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 skin and connective tissue
Accession: DOID:0060039
browse the term
Definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO)
For additional species annotation, visit the
Alliance of Genome Resources .
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Cchcr1
coiled-coil alpha-helical rod protein 1
ISS
OMIM:104000 | OMIM:610753
MouseDO
NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP:3'UTR:rs3087243(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20596022 PMID:23567921
RGD:7411701
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22358057
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22358057
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22358057
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Dnmt1
DNA methyltransferase 1
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Hdac1
histone deacetylase 1
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2
histone deacetylase 2
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac7
histone deacetylase 7
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr 7:128,923,918...128,962,025
Ensembl chr 7:128,923,920...128,962,072
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Ikzf4
IKAROS family zinc finger 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
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Il18
interleukin 18
susceptibility
ISO
DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human)
RGD
PMID:24446726
RGD:8655875
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:8077705
RGD:6909137
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:3261574 PMID:16297194
RGD:8663449 , RGD:8663450
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Kdm1a
lysine demethylase 1A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Kdm4a
lysine demethylase 4A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
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Kdm4b
lysine demethylase 4B
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543
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Kdm4c
lysine demethylase 4C
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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Kdm5a
lysine demethylase 5A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Mx1
MX dynamin like GTPase 1
onset
ISO
DNA:SNP:intron 6:g.9959C>T (human)
RGD
PMID:10942113
RGD:126777672
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Notch4
notch receptor 4
ISO
RGD
PMID:12589427
RGD:6480681
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Prdx5
peroxiredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
severity
ISO
DNA:snp:cds:c.1858C>T (human)
RGD
PMID:16829308
RGD:6484734
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606;
RGD
PMID:16231148
RGD:8547568
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:polymorphism: : HLA-DQB1*0604;
RGD
PMID:16231148
RGD:8547568
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Stx17
syntaxin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:blister, serum (human)
RGD
PMID:21881593
RGD:11087555
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Cfb
complement factor B
ISO
RGD
PMID:17024247
RGD:7421522
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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F2
coagulation factor II
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:1377725
RGD:8547591
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il2
interleukin 2
ISO
RGD
PMID:1973607
RGD:8663461
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:9687525
RGD:8547843
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:7738351
RGD:7421578
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Clu
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:11448121
RGD:8549794
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Ptger3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD
PMID:9683867 PMID:9008223
RGD:7365096 , RGD:7483589
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :DRB1*1101, DRB1*0701(human) DNA:polymorphism: :HLA-DRB1*04(human)
RGD
PMID:9683867 PMID:8052655
RGD:7365096 , RGD:7365103
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tnf
tumor necrosis factor
ISO
protein:increased expression:Conjunctiva:
RGD
PMID:7750940
RGD:7394786
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Eln
elastin
ISO
RGD
PMID:8256113
RGD:9585750
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Lta
lymphotoxin alpha
ISO
DNA:polymorphism
RGD
PMID:7914110
RGD:8548777
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism:promoter
RGD
PMID:7914110
RGD:8548777
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:7738351
RGD:7421578
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Atp2c1
ATPase secretory pathway Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: Familial benign pemphigus CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 PMID:15545997 PMID:16621454 PMID:20338123 PMID:21883398 PMID:25741868 PMID:28492532 More...
NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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Dstyk
dual serine/threonine and tyrosine protein kinase
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:33624863
NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
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RT1-A2
RT1 class Ia, locus A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538176
NCBI chr20:4,870,939...4,910,183
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:74171
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cast
calpastatin
ISO
RGD
PMID:16314468
RGD:5509814
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cat
catalase
ISO
protein:increased activities:skin:
RGD
PMID:22738420
RGD:9479165
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cd36
CD36 molecule
ISO
RGD
PMID:21255096
RGD:5490304
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd40
CD40 molecule
ISO
RGD
PMID:21255096
RGD:5490304
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
ISO
mRNA, protein:increased expression:skin, serum
RGD
PMID:17531537
RGD:8547773
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Il2
interleukin 2
ISO
RGD
PMID:6432916
RGD:8693324
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Mbl2
mannose binding lectin 2
ISO
protein:increased expression:skin:
RGD
PMID:21327568
RGD:8693728
NCBI chr 1:228,016,439...228,024,736
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human)
RGD
PMID:18780165
RGD:5147619
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human)
RGD
PMID:18780165
RGD:5147619
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)
RGD
PMID:9347787 PMID:18780165
RGD:40818304 , RGD:5147619
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Dsg3
desmoglein 3
ISS
OMIM:169610
MouseDO
NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:28197992
RGD:14747041
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
mRNA:decreased expression:epidermis: DNA:polymorphism:cds:p.R16G(human)
RGD
PMID:8763426 PMID:15265530
RGD:8548488 , RGD:8548492
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ager
advanced glycosylation end product-specific receptor
no_association
ISO
DNA:SNP: :2184A>G (human) DNA:polymorphisms: :p.G82S, 1704G>T, 2245A>G (human)
RGD
PMID:12029499 PMID:12029499
RGD:8695975 , RGD:8695975
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Alb
albumin
ISO
RGD
PMID:22607558
RGD:6483512
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
protein:increased expression:keratinocyte
RGD
PMID:8304420
RGD:5509788
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Anxa1
annexin A1
ISO
RGD
PMID:8919037
RGD:7421562
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Ap1s3
adaptor related protein complex 1 subunit sigma 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:80,950,402...81,039,685
Ensembl chr 9:80,950,715...81,009,798
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:SNP: :3937C>T(human) DNA:polymorphism:exon: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16433808 PMID:16433808 PMID:19499236
RGD:7495788 , RGD:7771595
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Areg
amphiregulin
ISO
RGD
PMID:15955087
RGD:1578719
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Arpc4
actin related protein 2/3 complex, subunit 4
ISS
OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106
MouseDO
NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
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Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:haplotype: : rs10516487, rs3733197, rs17266594(human)
RGD
PMID:21989138
RGD:9684977
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
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C2
complement C2
ISO
DNA:polymorphism: :C2*2 (human)
RGD
PMID:6559061
RGD:7411727
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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Cadm2
cell adhesion molecule 2
ISO
RGD
PMID:21864505
RGD:15092073
NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
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Card14
caspase recruitment domain family, member 14
ISO
ClinVar Annotator: match by term: Psoriasis 2, pustular CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:22521418 PMID:22521419 PMID:23143594 PMID:24212883
NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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Carm1
coactivator-associated arginine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143594
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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Cast
calpastatin
ISO
RGD
PMID:15654835
RGD:5509819
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cat
catalase
treatment
ISO
protein:increased activity:serum: CTD Direct Evidence: marker/mechanism protein:decreased activity:liver: protein:decreased activity:skin:
CTD RGD
PMID:12559600 PMID:12602965 PMID:24018880 PMID:12165738
RGD:9479159 , RGD:9479744 , RGD:9479170
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cav1
caveolin 1
ISO
protein:decreased expression:skin
RGD
PMID:12366416
RGD:8661784
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl20
C-C motif chemokine ligand 20
treatment
ISO
mRNA:increased expression:skin
RGD
PMID:10843722 PMID:16081850 PMID:22895364
RGD:7483581 , RGD:7483625 , RGD:7483594
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:skin,monocyte:
RGD
PMID:15370700
RGD:8661734
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:decreased expression:T cell
RGD
PMID:23954573
RGD:8551838
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Ccr6
C-C motif chemokine receptor 6
ISO
mRNA:increased expression:skin
RGD
PMID:10843722 PMID:19662682
RGD:7483581 , RGD:7483598
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:intron: (rs4810485) (human)
RGD
PMID:21645569
RGD:5490300
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:7636313
RGD:8662825
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cfb
complement factor B
no_association
ISO
DNA:polymorphisms
RGD
PMID:6559061 PMID:2609873
RGD:7411727 , RGD:7421520
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfh
complement factor H
severity
ISO
protein:increased expression:plasma
RGD
PMID:2973157
RGD:8662318
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
G
Cfi
complement factor I
severity
ISO
protein:increased expression:plasma
RGD
PMID:2973157
RGD:8662318
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Clu
clusterin
ISO
protein:decreased expression:plasma
RGD
PMID:23522962
RGD:9068388
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Comt
catechol-O-methyltransferase
ISO
RGD
PMID:24001377
RGD:8662328
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12559600
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crp
C-reactive protein
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD RGD
PMID:12559600 PMID:22503884 PMID:22754198
RGD:6482313 , RGD:9495927
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7744320
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csmd1
CUB and Sushi multiple domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953187
NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
ISO
RGD
PMID:10974034
RGD:7411683
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
DNA:SNP, missense mutation:intron, cds: , p.T280M (human)
RGD
PMID:17002687
RGD:9491384
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:missense mutation, SNP:exon, 3' utr:2455A>G, 3801T>C (human)
RGD
PMID:12713578
RGD:5147677
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2s1
cytochrome P450, family 2, subfamily s, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12711469
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
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Dusp1
dual specificity phosphatase 1
ISO
mRNA:decreased expression:skin
RGD
PMID:22924482
RGD:7495852
NCBI chr10:16,680,489...16,683,276
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Eln
elastin
treatment
ISO
RGD
PMID:6893335
RGD:9585764
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:17495954
RGD:10395383
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953187 PMID:20953190 PMID:23291587 PMID:24212883
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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Fabp5
fatty acid binding protein 5
ISO
mRNA:increased expression:skin (human)
RGD
PMID:16283139
RGD:1578463
NCBI chr 2:91,765,056...91,768,716
Ensembl chr 2:91,765,056...91,853,773
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Fbxl19
F-box and leucine-rich repeat protein 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953189
NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
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Fcgr2a
Fc gamma receptor 2A
ISO
mRNA:increased expression:dermal dendritic cell
RGD
PMID:20471070
RGD:5147919
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Flt1
Fms related receptor tyrosine kinase 1
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:20980160
RGD:8552359
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Gba
glucosylceramidase beta
ISO
RGD
PMID:15610510
RGD:5508434
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953187 PMID:24212883
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Gstp1
glutathione S-transferase pi 1
ISO
protein:increased expression:epidermis:
RGD
PMID:21805023
RGD:5491007
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hcar2
hydroxycarboxylic acid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18722346
NCBI chr12:32,726,334...32,727,416
Ensembl chr12:32,726,184...32,728,504
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:serum (human)
RGD
PMID:23517877 PMID:17495954
RGD:8695945 , RGD:10395383
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Icam1
intercellular adhesion molecule 1
treatment severity
ISO
protein:increased expression:serum
RGD
PMID:2015706 PMID:8094011 PMID:16181457
RGD:8158118 , RGD:8547688 , RGD:8547579
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:20953190
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Ifnlr1
interferon, lambda receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953190
NCBI chr 5:147,919,547...147,942,328
Ensembl chr 5:147,919,908...147,942,332
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:21241374
RGD:8549492
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
RGD
PMID:16397523
RGD:7495754
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Il10
interleukin 10
onset
ISO
DNA:SNP:promoter:-1082G>A (human)
RGD
PMID:11298547
RGD:7829824
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19169254 PMID:19169255 PMID:20953190
NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Il13
interleukin 13
no_association susceptibility
ISO
DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: (rs20541) (human)
CTD RGD
PMID:19169254 PMID:20953190 PMID:21349879 PMID:23617596
RGD:8549517 , RGD:8549593
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
mRNA:increased expression:skin
RGD
PMID:14527737
RGD:8549525
NCBI chr X:115,348,860...115,408,682
Ensembl chr X:115,348,860...115,408,681
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Il17a
interleukin 17A
treatment
ISO
mRNA:protein:increased expression:epidermis (human)
RGD
PMID:24286371 PMID:20926833 PMID:21172868 PMID:23359500 PMID:23359500
RGD:8698656 , RGD:9068415 , RGD:9068413 , RGD:8698663 , RGD:8698663
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Psoriasis
ClinVar
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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Il18
interleukin 18
treatment
ISO
protein:increased expression:plasma
RGD
PMID:22291810 PMID:17611614
RGD:8655900 , RGD:8655919
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
CTD Direct Evidence: marker/mechanism
CTD
PMID:7744320
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
disease_progression
ISO
RGD
PMID:2448994
RGD:10047079
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il20
interleukin 20
ISO
associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human)
RGD
PMID:21109726
RGD:5147391
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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Il23a
interleukin 23 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19169254 PMID:20953190 PMID:21348542
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP:cds:p.R381Q(human) ClinVar Annotator: match by term: Psoriasis, protection against CTD Direct Evidence: marker/mechanism DNA:SNP: :rs11805303(human) DNA:SNPs: :rs1884444,rs10889677(human);
ClinVar CTD RGD
PMID:12023369 PMID:17068223 PMID:17447842 PMID:17587057 PMID:17786191 PMID:17804789 PMID:18438406 PMID:19122664 PMID:19169254 PMID:20228799 PMID:20953190 PMID:24212883 PMID:28492532 PMID:17587057 PMID:20978829 PMID:23093364 More...
RGD:8549569 , RGD:8549602 , RGD:8549574
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il25
interleukin 25
ISO
protein:increased expression:arm skin
RGD
PMID:23657503
RGD:39128244
NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
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Il3
interleukin 3
ISO
protein: decreased expression
RGD
PMID:19889595
RGD:5686909
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Il36rn
interleukin 36 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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Il4
interleukin 4
treatment
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19169254 PMID:15039646 PMID:19729876
RGD:7829812 , RGD:7829826
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16844318
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
RGD
PMID:23018031
RGD:7495784
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Itgb2
integrin subunit beta 2
ISO ISS
OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106
MouseDO RGD
PMID:19812597
RGD:6482221
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Kdr
kinase insert domain receptor
treatment
ISO
mRNA:increased expression:skin:
RGD
PMID:23732650 PMID:20071151
RGD:8552361 , RGD:8552376
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Lce3e
late cornified envelope 3E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19169253
NCBI chr 2:178,579,162...178,579,458
Ensembl chr 2:178,579,162...178,579,458
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Lpin2
lipin 2
ISO
ClinVar Annotator: match by term: Psoriasis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP:intron:IVS1 (human)
RGD
PMID:12709814
RGD:8548775
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:23113841
RGD:8693722
NCBI chr 1:228,016,439...228,024,736
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Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10384915 PMID:22499302
RGD:6483515
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:19334527
RGD:8552687
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953190
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953189
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pcna
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10384915
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10815854
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:17581627
RGD:6482263
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association susceptibility onset
ISO
DNA:missense mutation:cds:p.R620W (rs2476601) (human) DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human) DNA:SNP:3' utr: (rs3789604) (human) DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human)
RGD
PMID:18341666 PMID:20039785 PMID:18923449 PMID:18341666
RGD:7829762 , RGD:7829765 , RGD:7829764 , RGD:7829762
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Pttg1
PTTG1 regulator of sister chromatid separation, securin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953187
NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837
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Rel
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953190
NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3540694
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rig1
RNA sensor RIG-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143594
NCBI chr 5:55,321,229...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Rnf114
ring finger protein 114
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953190
NCBI chr 3:156,222,487...156,234,263
Ensembl chr 3:156,222,498...156,234,256
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*0201, HLA-DQA1*0501 (human)
RGD
PMID:15009387
RGD:5147797
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*0201, HLA-DQB1*0303 (human)
RGD
PMID:15009387
RGD:5147797
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Runx3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143594
NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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S100a7a
S100 calcium binding protein A7A
ISS
OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106
MouseDO
NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
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Serpinb8
serpin family B member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953187
NCBI chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835
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Sod2
superoxide dismutase 2
ISO
mRNA:increased expression:skin: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7744320 PMID:7744320
RGD:8547526
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sptlc2
serine palmitoyltransferase, long chain base subunit 2
ISS
OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106
MouseDO
NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23143594 PMID:23594598 PMID:20811392
RGD:8694295 , RGD:8694306
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNP:intron:IVS3 (rs7574865) (human)
RGD
PMID:19500629
RGD:8661715
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tagap
T-cell activation RhoGTPase activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143594
NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
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Tap1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human)
RGD
PMID:11194890
RGD:8548788
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNPs:CDs:p.T665A, Q687Q(human)
RGD
PMID:17581627
RGD:6482263
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7519033
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Tgfb1
transforming growth factor, beta 1
severity
ISO
protein:increased expression:serum
RGD
PMID:15072741
RGD:7394851
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:23457721
RGD:7777173
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:23457721
RGD:7777173
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :-238G>A(rs361525)(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7744320 PMID:16844318 PMID:9326391 PMID:16821276
RGD:7394813 , RGD:7401180
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19169254 PMID:20953190
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfrsf1a
TNF receptor superfamily member 1A
treatment
ISO
RGD
PMID:15998370
RGD:8661740
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19169254 PMID:20953190
NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10384915
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Traf3ip2
Traf3 interacting protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953186 PMID:20953188 PMID:20953190
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Ttc7a
tetratricopeptide repeat domain 7A
ISS
OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106
MouseDO
NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953190
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Vdr
vitamin D receptor
treatment no_association susceptibility
ISO
DNA:silent mutation:cds:pI352 (rs731236) (human) DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human) DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human) DNA:SNPs, haplotype:intron, cds, enhancer:multiple DNA:SNPs:exon:multiple DNA:SNP:promoter:-1012A>G (rs4516035) (human) DNA:silent mutation:cds: (rs731236) (human)
GAD RGD
PMID:15118671 PMID:20716226 PMID:15864137 PMID:21951018 PMID:24055231 PMID:24320988 PMID:24320988 PMID:17763859 More...
RGD:1331525 , RGD:8158081 , RGD:8158072 , RGD:8158062 , RGD:8158056 , RGD:8157635 , RGD:8157635 , RGD:8157633
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
onset disease_progression treatment
ISO
mRNA:increased expression:skin: CTD Direct Evidence: marker/mechanism DNA:polymorphism: :405C>G(human) protein:increased expression:serum:
CTD RGD
PMID:16385345 PMID:8064230 PMID:14962110 PMID:20980160 PMID:19995970
RGD:7421592 , RGD:8552645 , RGD:8552359 , RGD:8549646
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vnn1
vanin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19322213
NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
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Vnn3
vanin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19322213
NCBI chr 1:21,571,364...21,583,626
Ensembl chr 1:21,571,364...21,583,626
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Zc3h12c
zinc finger CCCH type containing 12C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143594
NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
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Zfp141
zinc finger protein 141
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953187 PMID:24212883
NCBI chr 1:93,130,574...93,164,324
Ensembl chr 1:93,130,598...93,163,404
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Rnf114
ring finger protein 114
susceptibility
ISO
OMIM
NCBI chr 3:156,222,487...156,234,263
Ensembl chr 3:156,222,498...156,234,256
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Traf3ip2
Traf3 interacting protein 2
susceptibility
ISO
ClinVar Annotator: match by term: Psoriasis 13, susceptibility to
OMIM ClinVar
PMID:20953186 PMID:20953188 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Ap1s3
adaptor related protein complex 1 subunit sigma 3
susceptibility
ISO
ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to
OMIM ClinVar
PMID:24033266 PMID:24791904 PMID:25741868 PMID:28887889
NCBI chr 9:80,950,402...81,039,685
Ensembl chr 9:80,950,715...81,009,798
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Card14
caspase recruitment domain family, member 14
ISO
ClinVar Annotator: match by term: Psoriasis 2
OMIM ClinVar
PMID:8178173 PMID:15689454 PMID:18256691 PMID:22521418 PMID:22521419 PMID:23648549 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29477734 More...
NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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Sgsh
N-sulfoglucosamine sulfohydrolase
ISO
ClinVar Annotator: match by term: Psoriasis 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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Il23r
interleukin 23 receptor
susceptibility
ISO
OMIM
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:16936328
RGD:5683894
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human)
RGD
PMID:20153665
RGD:8661745
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19732956
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms: :4887C>A, 4889A>G (human)
RGD
PMID:15124938
RGD:5147746
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Fbxl19
F-box and leucine-rich repeat protein 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953189
NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953186
NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Il13
interleukin 13
susceptibility
ISO
DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)
RGD
PMID:21349879 PMID:19554022
RGD:8549517 , RGD:8549552
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
severity treatment
ISO
RGD
PMID:24567524 PMID:23361084
RGD:8698658 , RGD:9068444
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Irak1
interleukin-1 receptor-associated kinase 1
susceptibility
ISO
DNA:SNP:enhancer: (rs3027898) (human)
RGD
PMID:20500689
RGD:7495783
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Lta
lymphotoxin alpha
treatment susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
OMIM CTD ClinVar RGD
PMID:12426569 PMID:12746914 PMID:14681301 PMID:22480318
RGD:8548821
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408446
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:11796404
RGD:7241254
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953189
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19732956
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22751595
RGD:6771221
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: snp: cds: rs2476601 DNA:missense mutation: :R620W (rs2476601) (human)
RGD
PMID:21410964 PMID:15934099
RGD:6484592 , RGD:6484550
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Stat3
signal transducer and activator of transcription 3
no_association
ISO
DNA:SNP: :rs744166 (human) DNA:SNP: :rs2293152 (human)
RGD
PMID:23127549 PMID:23127549
RGD:8694309 , RGD:8694309
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs10181656 (human)
RGD
PMID:22328738
RGD:8661724
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :-238G>A(rs361525)(human) ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:19732956 PMID:22760475 PMID:22992668 PMID:9326391 More...
RGD:7394813
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Traf3ip2
Traf3 interacting protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953186 PMID:20953188
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Il1f10
interleukin 1 family member 10
ISO
ClinVar Annotator: match by term: Generalized pustular psoriasis
ClinVar
PMID:21848462 PMID:28492532
NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439
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Il36rn
interleukin 36 receptor antagonist
ISO
ClinVar Annotator: match by term: Generalized pustular psoriasis
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21839423 PMID:21848462 PMID:22428995 PMID:22903787 PMID:23303454 PMID:23428889 PMID:23648549 PMID:23698098 PMID:23792462 PMID:23863864 PMID:24033266 PMID:24898045 PMID:24979538 PMID:25212972 PMID:25427108 PMID:25458002 PMID:25468355 PMID:25741868 PMID:25989471 PMID:26147717 PMID:26589685 PMID:26676204 PMID:27096382 PMID:27220475 PMID:27388993 PMID:27542682 PMID:28063630 PMID:28492532 PMID:28887889 PMID:29030861 PMID:30036598 PMID:30609409 PMID:30953287 PMID:33729564 More...
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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Lta
lymphotoxin alpha
ISO
DNA:SNP:intron:IVS1 (human)
RGD
PMID:12691703
RGD:8548804
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNPs:promoter:multiple DNA:SNPs, haplotype:5' utr:multiple
RGD
PMID:11019918 PMID:12691703
RGD:8548803 , RGD:8548804
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Bach2
BTB domain and CNC homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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C3
complement C3
ISO
RGD
PMID:12121667
RGD:7401277
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C4a
complement C4A
ISO
associated with Graves Disease
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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Casp7
caspase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 1:255,437,195...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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Cat
catalase
susceptibility no_association
ISO
DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human) protein:decreased activity:skin: DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)
RGD
PMID:20613769 PMID:19439879 PMID:23868633
RGD:9479149 , RGD:9479169 , RGD:9479150
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccr6
C-C motif chemokine receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526340
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cd44
CD44 molecule (Indian blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cd80
Cd80 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Clnk
cytokine-dependent hematopoietic cell linker
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr14:71,923,894...72,101,180
Ensembl chr14:71,873,105...72,101,208
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Clu
clusterin
ISO
RGD
PMID:7558712
RGD:8699503
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Comt
catechol-O-methyltransferase
no_association
ISO
DNA:polymorphism: :p.V158M (human)
RGD
PMID:19112571 PMID:24915010
RGD:8662333 , RGD:8662336
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility no_association
ISO
associated with Autoimmune Diseases;DNA:polymorphisms: : DNA:SNP:exon:+49A>G rs231775)(human) DNA:SNPs:multiple: DNA:SNP:3'UTR:rs3087243(human)
RGD
PMID:15649153 PMID:19129082 PMID:18200060 PMID:21794098
RGD:7411687 , RGD:7411699 , RGD:7411697 , RGD:7411696
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Esr1
estrogen receptor 1
susceptibility no_association
ISO
DNA:SNP:intron DNA:SNP:exon
RGD
PMID:15381239 PMID:15381239
RGD:8552976 , RGD:8552976
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Foxd3
forkhead box D3
susceptibility
ISO
ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16098053
NCBI chr 5:114,334,693...114,337,788
Ensembl chr 5:114,335,408...114,336,817
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Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526340
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Hgf
hepatocyte growth factor
treatment
ISO
RGD
PMID:16117796
RGD:8548598
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hspa1b
heat shock protein family A (Hsp70) member 1B
treatment
ISO
RGD
PMID:23447019
RGD:8662840
NCBI chr20:3,870,765...3,873,221
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
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 onset
ISO
DNA:repeats:intron:rs3138557(human) DNA:polymorphism:intron:rs2430561(human)
RGD
PMID:23777204 PMID:23777204
RGD:8157616 , RGD:8157616
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ikzf4
IKAROS family zinc finger 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
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Il13
interleukin 13
treatment
ISO
RGD
PMID:23680073
RGD:8549591
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
protein:increased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1a
interleukin 1 alpha
ISO
protein:increased expression:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28836394 PMID:16911396
RGD:7794736
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il2
interleukin 2
ISO
protein:increased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
ISO
protein:increased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Itk
IL2-inducible T-cell kinase
ISO
ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1
ClinVar
PMID:28492532 PMID:32628964 PMID:32888943
NCBI chr10:30,753,339...30,814,685
Ensembl chr10:30,753,344...30,814,685
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Vitiligo
ClinVar
PMID:25741868
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Mbl2
mannose binding lectin 2
susceptibility no_association
ISO
DNA:polymorphism:exon: DNA:polymorphisms:promoter, exon:
RGD
PMID:17337399 PMID:19416237
RGD:8693723 , RGD:8693724
NCBI chr 1:228,016,439...228,024,736
G
Mc1r
melanocortin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28836394
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Nlrp1a
NLR family, pyrin domain containing 1A
susceptibility
ISO
ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17377159 PMID:25741868 PMID:28492532
NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28836394
NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:14551602
RGD:1578358
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp : cds: rs2476601 DNA:polymorphism: :1858C>T (p.R620W) (human)
RGD
PMID:16015369 PMID:18426414
RGD:6484552 , RGD:7829737
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:: HLA-DQA1*0302, HLA-DQA1*0601, HLA-DQA1*0501;
RGD
PMID:16409268
RGD:8547566
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 (human) DNA:polymorphism:HLA-DQB1*0201(human)
RGD
PMID:16420246 PMID:9653015
RGD:5147644 , RGD:36174006
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism: : HLA-DRB1*0701(human)
RGD
PMID:16420246 PMID:9653015
RGD:5147644 , RGD:36174006
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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Sla
src-like adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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Sod2
superoxide dismutase 2
disease_progression
ISO
DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human)
RGD
PMID:24036105
RGD:8547522
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tgfb1
transforming growth factor, beta 1
ISO
protein:decreased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:polymorphism:exon:p.R753Q(human)
RGD
PMID:22429552
RGD:7777152
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:22429552
RGD:7777152
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
protein:increased expression:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28836394 PMID:16911396
RGD:7794736
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tob2
transducer of ERBB2, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
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Tyr
tyrosinase
severity
ISO
RGD
PMID:22834951 PMID:8697641
RGD:8694387 , RGD:8694409
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNPs, haplotype: :multiple DNA:SNP:exon:rs2228570 (human) DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)
RGD
PMID:22738935 PMID:22762534 PMID:22762534
RGD:8158061 , RGD:8158066 , RGD:8158066
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Ifng
interferon gamma
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Itgb2
integrin subunit beta 2
ISO
protein:decreased expression:T cell
RGD
PMID:21297967
RGD:6482200
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: : HLA-DQA1*0301
RGD
PMID:11835809
RGD:8547565
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:multiple (human) DNA:snps:promoter:g.-227G>A, g.-189C>A (human)
RGD
PMID:17605936 PMID:19176112
RGD:7421525 , RGD:7421581
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism: :HLA-DRB1*0405(human) DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human) DNA:polymorphisms (human)
RGD
PMID:15603876 PMID:9548078 PMID:20216938 PMID:10527396
RGD:5147653 , RGD:7365099 , RGD:7365067 , RGD:5147857
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human)
RGD
PMID:20438790
RGD:8661713
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tnf
tumor necrosis factor
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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