
adrenoceptor beta 1
ISO
RGD
PMID:21491159
RGD:6893642
NCBI chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739
G
AGER
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:renal cortex (mouse) DNA:SNP:promoter:-374T>A (human) protein:decreased expression:serum (human) DNA:SNP, haplotype: :557G>A (p.G82S) (human)
RGD
PMID:10553500 PMID:16969646 PMID:18420491 PMID:21738623 PMID:21870072
RGD:2325657 RGD:7243937 RGD:7244183 RGD:8695958 RGD:8695961
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AIF1
allograft inflammatory factor 1
onset
ISO
DNA:polymorphism:intron:rs2259571 (human)
RGD
PMID:9391121 PMID:18987644
RGD:2313043 RGD:2313199
NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,726,787...23,731,671
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AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23499715
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
RGD
PMID:12706323
RGD:2311151
NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
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APOA1
apolipoprotein A1
ISO
protein:increased expression:plasma
RGD
PMID:9578960
RGD:2313962
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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APOA2
apolipoprotein A2
ISO
protein:decreased expression:plasma
RGD
PMID:9578960
RGD:2313962
NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319
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APOB
apolipoprotein B
ISO
RGD
PMID:1579407 PMID:19171731
RGD:2313972 RGD:2313980
NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
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APOC3
apolipoprotein C3
susceptibility
ISO
DNA:polymorphisms: :multiple
RGD
PMID:1579407 PMID:16505251 PMID:21670290
RGD:2306765 RGD:2313972 RGD:7207205
NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
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APOE
apolipoprotein E
ISO
protein:decreased expression:urine (human)
RGD
PMID:22678621
RGD:6903197
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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APOH
apolipoprotein H
ISO
RGD
PMID:9472678
RGD:2313990
NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
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APOM
apolipoprotein M
susceptibility
ISO
DNA:SNP:promoter:g.-778T>C(rs805296)(human)
RGD
PMID:19007767
RGD:2314238
NCBI chr 7:23,768,974...23,773,324
Ensembl chr 7:23,768,984...23,773,324
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ARNTL2
aryl hydrocarbon receptor nuclear translocator like 2
ISO
DNA:SNPs:exon:multiple
RGD
PMID:16893914
RGD:2314359
NCBI chr 5:46,289,873...46,482,369
Ensembl chr 5:46,290,001...46,482,461
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AVP
vasopressin
ISO
RGD
PMID:5692127 PMID:13995944
RGD:2314661 RGD:632128
NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,234...32,583,185
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B2M
beta-2-microglobulin
ISO
RGD
PMID:11572996 PMID:15446308
RGD:2311235 RGD:2311238
NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
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BACH2
BTB domain and CNC homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 1:57,881,203...58,281,740
Ensembl chr 1:57,899,808...58,281,430
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BANK1
B cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNP: :rs3733197(human)
RGD
PMID:24342660
RGD:9684973
NCBI chr 8:118,814,352...119,114,973
Ensembl chr 8:118,814,061...119,157,504
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BCHE
butyrylcholinesterase
onset
ISO
DNA:polymorphism: :p.A539T (human)
RGD
PMID:17026497
RGD:2306779
NCBI chr13:104,946,732...105,007,568
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BTC
betacellulin
susceptibility
ISO
DNA:polymorphism:intron:IVS4-4C>T (human)
RGD
PMID:16683131
RGD:2306966
NCBI chr 8:70,645,721...70,697,538
Ensembl chr 8:70,649,317...70,697,420
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C14H12orf43
chromosome 14 C12orf43 homolog
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar
PMID:25741868
NCBI chr14:40,888,642...40,899,097
Ensembl chr14:40,886,053...40,899,037
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C1QTNF6
C1q and TNF related 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 5:10,601,869...10,606,886
Ensembl chr 5:10,601,762...10,608,777
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C3
complement C3
ISO
RGD
PMID:3253105
RGD:2314031
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CASP3
caspase 3
ISO
protein:increased activity:hippocampus
RGD
PMID:15855338
RGD:2311451
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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CASP8
caspase 8
ISO
RGD
PMID:12753807
RGD:2311431
NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
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CASP9
caspase 9
ISO
RGD
PMID:14617576 PMID:17880769
RGD:2311245 RGD:2311322
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
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CAT
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15111504
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CBL
Cbl proto-oncogene
ISO
mRNA:decreased expression:pancreatic lymph node, mast cell (rat)
RGD
PMID:17082646
RGD:1598972
NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834
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CBLB
Cbl proto-oncogene B
no_association susceptibility
ISO
DNA:SNP:exon:rs3772534 (human) DNA:missense mutations: :multiple (human) DNA:nonsense mutation (rat) DNA:SNPs: :multiple (human)
RGD
PMID:12118252 PMID:14961073 PMID:15629882 PMID:17209142 PMID:18201552
RGD:2314037 RGD:2314039 RGD:2314040 RGD:2314041 RGD:625457
NCBI chr13:153,480,525...153,700,115
Ensembl chr13:153,395,978...153,700,056
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CCL11
chemokine (C-C motif) ligand 11
ISO
protein:increased expression:serum
RGD
PMID:23049540
RGD:7248415
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CCL2
chemokine (C-C motif) ligand 2
onset
ISO
protein:increased expression:serum mRNA:increased expression:pancreatic islet (mouse)
RGD
PMID:11317664 PMID:19092169
RGD:2306983 RGD:8549575
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21340626
NCBI chr15:129,172,743...129,176,069
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CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
DNA:SNPs:rs4251719, rs2306630, rs2107538 (human)
RGD
PMID:16855620
RGD:2307102
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCR2
C-C motif chemokine receptor 2
no_association
ISO
DNA:polymorphism: :p.V64I (human)
RGD
PMID:10400139 PMID:12770795
RGD:2313562 RGD:2313564
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CCR5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) mRNA:increased expression:splenocyte (rat) protein:decreased expression:blood, mononuclear cell
RGD
PMID:12145160 PMID:15240727 PMID:23773920
RGD:2317571 RGD:4890459 RGD:8551818
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD14
CD14 molecule
ISO
protein:increased expression:monocyte
RGD
PMID:10831941 PMID:14614560
RGD:2314173 RGD:2314175
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
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CD28
CD28 molecule
onset
ISO
DNA:polymorphism:intron (human) protein:decreased expression:T cell
RGD
PMID:9410902 PMID:11685455 PMID:15504310
RGD:2307197 RGD:2307199 RGD:2307201
NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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CD36
CD36 molecule
ISO
protein:increased expression:heart
RGD
PMID:7544802
RGD:2307219
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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CD38
CD38 molecule
disease_progression
ISO
OMIM:222100
RGD MouseDO
PMID:12488956 PMID:16459468 PMID:16920929
RGD:2307229 RGD:2307230 RGD:2307231
NCBI chr 8:11,083,682...11,130,783
Ensembl chr 8:11,083,682...11,130,756
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CD40
CD40 molecule
ISO
protein:increased expression:plasma
RGD
PMID:22505539
RGD:6893375
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
treatment
ISO
protein:increased expression:serum
RGD
PMID:12419284 PMID:15448088 PMID:16505242 PMID:16611325 PMID:26716812
RGD:11344963 RGD:2314212 RGD:2314220 RGD:5491182 RGD:8547798
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CD69
CD69 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 5:62,078,134...62,084,961
Ensembl chr 5:62,077,988...62,085,900
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CD80
CD80 molecule
ISO
RGD
PMID:19658094
RGD:5132624
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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CD86
CD86 molecule
onset
ISO
protein:decreased expression:dendritic cells protein:decreased expression:macrophage,dendritic cell,T cell protein:increased expression:dendritic cell human gene in mouse model
RGD
PMID:10679081 PMID:12742378 PMID:15356107 PMID:16232222 PMID:17947667 PMID:18316361 More...
RGD:2313906 RGD:2313911 RGD:2313917 RGD:2313920 RGD:2313927 RGD:4892258
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CDK4
cyclin dependent kinase 4
ISO
OMIM:222100
RGD MouseDO
PMID:10319860
RGD:2314613
NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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CEL
carboxyl ester lipase
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1
ClinVar
PMID:18414213 PMID:25741868
NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,003...272,770,255
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CFB
complement factor B
ISO
DNA:polymorphism protein:increased expression:serum
RGD
PMID:3907907 PMID:19000152
RGD:2311335 RGD:2311338
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
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CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:18957531
RGD:4892627
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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CHRM2
cholinergic receptor muscarinic 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18603373
NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
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CLEC16A
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:rs2903692A CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron:rs725613 (human)
RGD CTD
PMID:17632545 PMID:18946483 PMID:19221398
RGD:2313978 RGD:5491176
NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17603912 PMID:20012460
RGD:2314682
NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476
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CRP
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20012460 PMID:22864910
RGD:6906966 RGD:8547537
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human) 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)
RGD
PMID:8817351 PMID:9259273 PMID:16671945 PMID:18443194
RGD:1300385 RGD:2301958 RGD:2301974 RGD:2301995
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CTSB
cathepsin B
susceptibility
ISO
RGD
PMID:19664906
RGD:2315524
NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
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CTSH
cathepsin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072
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CTSL
cathepsin L
susceptibility
ISO
RGD
PMID:19664906
RGD:2315524
NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618
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CXCL10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:serum
RGD
PMID:16148094 PMID:16339582 PMID:19046227
RGD:2311358 RGD:2311362 RGD:2311363
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL12
C-X-C motif chemokine ligand 12
onset no_association
ISO
mRNA:increased expression:bone marrow DNA:polymorphism:3' utr (human)
RGD
PMID:11334429 PMID:12383202 PMID:14522095 PMID:14679085 PMID:18793419
RGD:2301942 RGD:2306560 RGD:2306561 RGD:2306562 RGD:2306563
NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
susceptibility
ISO
DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)
RGD
PMID:17223345 PMID:17606874
RGD:2307311 RGD:2307312
NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
mRNA:increased expression:leukocyte
RGD
PMID:12743671
RGD:2313684
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
susceptibility
ISO
DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)
RGD
PMID:17607662
RGD:2315692
NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
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DDIT3
DNA damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23499715
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
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DDX39B
DExD-box helicase 39B
ISO
RGD
PMID:11756005
RGD:13702905
NCBI chr 7:23,658,089...23,669,095
Ensembl chr 7:23,658,088...23,670,031
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DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA:increased expression:CD4+ T cell:
RGD
PMID:21864931
RGD:9589109
NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072
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DOCK8
dedicator of cytokinesis 8
ISO
RGD
PMID:26363782
RGD:11532657
NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
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DPP4
dipeptidyl peptidase 4
ISO
RGD
PMID:19073764
RGD:2313702
NCBI chr15:68,661,764...68,742,961
Ensembl chr15:68,660,521...68,743,663
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DUSP1
dual specificity phosphatase 1
ISO
RGD
PMID:7485483
RGD:2298693
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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E2F1
E2F transcription factor 1
ISO
E2f1/E2f2 double knockout OMIM:222100
RGD MouseDO
PMID:15146237
RGD:1300306
NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883
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E2F2
E2F transcription factor 2
ISO
E2f1/E2f2 double knockout
RGD
PMID:15146237
RGD:1300306
NCBI chr 6:81,377,922...81,398,862
Ensembl chr 6:81,377,924...81,398,867
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EDN1
endothelin 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:2198188
RGD:4144835
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EGFR
epidermal growth factor receptor
ISO
protein:decreased phosphorylation:liver (rat)
RGD
PMID:2833110
RGD:5131531
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
DNA:polymorphism
RGD
PMID:15483661
RGD:1601017
NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,943...57,506,245
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ETS1
ETS proto-oncogene 1, transcription factor
ISO
DNA:polymorphism (human)
RGD
PMID:1686010 PMID:1982251
RGD:2313850 RGD:2313901
NCBI chr 9:55,377,264...55,512,180
Ensembl chr 9:55,377,266...55,512,115
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F7
coagulation factor VII
ISO
DNA:polymorphism:cds:R353Q (human) protein:increased activity, expression:plasma (human) associated with Kidney Failure; protein:increased expression:plasma (human)
RGD
PMID:9686915 PMID:11146704 PMID:11297753 PMID:15860378
RGD:2312383 RGD:2312384 RGD:2312385 RGD:2312389
NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668
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FADS2
fatty acid desaturase 2
treatment
ISO
associated with hypertension
RGD
PMID:15589689
RGD:401901188
NCBI chr 2:9,633,941...9,666,666
Ensembl chr 2:9,629,423...9,735,576
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FAS
Fas cell surface death receptor
ISO
protein:increased expression:insulin-secreting cells
RGD
PMID:9254659 PMID:19120316
RGD:2315742 RGD:2315754
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
ISO
protein:increased expression:lymphocyte mRNA:decreased expression:lymphocyte
RGD
PMID:16180659 PMID:17324464 PMID:19120316
RGD:2315742 RGD:2315748 RGD:2315751
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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FGF21
fibroblast growth factor 21
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23499715
NCBI chr 6:54,082,653...54,084,532
Ensembl chr 6:54,080,739...54,084,601
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FOXO1
forkhead box O1
ISO
protein:altered localization:nucleus,liver cell:
RGD
PMID:15546000
RGD:10045358
NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473
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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
RGD ClinVar
PMID:11137992 PMID:25741868
RGD:1598959
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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FUCA1
alpha-L-fucosidase 1
ISO
protein:decreased activity:plasma
RGD
PMID:7304074
RGD:2315949
NCBI chr 6:81,638,213...81,655,993
Ensembl chr 6:81,637,994...81,656,068
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G6PD
glucose-6-phosphate dehydrogenase
ISO
protein:decreased expression:erythrocyte
RGD
PMID:15914531
RGD:2307348
NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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GAD2
glutamate decarboxylase 2
susceptibility onset
ISO
OMIM:222100
RGD MouseDO
PMID:18005036 PMID:19085183 PMID:19188044 PMID:19741189
RGD:2313289 RGD:2313292 RGD:2313294 RGD:2313296
NCBI chr10:49,316,682...49,391,013
Ensembl chr10:49,313,647...49,390,926
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GAL
galanin and GMAP prepropeptide
ISO
protein:increased expression:plasma mRNA, protein:increased expression:celiac ganglion
RGD
PMID:16060906 PMID:16487586
RGD:1624331 RGD:2313736
NCBI chr 2:4,351,113...4,357,167
Ensembl chr 2:4,351,113...4,356,647
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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 chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941
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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 chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626
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GC
GC vitamin D binding protein
ISO
DNA:polymorphism:exon:p.D416E(human)
RGD
PMID:11239517
RGD:2315558
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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GHR
growth hormone receptor
ISO
mRNA, protein:decreased expression:kidney, liver
RGD
PMID:11469393 PMID:12054124
RGD:2307366 RGD:2307367
NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449
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GIMAP5
GTPase, IMAP family member 5
ISO
DNA:frameshift deletion
RGD
PMID:12031988 PMID:12097339
RGD:619544 RGD:633092
NCBI chr18:6,363,443...6,371,725
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GLIS3
GLIS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 1:217,572,604...218,117,629
Ensembl chr 1:217,629,883...218,117,267
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GPX3
glutathione peroxidase 3
ISO
protein:decreased activity:plasma (human)
RGD
PMID:16489975
RGD:2312634
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411
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HDAC2
histone deacetylase 2
ISO
protein:decreased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
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HDAC3
histone deacetylase 3
ISO
protein:decreased expression:pancreatic beta cell:
RGD
PMID:22772764
RGD:9590127
NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
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HNF1A
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Type I diabetes mellitus
OMIM 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: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: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:30202817 PMID:30293189 PMID:30455330 PMID:30814848 PMID:31264968 PMID:31363388 PMID:31365591 PMID:31419515 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:36613572 More...
NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
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HP
haptoglobin
treatment
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16506275 PMID:20853098 PMID:20975081
RGD:11041804 RGD:11041868
NCBI chr 6:14,980,382...14,985,245
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HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11916625 PMID:16616286
RGD:2308923 RGD:2308924
NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
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IAPP
islet amyloid polypeptide
ISO
protein:decreased expression:plasma
RGD
PMID:19033417 PMID:19190104
RGD:2313356 RGD:2313357
NCBI chr 5:52,046,570...52,051,475
Ensembl chr 5:52,046,573...52,050,446
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ICA1
islet cell autoantigen 1
onset
ISO
mRNA, protein:decreased expression:thymus gland
RGD
PMID:8647206 PMID:11751995 PMID:14679103
RGD:2311486 RGD:2311487 RGD:2311488
NCBI chr 9:78,364,478...78,515,092
Ensembl chr 9:78,332,393...78,515,087
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ICAM1
intercellular adhesion molecule 1
susceptibility
ISO
DNA:polymorphism protein:increased expression:plasma
RGD
PMID:16978373 PMID:19373518
RGD:1625758 RGD:2313468
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism OMIM:222100
CTD MouseDO RGD
PMID:8977415 PMID:18644830 PMID:21340626
RGD:10755748 RGD:2311493
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IFNGR2
interferon gamma receptor 2
ISO
OMIM:222100
MouseDO
NCBI chr13:197,007,303...197,035,604
Ensembl chr13:197,007,303...197,035,604
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IGF1
insulin like growth factor 1
severity
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:15356074 PMID:16887362 PMID:19156625 PMID:24632065
RGD:2306688 RGD:2313765 RGD:2313769
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IGF2
insulin like growth factor 2
ISO
mRNA, protein:decreased expression:thymus
RGD
PMID:11307180
RGD:5510007
NCBI chr 2:1,469,183...1,496,417
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IGF2R
insulin like growth factor 2 receptor
ISO
DNA:SNP (human)
RGD
PMID:15531531
RGD:2311611
NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
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IGFBP3
insulin like growth factor binding protein 3
severity
ISO
RGD
PMID:15356074 PMID:16887362
RGD:2313765 RGD:2313769
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17997340 PMID:19430480
RGD:2308949
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL15
interleukin 15
ISO
protein:increased expression:serum
RGD
PMID:16098919 PMID:17670937
RGD:2313574 RGD:2313577
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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IL18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:18359638
RGD:8655935
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:small intestine mucosa mRNA:increased expression:pancreatic islet, leukocyte
RGD
PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531
RGD:2311064 RGD:2311065 RGD:2311067 RGD:2311075
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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IL1R1
interleukin 1 receptor type 1
ISO
DNA:SNP (human) OMIM:222100 DNA:polymorphism protein:decreased expression:pancreatic islet
RGD MouseDO
PMID:7835294 PMID:8911996 PMID:11197691
RGD:2311068 RGD:2311106 RGD:6892703
NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
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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
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IL2
interleukin 2
onset
ISO
RGD
PMID:3514237 PMID:17670937
RGD:10047089 RGD:2313574
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL20
interleukin 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 9:67,498,788...67,502,110
Ensembl chr 9:67,498,813...67,502,096
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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 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL21R
interleukin 21 receptor
ISO
RGD
PMID:19208913
RGD:6892930
NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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IL27
interleukin 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430480
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL2RA
interleukin 2 receptor subunit alpha
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs
CTD RGD
PMID:17676041 PMID:19106270 PMID:19119414 PMID:19701192 PMID:30224649
RGD:2311527 RGD:2311528
NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
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IL2RB
interleukin 2 receptor subunit beta
ameliorates
ISO
RGD
PMID:29367461
RGD:42733039
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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IL4
interleukin 4
ISO
OMIM:222100
MouseDO
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL6
interleukin 6
ISO
ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to
ClinVar OMIM
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 More...
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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INS
insulin
treatment susceptibility
ISO
human gene in a mouse model 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 human protein in a mouse model associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
RGD ClinVar
PMID:11921414 PMID:16113600 PMID:16382177 PMID:17284779 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:20007936 PMID:20133622 PMID:20226046 PMID:20535137 PMID:20938745 PMID:20948967 PMID:21592955 PMID:21765853 PMID:22235272 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:26101329 PMID:26467025 PMID:26641800 PMID:26783749 PMID:28492532 PMID:30414308 PMID:33953728 PMID:34789499 More...
RGD:150340605 RGD:150340606 RGD:150340608 RGD:150340612 RGD:150340615 RGD:150340616
NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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IRAK3
interleukin 1 receptor associated kinase 3
ISO
OMIM:222100
MouseDO
NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
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ISL1
ISL LIM homeobox 1
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:15161765
RGD:2311116
NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907
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ITGA2
integrin subunit alpha 2
ISO
protein:altered expression:thymocyte (mouse)
RGD
PMID:18567821
RGD:2307423
NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
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ITGA4
integrin subunit alpha 4
treatment
ISO
RGD
PMID:7528925
RGD:13593534
NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,240...87,030,364
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ITPR3
inositol 1,4,5-trisphosphate receptor type 3
ISO
OMIM
NCBI chr 7:29,835,922...29,901,305
Ensembl chr 7:29,835,922...29,901,309
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KCNJ11
potassium inwardly rectifying channel subfamily J member 11
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus
ClinVar
PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 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: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 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555
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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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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LGALS3
galectin 3
ISO
RGD
PMID:16600178
RGD:9685204
NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
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LIPC
lipase C, hepatic type
ISO
protein:decreased expression:plasma (human)
RGD
PMID:9580247
RGD:2308845
NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963
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LOC110256000
membrane primary amine oxidase-like
ISO
protein:increased expression:serum
RGD
PMID:12466139
RGD:2313825
NCBI chr12:19,996,324...20,007,006
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LOC110258578
interleukin-1 beta-like
ISO
mRNA:increased expression:peripheral blood, leukocyte (human)
RGD
PMID:1797022 PMID:21848584
RGD:7175335 RGD:7401233
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LTA
lymphotoxin alpha
onset treatment susceptibility
ISO
protein:decreased expression:mononuclear cell DNA:polymorphism: :252A>G (human) DNA:polymorphism: :249A>G (human) DNA:SNP (human)
RGD
PMID:8242903 PMID:9342542 PMID:11141334 PMID:12622777 PMID:17989340 PMID:19120272 More...
RGD:2313253 RGD:2313257 RGD:2313262 RGD:2313263 RGD:2313264 RGD:8548842
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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MADCAM1
mucosal vascular addressin cell adhesion molecule 1
ISO
RGD
PMID:9313747 PMID:17827401
RGD:2311544 RGD:2311545
NCBI chr 2:77,784,610...77,789,036
Ensembl chr 2:77,784,612...77,789,067
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MBD2
methyl-CpG binding domain protein 2
ISO
OMIM:222100
MouseDO
NCBI chr 1:103,683,077...103,768,372
Ensembl chr 1:103,735,192...103,752,402
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MBL2
mannose binding lectin 2
no_association
ISO
RGD
PMID:18361935
RGD:12910829
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MIR126
microRNA mir-126
ISO
RNA:decreased expression:serum
RGD
PMID:27696070
RGD:401850786
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MIR155
microRNA mir-155
susceptibility
ISO
DNA:SNP: :rs767649 (human)
RGD
PMID:28101643
RGD:24922224
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:kidney
RGD
PMID:23632630
RGD:13204760
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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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:8,959...9,162
Ensembl chr MT:8,959...9,162
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MTHFR
methylenetetrahydrofolate reductase
severity
ISO
DNA:transversion:cds:g.1298A>C (human)
RGD
PMID:18774994
RGD:6893652
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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NCAM1
neural cell adhesion molecule 1
onset
ISO
protein:increased expression:pancreatic islet
RGD
PMID:15714132
RGD:2326066
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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NEUROD1
neuronal differentiation 1
no_association
ISO
DNA:polymorphism: :p.A45T (human) DNA:polymorphism:exon
RGD
PMID:15047635 PMID:16357810 PMID:16909454
RGD:2313481 RGD:2313483 RGD:2313487
NCBI chr15:87,175,629...87,179,953
Ensembl chr15:87,175,765...87,179,959
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NOG
noggin
ISO
mRNA, protein:increased expression:aorta
RGD
PMID:21193740
RGD:10430114
NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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NOS1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666113
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:19535454
RGD:2313214
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21666113
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NOTCH4
notch receptor 4
ISO
DNA: SNP: 5' utr: rs2395106
RGD
PMID:19143814
RGD:6480791
NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
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PAX4
paired box 4
susceptibility
ISO
DNA:polymorphism: :p.R133W (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15509590 PMID:15834548
RGD:2311633 RGD:2311634
NCBI chr18:20,675,874...20,680,315
Ensembl chr18:20,673,114...20,680,287
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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 2:103,004,794...103,050,707
Ensembl chr 2:103,004,794...103,050,839
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PDX1
pancreatic and duodenal homeobox 1
ISO
OMIM:222100
RGD MouseDO
PMID:17383157
RGD:2311310
NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,609...5,309,063
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PLAT
plasminogen activator, tissue type
ISO
RGD
PMID:14652638
RGD:2311676
NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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PON1
paraoxonase 1
ISO
protein:decreased expression:serum
RGD
PMID:17949258
RGD:2313270
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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PPARA
peroxisome proliferator activated receptor alpha
ISO
RGD
PMID:19472040
RGD:2313779
NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA:altered expression:heart, brain, mitochondrion (mouse)
RGD
PMID:19542201
RGD:7242046
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PPBP
pro-platelet basic protein
ISO
RGD
PMID:14730686
RGD:1625598
NCBI chr 8:70,021,468...70,022,490
Ensembl chr 8:70,021,439...70,023,964
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PRF1
perforin 1
ISO
OMIM:222100
MouseDO
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
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PRKCQ
protein kinase C theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18978792
NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,458,180...64,600,339
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PRRC2A
proline rich coiled-coil 2A
onset
ISO
DNA:polymorphism
RGD
PMID:10987645 PMID:15842729
RGD:2306963 RGD:2306964
NCBI chr 7:23,742,302...23,755,950
Ensembl chr 7:23,740,144...23,756,066
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PSMB9
proteasome 20S subunit beta 9
ISO
RGD
PMID:11717249
RGD:6483441
NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523
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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 chr10:51,817,697...51,820,147
Ensembl chr10:51,817,924...51,819,960
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PTH
parathyroid hormone
ISO
DNA:snp:exon:g.350C>A rs6256 (human)
RGD
PMID:22777106
RGD:7242744
NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
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PTPN22
protein tyrosine phosphatase non-receptor type 22
onset susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA: snp: cds: C1858T
RGD CTD OMIM
PMID:15004560 PMID:21190368 PMID:21873553 PMID:30224649
RGD:6484524 RGD:6484692
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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PTPRN
protein tyrosine phosphatase receptor type N
ISO
RGD
PMID:7568143 PMID:19741189
RGD:2313289 RGD:729710
NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168
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PTPRN2
protein tyrosine phosphatase receptor type N2
ISO
OMIM:222100
RGD MouseDO
PMID:12419281 PMID:18193190
RGD:2311682 RGD:2311684
NCBI chr18:721,125...1,389,609
Ensembl chr18:721,131...1,389,607
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RAN
RAN, member RAS oncogene family
ISO
human gene in a mouse model
RGD
PMID:22114719
RGD:9835390
NCBI chr14:24,312,810...24,318,024
Ensembl chr14:24,311,577...24,317,789
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RBFOX2
RNA binding fox-1 homolog 2
ISO
mRNA:splice variant: heart (mouse)
RGD
PMID:27239029
RGD:329845874
NCBI chr 5:11,633,523...11,905,325
Ensembl chr 5:11,633,541...11,903,094
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RETN
resistin
ISO
protein:decreased expression:serum
RGD
PMID:15523596
RGD:7207163
NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
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SELE
selectin E
ISO
protein:increased expression:serum
RGD
PMID:18791689
RGD:2313595
NCBI chr 4:81,289,061...81,299,657
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SELL
selectin L
ISO
OMIM:222100
MouseDO
NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
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SENP1
SUMO specific peptidase 1
ISO
OMIM:222100
MouseDO
NCBI chr 5:78,419,849...78,476,315
Ensembl chr 5:78,423,383...78,476,195
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SERPINA7
serpin family A member 7
ISO
protein:decreased expression:serum
RGD
PMID:1867879
RGD:2312330
NCBI chr X:86,708,624...86,714,324
Ensembl chr X:86,708,632...86,714,329
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SERPINF1
serpin family F member 1
ISO
protein:increased expression:serum
RGD
PMID:17971181
RGD:2312345
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
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SH2B3
SH2B adaptor protein 3
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon: (rs3184504) (human) DNA:SNP: : (rs3184504) (human)
CTD RGD
PMID:21829393 PMID:21873553 PMID:30224649
RGD:153297780 RGD:6484692
NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606
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SLA-DRA
MHC class II DR-alpha
ISO
RGD
PMID:11812739
RGD:5490164
NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,054...24,835,158
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SLC11A1
solute carrier family 11 member 1
susceptibility
ISO
DNA:SNP:intron:rs3731865 (human) DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism: :274C>T (human)
RGD CTD
PMID:15877293 PMID:16550170 PMID:16597321 PMID:19768110 PMID:21524304
RGD:5684926 RGD:5684932 RGD:5684950 RGD:5684955
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SLC18A2
solute carrier family 18 member A2
ISO
protein:decreased expression:pancreas (human)
RGD
PMID:16710474 PMID:19223416
RGD:2317333 RGD:5131199
NCBI chr14:127,357,605...127,394,242
Ensembl chr14:127,357,555...127,396,533
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SLC29A3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19336477 PMID:20140240
NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,223,115...74,274,646
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SOD1
superoxide dismutase 1
ISO
DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human)
RGD
PMID:18423055
RGD:2312364
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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SOD2
superoxide dismutase 2
ISO
DNA:polymorphism: :p.A16V (human)
RGD
PMID:18423055
RGD:2312364
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SREBF2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:18682608
RGD:2308812
NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,490...6,784,671
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25038750
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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STAT4
signal transducer and activator of transcription 4
ISO
OMIM:222100
MouseDO
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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TAP1
transporter 1, ATP binding cassette subfamily B member
ISO
DNA:mutation:promoter (mouse) DNA:polymorphisms (human) DNA:insertion:intron (human)
RGD
PMID:9129974 PMID:9300732 PMID:9458110
RGD:2312369 RGD:2312370 RGD:2312371
NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
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TAP2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:1300236 PMID:17192492
RGD:2312368 RGD:2312373
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
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TBP
TATA-box binding protein
no_association susceptibility
ISO
DNA:repeat:cds:g.172(CAG/CAA)38 (human)
RGD
PMID:15381080 PMID:15850778
RGD:5684348 RGD:5684349
NCBI chr 1:5,669...23,675
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TF
transferrin
ISO
RGD
PMID:22861364
RGD:7244379
NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
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TGFB1
transforming growth factor beta 1
ISO
protein:increased expression:urine
RGD
PMID:18979373
RGD:2306737
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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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 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
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THBD
thrombomodulin
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:11738074
RGD:2312458
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:serum
RGD
PMID:17020653
RGD:2312468
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:serum
RGD
PMID:17020653
RGD:2312468
NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834
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TLR2
toll like receptor 2
no_association
ISO
protein:increased expression:monocyte DNA:SNP: :1350T>C (human) DNA:SNP: :rs3804100 (human)
RGD
PMID:15699513 PMID:17130564 PMID:17707128 PMID:18029454 PMID:19148143
RGD:2312679 RGD:2312683 RGD:2312684 RGD:2312686 RGD:2312687
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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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 chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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TLR4
toll like receptor 4
ISO
protein:increased expression:monocyte
RGD
PMID:16728431 PMID:18029454
RGD:2312492 RGD:2312683
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:SNP (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19120272 PMID:23640034
RGD:2313253
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFSF10
TNF superfamily member 10
ISO
RGD
PMID:12882912 PMID:18057577
RGD:2312740 RGD:2312743
NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324
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TNFSF4
TNF superfamily member 4
ISO
OMIM:222100
MouseDO
NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
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TYK2
tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Virus-induced diabetes
ClinVar
PMID:26288847
NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,811...69,183,456
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UCP3
uncoupling protein 3
ISO
RGD
PMID:18678617
RGD:2313502
NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211
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VAV1
vav guanine nucleotide exchange factor 1
ISO
mRNA, protein:increased expression:thymus
RGD
PMID:10433093
RGD:2306005
NCBI chr 2:72,327,433...72,391,649
Ensembl chr 2:72,326,716...72,391,648
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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 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:20309012
RGD:5685388
NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
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VWF
von Willebrand factor
ISO
RGD
PMID:10729383
RGD:13673887
NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452
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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:10679252 PMID:15008830 PMID:15056606
RGD:8694393 RGD:8694396 RGD:8694402
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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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 3:27,158,438...27,492,629
Ensembl chr 3:27,158,878...27,492,762
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YY1
YY1 transcription factor
treatment
ISO
DNA:SNPs:intron
RGD
PMID:15234341 PMID:15619288
RGD:9588271 RGD:9588274
NCBI chr 7:121,132,168...121,170,699
Ensembl chr 7:121,132,191...121,170,697
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IL2RA
interleukin 2 receptor subunit alpha
susceptibility
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 10
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532
NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 12
ClinVar OMIM
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614 More...
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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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 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
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INS
insulin
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
OMIM ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:19952343 PMID:20007936 PMID:20133622 PMID:20226046 PMID:20301620 PMID:20938745 PMID:20948967 PMID:21592955 PMID:22957706 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:26641800 PMID:28492532 PMID:30456822 PMID:32252216 PMID:32792356 PMID:32916194 PMID:33852861 PMID:33953728 PMID:34584998 PMID:34593315 PMID:34789499 More...
NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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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 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963
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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 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
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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
OMIM ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9112026 PMID:9166684 PMID:9313763 PMID:9313764 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10585442 PMID:10754480 PMID:11058894 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:20393147 PMID:21051477 PMID:21224407 PMID:21236713 PMID:21395678 PMID:21628466 PMID:21648289 PMID:21683639 PMID:21823540 PMID:22808921 PMID:23348805 PMID:23551881 PMID:23607861 PMID:23610083 PMID:23674172 PMID:23803251 PMID:24033266 PMID:24069322 PMID:24097065 PMID:25174781 PMID:25555642 PMID:25741868 PMID:25935773 PMID:26110317 PMID:26431509 PMID:26467025 PMID:26479152 PMID:27899486 PMID:28012402 PMID:28170077 PMID:28410371 PMID:28492532 PMID:28862987 PMID:29207974 PMID:29417725 PMID:29439679 PMID:30293189 PMID:30814848 PMID:31166087 PMID:31483937 PMID:31517624 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 chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
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CCR5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Type 1 diabetes mellitus 22
ClinVar OMIM
PMID:25741868
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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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 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
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NEUROD1
neuronal differentiation 1
ISO
OMIM:600321
MouseDO
NCBI chr15:87,175,629...87,179,953
Ensembl chr15:87,175,765...87,179,959
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EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
OMIM ClinVar
PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID: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 More...
NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,943...57,506,245
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.4216T>C (human)
RGD
PMID:9309689
RGD:5490247
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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WFS1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
ClinVar
PMID:1161832 PMID:10521293 PMID: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:24890733 PMID:25133958 PMID:25741868 PMID:26435059 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29207974 PMID:30014265 PMID:30773290 PMID:30957632 PMID:31567480 PMID:32141364 PMID:33763535 PMID:33879153 PMID:34404380 More...
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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WFS1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM ClinVar
PMID:1161832 PMID:3387915 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: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: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:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27434582 PMID:27468121 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28502252 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28993341 PMID:29048421 PMID:29183106 PMID:29207974 PMID:29447883 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32350710 PMID:32382995 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33116287 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34445196 PMID:34556497 PMID:34737607 PMID:34746052 PMID:34789499 PMID:34803393 PMID:34970515 PMID:35206658 PMID:35452662 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 More...
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
G
CISD2
CDGSH iron sulfur domain 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
OMIM ClinVar
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 More...
NCBI chr 8:118,152,580...118,164,695
Ensembl chr 8:118,152,227...118,164,689
G
SLC9B1
solute carrier family 9 member B1
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532
NCBI chr 8:118,052,091...118,134,685
Ensembl chr 8:118,052,500...118,155,396
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all