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.
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Adipoq
adiponectin, C1Q and collagen domain containing
IEP
RGD
PMID:17161219
RGD:1599133
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Anxa1
annexin A1
IEP
RGD
PMID:9022675
RGD:2306952
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Anxa2
annexin A2
IEP
protein:decreased expression:thyroid gland:
RGD
PMID:9022675
RGD:2306952
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Anxa5
annexin A5
IEP
protein:decreased expression:thyroid gland:
RGD
PMID:9022675
RGD:2306952
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Apoa1
apolipoprotein A1
IDA
RGD
PMID:1466661
RGD:1599158
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa2
apolipoprotein A2
IEP
RGD
PMID:1466661
RGD:1599158
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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Apoc3
apolipoprotein C3
IDA
RGD
PMID:8429259
RGD:1599190
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12621104
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Bdh1
3-hydroxybutyrate dehydrogenase 1
IEP
protein:decreased activity:liver, mitochondrion (rat)
RGD
PMID:3422549
RGD:4105460
NCBI chr11:69,302,534...69,343,173
Ensembl chr11:69,302,534...69,337,671
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Cab39
calcium binding protein 39
IEP
mRNA,protein:increased expression:muscle:
RGD
PMID:18669938
RGD:10059691
NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
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Cartpt
CART prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12395121
NCBI chr 2:31,255,098...31,257,452
Ensembl chr 2:31,255,098...31,290,713
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Cat
catalase
IEP ISO
mRNA:decreased expression:liver: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23391542 PMID:19914224
RGD:9068475
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:16756463
RGD:8547761
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
ClinVar Annotator: match by term: Primary hyperthyroidism
ClinVar
PMID:3328816 PMID:21289244 PMID:25741868 PMID:26762354 PMID:26989398 PMID:27038812 PMID:27153395 PMID:28492532 PMID:30990521 More...
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cp
ceruloplasmin
IEP
protein:increased expression:serum
RGD
PMID:18210749
RGD:2314689
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cs
citrate synthase
IDA
RGD
PMID:15817832
RGD:243048477
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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Ctsl
cathepsin L
IEP
mRNA:increased expression:extensor digitorum longus (rat)
RGD
PMID:19777444
RGD:2315547
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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Gpx1
glutathione peroxidase 1
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19914224 PMID:19914224
RGD:9068475
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsr
glutathione-disulfide reductase
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19914224 PMID:25242845
RGD:10401891
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:23623788
RGD:10755742
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Igf1r
insulin-like growth factor 1 receptor
IEP
protein:increased expression:myocardium
RGD
PMID:17447016
RGD:2311524
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Il10
interleukin 10
ISO IEP
associated with Graves Disease
RGD
PMID:21474590 PMID:24534949
RGD:7364857 , RGD:11049472
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Mcm7
minichromosome maintenance complex component 7
IEP
RGD
PMID:17394799
RGD:2317698
NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063
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Mthfr
methylenetetrahydrofolate reductase
IEP
protein:increased activity:liver (rat)
RGD
PMID:7990714
RGD:6893690
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
IEP
RGD
PMID:1315530
RGD:10448989
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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Pcsk1
proprotein convertase subtilisin/kexin type 1
IEP
mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat) protein:decreased expression:paraventricular nucleus, median eminence (rat)
RGD
PMID:15291740 PMID:16497799
RGD:2308889 , RGD:1601276
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14678291
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppargc1a
PPARG coactivator 1 alpha
IEP
protein:increased expression:soleus muscle (rat)
RGD
PMID:18669938
RGD:10059691
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Pth
parathyroid hormone
ISO
ClinVar Annotator: match by term: Primary hyperthyroidism
ClinVar
PMID:1425431 PMID:18784115 PMID:25741868
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human)
RGD
PMID:17194971
RGD:7421571
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Serpina7
serpin family A member 7
IEP
protein:decreased expression:serum (rat)
RGD
PMID:2505856
RGD:1600139
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
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Serpine1
serpin family E member 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:14512089
RGD:8547758
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc34a1
solute carrier family 34 member 1
IEP
protein:increased expression:renal cortex, brush border membrane (rat)
RGD
PMID:10098486
RGD:7243131
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc9a1
solute carrier family 9 member A1
IEP
protein:increased expression:heart, microsome
RGD
PMID:12039959
RGD:625494
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Sod1
superoxide dismutase 1
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19914224 PMID:22476324
RGD:8655984
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19914224
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Stk11
serine/threonine kinase 11
IEP
mRNA,protein:increased expression:muscle:
RGD
PMID:18669938
RGD:10059691
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7800007 PMID:8413627 PMID:8964822
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Ucp3
uncoupling protein 3
IEP
protein:increased expression:skeletal muscle, mitochondrion
RGD
PMID:17012607
RGD:2313535
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
IEP
mRNA:increased expression:hepatocyte
RGD
PMID:14620509
RGD:1600445
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Vim
vimentin
IEP
protein:increased expression, hyperphosphorylation:testis
RGD
PMID:17306450
RGD:6480446
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Cep128
centrosomal protein 128
ISO
ClinVar Annotator: match by term: Familial gestational hyperthyroidism
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial gestational hyperthyroidism
CTD ClinVar
PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 PMID:9329388 PMID:9360555 PMID:9589691 PMID:10560953 PMID:11442002 PMID:12050212 PMID:15693879 PMID:16060907 PMID:16756469 PMID:17526952 PMID:19158199 PMID:19506388 PMID:21490078 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22405933 PMID:22876533 PMID:23329763 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27084275 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:30083029 PMID:30240412 PMID:31356790 More...
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Cat
catalase
treatment
ISO
protein:decreased activity:blood: protein:increased activity:plasma:
RGD
PMID:20394549 PMID:15158621
RGD:9071200 , RGD:9086875
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:18284633
RGD:8549459
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
severity no_association
ISO
associated with Graves Disease; DNA:SNP:promoter:-318C>T (human) protein:increased expression:serum:
RGD
PMID:16893393 PMID:19734241 PMID:22663548
RGD:7421511 , RGD:7421523 , RGD:7421521
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Icam1
intercellular adhesion molecule 1
ISO
DNA:polymorphism: :c.1405A>G (human)
RGD
PMID:14557478
RGD:8158124
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression,increased excretion:orbital tissue:
RGD
PMID:22159761
RGD:8548854
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-819C>T (human) protein:increased expression:serum
RGD
PMID:21067483 PMID:11753760
RGD:7364859 , RGD:7365083
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il18
interleukin 18
treatment
ISO
RGD
PMID:12689659
RGD:8655878
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1rn
interleukin 1 receptor antagonist
severity susceptibility
ISO
protein:increased expression:serum (human) DNA:snp:exon:11100 C>T (rs315952) (human)
RGD
PMID:12186498 PMID:19702713
RGD:7387296 , RGD:8549808
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
RGD
PMID:2786308
RGD:8662939
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il23r
interleukin 23 receptor
no_association susceptibility
ISO
DNA:SNPs: :rs10889677,rs2201841(human) DNA:SNPs: :rs2201841,rs10889677(human)
RGD
PMID:22663548 PMID:18073300
RGD:7421521 , RGD:8549554
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Kif1a
kinesin family member 1A
ISO
RGD
PMID:26451909
RGD:12911230
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:14588098
RGD:8552818
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human)
RGD
PMID:17608818
RGD:7829763
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpine1
serpin family E member 1
severity
ISO
associated with Graves Disease;protein:increased expression:tears (human)
RGD
PMID:22385289
RGD:8547756
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-238G>A (rs361525) (human) DNA:SNP:promoter:-863C>A (human)
RGD
PMID:15219383 PMID:16191343 PMID:8444271
RGD:7365073 , RGD:12904066 , RGD:7794734
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tshr
thyroid stimulating hormone receptor
severity
ISO
DNA:SNP:intron:rs179247 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31705858 PMID:22673349 PMID:20237164
RGD:8548662 , RGD:8548673
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Adipoq
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:increased expression:serum associated with thyroid diseases; protein:increased expression:serum
RGD
PMID:18997483 PMID:20583542
RGD:5686818 , RGD:5686857
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human)
RGD
PMID:17143563
RGD:8548467
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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B3gnt2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr14:96,808,473...96,833,674
Ensembl chr14:96,806,664...96,835,273
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Btnl2
butyrophilin-like 2
onset
ISO
DNA:SNP: :rs17577980(human)
RGD
PMID:24684463
RGD:9685042
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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C4a
complement C4A
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
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C4b
complement C4B
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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Cat
catalase
treatment
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:12919155
RGD:9068908
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 4:157,668,878...157,695,366
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Cd40
CD40 molecule
onset no_association
ISO
DNA:SNP:5' utr:-1C>T (human)
RGD
PMID:12593727 PMID:18755875 PMID:15307939
RGD:8547766 , RGD:8547778 , RGD:8547769
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:8875745
RGD:8547747
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
no_association susceptibility
ISO
DNA:SNP:promoter:-318C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:49G>A(human) DNA:SNP: :rs231779(human) DNA:SNP: :-318C>T(rs11571302)(human) DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human) DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)
CTD RGD
PMID:19731979 PMID:21841780 PMID:23104008 PMID:9861324 PMID:10404810 PMID:20352109 PMID:14986169 PMID:15785242 PMID:12780750 PMID:10369864 PMID:9672157 More...
RGD:2302000 , RGD:11352245 , RGD:7421517 , RGD:7421515 , RGD:7421507 , RGD:7421505 , RGD:1300388 , RGD:2302001
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
associated with Herpesviridae Infections
RGD
PMID:19903800
RGD:5147671
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dnmt1
DNA methyltransferase 1
treatment
ISO
DNA:polymorphism: :32204 G>A(human)
RGD
PMID:23039890
RGD:9588624
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Esr2
estrogen receptor 2
susceptibility no_association
ISO
DNA:snp:intron:IVS8G>A (rs4986938) (human) DNA:repeat
RGD
PMID:17941906 PMID:11180758
RGD:8693348 , RGD:10045850
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:thyroid gland, thyrocyte (human)
RGD
PMID:11422195
RGD:8662820
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fkbp1b
FKBP prolyl isomerase 1B
ISO
RGD
PMID:15497458
RGD:1580387
NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653
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Gc
GC, vitamin D binding protein
susceptibility
ISO
DNA:polymorphism:cds:p.T420K(human) CTD Direct Evidence: marker/mechanism DNA:repeats:intron
CTD RGD
PMID:12050214 PMID:16868893 PMID:12050214
RGD:5509883 , RGD:5509886
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:17980001
RGD:8547807
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Icam1
intercellular adhesion molecule 1
no_association onset
ISO
protein:increased expression:blood, lymphocyte DNA:SNP: :p.K469E (rs5498) (human) DNA:polymorphism: :c.721G>A (human)
RGD
PMID:12357047 PMID:17873320 PMID:14557478
RGD:8158121 , RGD:8547702 , RGD:8158124
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17535987
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Ifng
interferon gamma
susceptibility treatment
ISO
DNA:microsatellite repeats:intron: CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:+874A>T(human) DNA:repeats:intron: protein:increased expression:serum:
CTD RGD
PMID:33132244 PMID:9848715 PMID:15544617 PMID:16970687 PMID:15068623 PMID:2125901 More...
RGD:8142372 , RGD:8157604 , RGD:8157599 , RGD:8142393 , RGD:8142373
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression:thyroid gland:
RGD
PMID:9857239
RGD:8548837
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
ISO
protein: increased expression: blood: T cells and B cells
RGD
PMID:18832736
RGD:5686433
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Il10
interleukin 10
no_association
ISO
DNA:SNP: :rs1800896 (human) DNA:SNPs:promoter:multiple protein:increased expression:serum DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD
PMID:21424183 PMID:15497451 PMID:19250272 PMID:19882211
RGD:7364858 , RGD:7365074 , RGD:7365026 , RGD:7364862
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
disease_progression susceptibility
ISO
DNA:SNP:promoter:-1112C>T (rs1800925) (human) DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)
RGD
PMID:21235536 PMID:15483090
RGD:7829719 , RGD:8549544
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
susceptibility
ISO
DNA:snp:intron:IVS1+18G>A (rs3819025) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:33132244 PMID:22816799
RGD:9068423
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
no_association
ISO
protein:increased expression:serum DNA:SNPs:promoter, exon:multiple
RGD
PMID:12689659 PMID:16571086
RGD:8655878 , RGD:8655916
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
DNA:SNP:promoter:-511C>T (human)
RGD
PMID:16025481 PMID:2674184
RGD:7401177 , RGD:7401207
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
RGD
PMID:2279527
RGD:8662947
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il23r
interleukin 23 receptor
susceptibility no_association
ISO
DNA:SNP: :rs7530511(human) DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)
RGD
PMID:18073300 PMID:19021011
RGD:8549554 , RGD:8549564
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
disease_progression
ISO
DNA:polymorphism:promoter:-572C>G(human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD RGD
PMID:16372246 PMID:21235536 PMID:12818091
RGD:7829719 , RGD:7829750
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
disease_progression
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16372246 PMID:12818091
RGD:7829750
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:23109646
RGD:8693341
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Lta
lymphotoxin alpha
no_association
ISO
DNA:polymorphism
RGD
PMID:1346144 PMID:7928443
RGD:8548778 , RGD:8548790
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T(human)
RGD
PMID:20941748
RGD:7387246
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Ogg1
8-oxoguanine DNA glycosylase
ISO
DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human)
RGD
PMID:21465496
RGD:8657376
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pdcd1
programmed cell death 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: SNP: cds: C1858T CTD Direct Evidence: marker/mechanism DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human) DNA:SNP, haplotype:promoter:-1123G>C (human)
CTD RGD
PMID:21190368 PMID:15504986 PMID:17608818 PMID:18687223
RGD:6484538 , RGD:7829763 , RGD:7829738
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Rnaset2
ribonuclease T2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21841780
NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms::HLA-DQA1*0501;
RGD
PMID:8706297
RGD:8547558
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human) DNA:polymorphism:cds:HLA-DQB1*0602 (human)
RGD
PMID:10468909 PMID:11272094
RGD:7421572 , RGD:7483568
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13
RT1 class I, locus CE13
susceptibility onset
ISO
DNA:polymorphisms:cds:HLA-B*46 (human) DNA:polymorphisms:cds:HLA-B39 (human) DNA:polymorphisms:cds:HLA-B8 (human) DNA:polymorphisms, haplotype:cds:HLA-B8 (human) DNA:polymorphisms, haplotype:cds:HLA-B*5801 (human)
RGD
PMID:23329888 PMID:8894996 PMID:2401095 PMID:8096501 PMID:12694583
RGD:7365094 , RGD:7365110 , RGD:7365118 , RGD:7365112 , RGD:7365098
NCBI chr20:3,314,830...3,318,106
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human) DNA:polymorphism: :HLA-DRB1*0301(human) DNA:polymorphism: :HLA-DRB1*03(human)
RGD
PMID:21307958 PMID:11263477 PMID:15219383
RGD:7365065 , RGD:7365089 , RGD:7365073
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Serpine1
serpin family E member 1
treatment
ISO
protein:increased expression:tears (human)
RGD
PMID:11980614 PMID:22385289
RGD:8547709 , RGD:8547756
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16195404
RGD:7207875
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Stat6
signal transducer and activator of transcription 6
ISO
RGD
PMID:15117875
RGD:7244137
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Tg
thyroglobulin
treatment no_association
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum DNA:SNP:exon DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human) DNA:SNPs:exon:multiple
CTD RGD
PMID:33132244 PMID:14636875 PMID:95586 PMID:17550957 PMID:22662162 PMID:18656705 More...
RGD:8548606 , RGD:8548645 , RGD:8548644 , RGD:8548643 , RGD:8548630
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :-308G>A(rs1800629)(human) DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human) DNA:polymorphism: :-863A>C
RGD
PMID:15219383 PMID:19732761 PMID:17348243
RGD:7365073 , RGD:7394807 , RGD:7394790
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.p.R72P(human)
RGD
PMID:17980001
RGD:8547807
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tpo
thyroid peroxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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Tshb
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Tshr
thyroid stimulating hormone receptor
no_association treatment
ISO
DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human) DNA:polymorphism: :pD727E (human) DNA:SNPs: :multiple DNA:SNPs:intron:rs179247, rs12101255 (human)
CTD RGD
PMID:1955520 PMID:21841780 PMID:21642385 PMID:9528975 PMID:21155717 PMID:24518168 PMID:7828357 PMID:11887032 PMID:23538203 PMID:19244275 PMID:21124799 More...
RGD:8548654 , RGD:8548669 , RGD:8548665 , RGD:8548664 , RGD:8548663 , RGD:8548661 , RGD:8548657 , RGD:8548656 , RGD:8548655
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNPs: :rs731236, rs7975232 (human) DNA:SNPs: :rs1544410, rs10735810 (human) DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs2228570 (human) DNA:SNPs: :rs1544410, rs7975232 (human) DNA:polymorphisms, haplotype
GAD RGD
PMID:15118671 PMID:16279845 PMID:16279845 PMID:17506475 PMID:11134121 PMID:11134121 PMID:16100768 More...
RGD:1331525 , RGD:8158053 , RGD:8158053 , RGD:8157632 , RGD:8157628 , RGD:8157628 , RGD:8157624
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Tshr
thyroid stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning
ClinVar
PMID:7800007 PMID:8413627 PMID:9253356 PMID:9360556 PMID:9398746
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tshb
thyroid stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Thyrotropin deficiency, isolated
ClinVar
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:15297803 PMID:17576681 PMID:22606512 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27362444 PMID:27387040 PMID:28492532 PMID:31166470 PMID:34780050 More...
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Cep128
centrosomal protein 128
ISO
ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune
ClinVar
PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:16060907 PMID:17062880 PMID:17705697 PMID:18727713 PMID:21186955 PMID:21642385 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30372544 PMID:32368696 More...
NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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Tshr
thyroid stimulating hormone receptor
ISO
DNA:missense mutation: :2071A>T (p.I691F) (human) ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1955520 PMID:7124278 PMID:7528344 PMID:7800007 PMID:7920658 PMID:8681963 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9253356 PMID:9329388 PMID:9360555 PMID:9360556 PMID:9385128 PMID:9398746 PMID:9589634 PMID:9589691 PMID:10037069 PMID:10199795 PMID:10560953 PMID:10870027 PMID:11549687 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15876166 PMID:16060907 PMID:16106256 PMID:16756469 PMID:16756474 PMID:17062880 PMID:17524032 PMID:17705697 PMID:17953807 PMID:18379122 PMID:18727713 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21186955 PMID:21490078 PMID:21586576 PMID:21642385 PMID:21707688 PMID:22049173 PMID:22112806 PMID:22359649 PMID:22876533 PMID:23329763 PMID:23356285 PMID:23535966 PMID:24033266 PMID:24728327 PMID:25248169 PMID:25557138 PMID:25741868 PMID:27060741 PMID:27255745 PMID:27578510 PMID:28444304 PMID:28492532 PMID:28561265 PMID:29092890 PMID:30240412 PMID:30372544 PMID:32368696 PMID:18306976 More...
RGD:8548658
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Thrb
thyroid hormone receptor beta
ISO
ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1159077 PMID:1358935 PMID:1400873 PMID:7593433 PMID:7838159 PMID:8013151 PMID:8040303 PMID:8200958 PMID:8381821 PMID:8384535 PMID:8496318 PMID:8514853 PMID:8563471 PMID:8674808 PMID:8889584 PMID:8958790 PMID:9086567 PMID:9140079 PMID:9141558 PMID:10022392 PMID:11518118 PMID:12554782 PMID:15802373 PMID:16464943 PMID:16804041 PMID:20237409 PMID:21703645 PMID:21795843 PMID:21871106 PMID:22551329 PMID:24174637 PMID:25040256 PMID:25502991 PMID:25741868 PMID:26041374 PMID:26467025 PMID:28492532 PMID:30148208 PMID:30430796 PMID:31341516 PMID:32635414 PMID:33353459 PMID:34382419 More...
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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Cacna1s
calcium voltage-gated channel subunit alpha1 S
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1
CTD ClinVar OMIM
PMID:7847370 PMID:7987325 PMID:9066893 PMID:9199552 PMID:9536098 PMID:10590402 PMID:11034874 PMID:11260227 PMID:11808349 PMID:11940049 PMID:12411788 PMID:15001631 PMID:15726306 PMID:17576681 PMID:19822448 PMID:19825159 PMID:20431982 PMID:24195946 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26247046 PMID:26467025 PMID:28008999 PMID:28012042 PMID:28326467 PMID:28492532 PMID:29193480 PMID:30236257 PMID:30325262 PMID:31227654 PMID:33060286 More...
NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
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RT1-CE13
RT1 class I, locus CE13
ISO
protein:increased expression:peripheral blood cell (human)
RGD
PMID:1752149
RGD:8655904
NCBI chr20:3,314,830...3,318,106
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Il10
interleukin 10
IEP
protein:increased expression:plasma
RGD
PMID:19343192
RGD:2311054
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Mt-cyb
mitochondrially encoded cytochrome b
IEP
protein:decreased expression:mitochondrion, brain, kidney, liver
RGD
PMID:6215275
RGD:2298979
NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18941937
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9062474
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all