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: Papulosquamous Skin Diseases
Accession: DOID:9008246
browse the term
Definition: A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions.
Synonyms: exact_synonym: Papulosquamous Disorder; Papulosquamous Disorders; Papulosquamous Skin Disease
primary_id: MESH:D017444
alt_id: RDO:0006291
For additional species annotation, visit the
Alliance of Genome Resources .
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Adam10
ADAM metallopeptidase domain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Krt5
keratin 5
ISO
ClinVar Annotator: match by term: Dowling-Degos disease 1
OMIM ClinVar
PMID:3188604 PMID:14674915 PMID:16465624 PMID:20222933 PMID:25741868
NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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Pofut1
protein O-fucosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786
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Poglut1
protein O-glucosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434
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Pofut1
protein O-fucosyltransferase 1
ISO
ClinVar Annotator: match by term: Dowling-Degos disease 2
OMIM ClinVar
PMID:23684010 PMID:25741868 PMID:28492532 PMID:31566882
NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786
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Poglut1
protein O-glucosyltransferase 1
ISO
ClinVar Annotator: match by term: Dowling-Degos disease 4
OMIM ClinVar
PMID:20664185 PMID:21971768 PMID:24387993 PMID:25741868 PMID:27479915 PMID:28492532 More...
NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434
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Krt1
keratin 1
ISO
OMIM
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18393961
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Cat
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:20372767
RGD:9479158
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
ISO
RGD
PMID:18050371
RGD:8547765
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
RGD
PMID:18050371
RGD:8547765
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Ifng
interferon gamma
ISO
RGD
PMID:3139020
RGD:8157617
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ripk1
receptor interacting serine/threonine kinase 1
ISO
RGD
PMID:20368033
RGD:7777168
NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
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Eln
elastin
ISO
protein:altered expression:vulva:
RGD
PMID:11683283
RGD:9585756
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:7927338
RGD:6909135
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:mouth mucosa:
RGD
PMID:16393252
RGD:9068457
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:16454813
RGD:7483584
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:blood, T cell
RGD
PMID:23490419
RGD:8551821
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
RGD
PMID:16454813
RGD:7483584
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:mucosa:
RGD
PMID:12076323
RGD:8662419
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Dnmt1
DNA methyltransferase 1
ISO
protein:increased expression:mouth mucosa:
RGD
PMID:22236544
RGD:9589075
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
protein:increased expression:mouth mucosa: DNA:polymorphism: :C46359T(human)
RGD
PMID:22236544 PMID:22236544
RGD:9589075 , RGD:9589075
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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Il18
interleukin 18
no_association
ISO
DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human)
RGD
PMID:17854431 PMID:17854431
RGD:8655868 , RGD:8655868
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
treatment
ISO
RGD
PMID:16476030
RGD:7794728
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
RGD
PMID:1666936
RGD:8693327
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Mir155
microRNA 155
ISO
miRNA:increased expression:blood
RGD
PMID:29813046 PMID:29276184
RGD:21081545 , RGD:24922205
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir19a
microRNA 19a
ISO
RGD
PMID:29813046
RGD:21081545
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:22554030
RGD:8656000
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Tlr2
toll-like receptor 2
ISO
protein:increased expression:monocyte,buccal mucosa:
RGD
PMID:21544941
RGD:8553047
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
protein:increased expression:oral epithelium:
RGD
PMID:22672741
RGD:7777153
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
protein:increased expression:oral epithelium:
RGD
PMID:22672741
RGD:7777153
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tp53
tumor protein p53
ISO
DNA:mutations: : protein:increased expression:epithelium
RGD
PMID:12120703 PMID:16393253
RGD:8547838 , RGD:8547841
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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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Card14
caspase recruitment domain family, member 14
ISO
ClinVar Annotator: match by term: Papulosquamous eruptions | ClinVar Annotator: match by term: Pityriasis rubra pilaris
OMIM ClinVar
PMID:8178173 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22421419 PMID:22521418 PMID:22521419 PMID:22703878 PMID:23648549 PMID:24033266 PMID:24999592 PMID:25734815 PMID:25741868 PMID:25989471 PMID:26130407 PMID:26203641 PMID:26358359 PMID:27140437 PMID:28166811 PMID:28230860 PMID:28492532 PMID:28776328 PMID:28887889 PMID:29477734 PMID:29704870 PMID:30248356 PMID:30387497 More...
NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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Ccdc40
coiled-coil domain containing 40
ISO
ClinVar Annotator: match by term: Pityriasis rubra pilaris
ClinVar
PMID:28492532
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Eif4a3
eukaryotic translation initiation factor 4A3
ISO
ClinVar Annotator: match by term: Pityriasis rubra pilaris
ClinVar
PMID:28492532
NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
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Gaa
alpha glucosidase
ISO
ClinVar Annotator: match by term: Pityriasis rubra pilaris
ClinVar
PMID:28492532
NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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Sgsh
N-sulfoglucosamine sulfohydrolase
ISO
ClinVar Annotator: match by term: Pityriasis rubra pilaris
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22521419 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:30248356 More...
NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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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) CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:
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
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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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Ddx58
DEXD/H-box helicase 58
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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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
G
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
G
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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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
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
G
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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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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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 immuity 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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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
ClinVar
PMID:11385576 PMID:11385577 PMID:12019468 PMID:12512038 PMID:12557156 PMID:15024686 PMID:15190267 PMID:15198989 PMID:15571588 PMID:18489434 PMID:19713276 PMID:21548950 PMID:21830272 PMID:25741868 PMID:26070941 PMID:28492532 More...
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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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:23358093 PMID:23428889 PMID:23648549 PMID:23698098 PMID:23792462 PMID:23834760 PMID:23863864 PMID:24033266 PMID:24898045 PMID:24979538 PMID:25212972 PMID:25427108 PMID:25458002 PMID:25468355 PMID:25615897 PMID:25741868 PMID:25989471 PMID:26147717 PMID:26589685 PMID:26676204 PMID:27096382 PMID:27220475 PMID:27388993 PMID:27542682 PMID:27900482 PMID:28063630 PMID:28492532 PMID:28887889 PMID:29030861 PMID:30036598 PMID:30609409 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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Adam10
ADAM metallopeptidase domain 10
ISO
ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura
OMIM ClinVar
PMID:23666529
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Cat
catalase
ISO
protein:increased activity:scalp:
RGD
PMID:24001414
RGD:9479166
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Tlr2
toll-like receptor 2
treatment
ISO
RGD
PMID:21566548
RGD:8553045
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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