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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
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Accession:DOID:9008246 term browser 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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Dowling-Degos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Dowling-Degos disease 1
ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura
OMIM
ClinVar
PMID:3188604, PMID:7520042, PMID:8807337, PMID:14674915, PMID:16465624, PMID:20222933, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:148,722,864...148,749,743
Ensembl chr 3:148,722,955...148,747,208
JBrowse link
G Poglut1 protein O-glucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:64,761,493...64,788,210
Ensembl chr11:64,761,146...64,788,208
JBrowse link
Dowling-Degos Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pofut1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 2
ClinVar Annotator: match by OMIM:615327
OMIM
ClinVar
PMID:23684010, PMID:28492532 NCBI chr 3:148,722,864...148,749,743
Ensembl chr 3:148,722,955...148,747,208
JBrowse link
Dowling-Degos Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poglut1 protein O-glucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-degos disease 4
ClinVar Annotator: match by OMIM:615696
OMIM
ClinVar
PMID:20664185, PMID:21971768, PMID:24387993, PMID:27479915, PMID:28492532 NCBI chr11:64,761,493...64,788,210
Ensembl chr11:64,761,146...64,788,208
JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO OMIM NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
lichen disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18393961 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
lichen planus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:decreased activity:erythrocyte: RGD PMID:20372767 RGD:9479158 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ifng interferon gamma ISO RGD PMID:3139020 RGD:8157617 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ripk1 receptor interacting serine/threonine kinase 1 ISO RGD PMID:20368033 RGD:7777168 NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
JBrowse link
Lichen Sclerosus et Atrophicus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO protein:altered expression:vulva: RGD PMID:11683283 RGD:9585756 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:7927338 RGD:6909135 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
Oral Lichen Planus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:mouth mucosa: RGD PMID:16393252 RGD:9068457 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:16454813 RGD:7483584 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:increased expression:blood, T cell RGD PMID:23490419 RGD:8551821 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO RGD PMID:16454813 RGD:7483584 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:mucosa: RGD PMID:12076323 RGD:8662419 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:mouth mucosa: RGD PMID:22236544 RGD:9589075 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G 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 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G 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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha treatment ISO RGD PMID:16476030 RGD:7794728 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1666936 RGD:8693327 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:blood RGD PMID:29813046, PMID:29276184 RGD:21081545, RGD:24922205 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir19a microRNA 19a ISO RGD PMID:29813046 RGD:21081545 NCBI chr15:100,180,162...100,180,243
Ensembl chr15:100,180,162...100,180,243
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:22554030 RGD:8656000 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:monocyte,buccal mucosa: RGD PMID:21544941 RGD:8553047 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:oral epithelium: RGD PMID:22672741 RGD:7777153 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:oral epithelium: RGD PMID:22672741 RGD:7777153 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tp53 tumor protein p53 ISO DNA:mutations: :
protein:increased expression:epithelium
RGD PMID:12120703, PMID:16393253 RGD:8547838, RGD:8547841 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
parapsoriasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100364500 RT1 class I, locus CE11-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16538176 NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
JBrowse link
G RT1-S3 RT1 class Ib, locus S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16538176 NCBI chr20:3,176,124...3,180,825
Ensembl chr20:3,176,107...3,179,818
JBrowse link
pityriasis rubra pilaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by OMIM:173200
ClinVar Annotator: match by term: Pityriasis rubra pilaris
ClinVar Annotator: match by term: Papulosquamous eruptions
OMIM
ClinVar
PMID:8178173, PMID:22421419, PMID:22521418, PMID:22521419, PMID:22703878, PMID:23648549, PMID:24033266, PMID:25734815, PMID:25741868, PMID:25989471, PMID:26130407, PMID:26358359, PMID:27140437, PMID:28230860, PMID:28492532, PMID:28776328, PMID:28887889, PMID:29477734, PMID:30311386, PMID:30387497 NCBI chr10:108,440,480...108,469,012
Ensembl chr10:108,440,950...108,468,310
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:22521419, PMID:28492532 NCBI chr10:108,469,312...108,479,094 JBrowse link
psoriasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G 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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Alb albumin ISO RGD PMID:22607558 RGD:6483512 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:keratinocyte RGD PMID:8304420 RGD:5509788 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Ap1s3 adaptor related protein complex 1 subunit sigma 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:85,386,752...85,445,977
Ensembl chr 9:85,387,065...85,445,939
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP: :3937C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:
CTD PMID:16433808, PMID:16433808, PMID:19499236 RGD:7495788, RGD:7771595 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Areg amphiregulin ISO RGD PMID:15955087 RGD:1578719 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
JBrowse link
G 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 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:haplotype: : rs10516487, rs3733197, rs17266594(human) RGD PMID:21989138 RGD:9684977 NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G C2 complement C2 ISO DNA:polymorphism: :C2*2 (human) RGD PMID:6559061 RGD:7411727 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G Cadm2 cell adhesion molecule 2 ISO RGD PMID:21864505 RGD:15092073 NCBI chr11:4,175,078...4,397,335
Ensembl chr11:4,174,881...4,397,361
JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Psoriasis susceptibility 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22521418, PMID:22521419, PMID:23143594, PMID:24212883 NCBI chr10:108,440,480...108,469,012
Ensembl chr10:108,440,950...108,468,310
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 8:22,577,723...22,622,555
Ensembl chr 8:22,577,715...22,622,560
JBrowse link
G Cast calpastatin ISO RGD PMID:15654835 RGD:5509819 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cat catalase treatment ISO protein:increased activity:serum:
CTD Direct Evidence: marker/mechanism
protein:decreased activity:liver:
protein:decreased activity:skin:
CTD PMID:12559600, PMID:12602965, PMID:24018880, PMID:12165738 RGD:9479159, RGD:9479744, RGD:9479170 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cav1 caveolin 1 ISO protein:decreased expression:skin RGD PMID:12366416 RGD:8661784 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G 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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:T cell RGD PMID:23954573 RGD:8551838 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:10843722, PMID:19662682 RGD:7483581, RGD:7483598 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:intron: (rs4810485) (human) RGD PMID:21645569 RGD:5490300 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:7636313 RGD:8662825 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cfb complement factor B no_association ISO DNA:polymorphisms RGD PMID:6559061, PMID:2609873 RGD:7411727, RGD:7421520 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H severity ISO protein:increased expression:plasma RGD PMID:2973157 RGD:8662318 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfi complement factor I severity ISO protein:increased expression:plasma RGD PMID:2973157 RGD:8662318 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Clu clusterin ISO protein:decreased expression:plasma RGD PMID:23522962 RGD:9068388 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Comt catechol-O-methyltransferase ISO RGD PMID:24001377 RGD:8662328 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12559600 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Crp C-reactive protein treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD PMID:12559600, PMID:22503884, PMID:22754198 RGD:6482313, RGD:9495927 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7744320 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr16:77,152,823...78,850,222
Ensembl chr16:78,539,489...78,850,222
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10974034 RGD:7411683 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G 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 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G 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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12711469 NCBI chr 1:82,595,211...82,610,350
Ensembl chr 1:82,595,211...82,610,350
JBrowse link
G Ddx58 DEXD/H-box helicase 58 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:decreased expression:skin RGD PMID:22924482 RGD:7495852 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Eln elastin treatment ISO RGD PMID:6893335 RGD:9585764 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:17495954 RGD:10395383 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187, PMID:20953190, PMID:23291587, PMID:24212883 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G Fabp5 fatty acid binding protein 5 ISO mRNA:increased expression:skin (human) RGD PMID:16283139 RGD:1578463 NCBI chr 2:93,981,662...93,985,322
Ensembl chr 2:93,981,656...93,985,378
JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr 1:199,196,126...199,217,147
Ensembl chr 1:199,196,059...199,216,391
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO mRNA:increased expression:dermal dendritic cell RGD PMID:20471070 RGD:5147919 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 disease_progression ISO protein:increased expression:serum: RGD PMID:20980160 RGD:8552359 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gba glucosylceramidase beta ISO RGD PMID:15610510 RGD:5508434 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187, PMID:24212883 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:epidermis: RGD PMID:21805023 RGD:5491007 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18722346 NCBI chr12:38,160,464...38,161,546
Ensembl chr12:38,160,464...38,161,546
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:serum (human) RGD PMID:23517877, PMID:17495954 RGD:8695945, RGD:10395383 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G 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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Ifnlr1 interferon, lambda receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 5:154,037,243...154,058,862
Ensembl chr 5:154,037,202...154,058,880
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:skin: RGD PMID:21241374 RGD:8549492 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:16397523 RGD:7495754 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Il10 interleukin 10 onset ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:11298547 RGD:7829824 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254, PMID:19169255, PMID:20953190 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G 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 PMID:19169254, PMID:20953190, PMID:21349879, PMID:23617596 RGD:8549517, RGD:8549593 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:122,724,081...122,783,801
Ensembl chr  X:122,724,129...122,781,479
JBrowse link
G 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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:plasma RGD PMID:22291810, PMID:17611614 RGD:8655900, RGD:8655919 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7744320 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 disease_progression ISO RGD PMID:2448994 RGD:10047079 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il20 interleukin 20 ISO associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human) RGD PMID:21109726 RGD:5147391 NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715
JBrowse link
G Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254, PMID:20953190 NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
JBrowse link
G 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
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:17587057, PMID:20978829, PMID:23093364 RGD:8549569, RGD:8549602, RGD:8549574 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il3 interleukin 3 ISO protein: decreased expression RGD PMID:19889595 RGD:5686909 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:1,385,256...1,392,275
Ensembl chr 3:1,385,654...1,392,275
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:19169254, PMID:15039646, PMID:19729876 RGD:7829812, RGD:7829826 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16844318 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO RGD PMID:23018031 RGD:7495784 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G 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 PMID:19812597 RGD:6482221 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Kdr kinase insert domain receptor treatment ISO mRNA:increased expression:skin: RGD PMID:23732650, PMID:20071151 RGD:8552361, RGD:8552376 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Lce3e late cornified envelope 3E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169253 NCBI chr 2:193,275,472...193,276,006
Ensembl chr 2:193,275,507...193,275,803
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron:IVS1 (human) RGD PMID:12709814 RGD:8548775 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:23113841 RGD:8693722 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10384915, PMID:22499302 RGD:6483515 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mydgf myeloid-derived growth factor ISO protein:increased expression:skin (human) RGD PMID:23657503 RGD:39128244 NCBI chr 9:10,885,521...10,892,744
Ensembl chr 9:10,885,560...10,892,405
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19334527 RGD:8552687 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:10384915 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:10815854 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:17581627 RGD:6482263 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G 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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr10:29,014,332...29,026,088
Ensembl chr10:29,020,049...29,026,002
JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr14:108,490,794...108,517,582
Ensembl chr14:108,491,069...108,509,892
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3540694 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rnf114 ring finger protein 114 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 3:164,248,736...164,260,499
Ensembl chr 3:164,248,731...164,260,497
JBrowse link
G 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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G 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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Psoriasis ClinVar PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G 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 2:190,058,093...190,063,132
Ensembl chr 2:190,058,093...190,062,534
JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006
JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:increased expression:skin:
CTD Direct Evidence: marker/mechanism
CTD PMID:7744320, PMID:7744320 RGD:8547526 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G 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 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594, PMID:23594598, PMID:20811392 RGD:8694295, RGD:8694306 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron:IVS3 (rs7574865) (human) RGD PMID:19500629 RGD:8661715 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 1:47,493,990...47,503,492
Ensembl chr 1:47,493,994...47,502,952
JBrowse link
G 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 chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs:CDs:p.T665A, Q687Q(human) RGD PMID:17581627 RGD:6482263 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7519033 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO protein:increased expression:serum RGD PMID:15072741 RGD:7394851 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:23457721 RGD:7777173 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:mononuclear cell: RGD PMID:23457721 RGD:7777173 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-238G>A(rs361525)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:7744320, PMID:16844318, PMID:9326391, PMID:16821276 RGD:7394813, RGD:7401180 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254, PMID:20953190 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:15998370 RGD:8661740 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254, PMID:20953190 NCBI chr10:40,255,776...40,303,092
Ensembl chr10:40,255,776...40,296,470
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10384915 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186, PMID:20953188, PMID:20953190 NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
JBrowse link
G 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 6:10,912,383...11,014,279
Ensembl chr 6:10,912,383...11,014,278
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
G 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 RGD:1331525, RGD:8158081, RGD:8158072, RGD:8158062, RGD:8158056, RGD:8157635, RGD:8157635, RGD:8157633 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G 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 PMID:16385345, PMID:8064230, PMID:14962110, PMID:20980160, PMID:19995970 RGD:7421592, RGD:8552645, RGD:8552359, RGD:8549646 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:22,614,832...22,625,134
Ensembl chr 1:22,614,783...22,625,204
JBrowse link
G Vnn3 vanin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:22,649,114...22,661,376
Ensembl chr 1:22,649,081...22,661,377
JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 8:56,639,439...56,696,968
Ensembl chr 8:56,641,808...56,696,968
JBrowse link
G Zfp141 zinc finger protein 141 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187, PMID:24212883 NCBI chr 1:98,168,457...98,201,189 JBrowse link
psoriasis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf114 ring finger protein 114 susceptibility ISO OMIM NCBI chr 3:164,248,736...164,260,499
Ensembl chr 3:164,248,731...164,260,497
JBrowse link
psoriasis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip2 Traf3 interacting protein 2 susceptibility ISO ClinVar Annotator: match by term: Psoriasis susceptibility 13 ClinVar
OMIM
PMID:20953186, PMID:20953188, PMID:22581863, PMID:24033266, PMID:24120361 NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
JBrowse link
psoriasis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s3 adaptor related protein complex 1 subunit sigma 3 susceptibility ISO ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to ClinVar
OMIM
PMID:24033266, PMID:24791904 NCBI chr 9:85,386,752...85,445,977
Ensembl chr 9:85,387,065...85,445,939
JBrowse link
psoriasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Psoriasis susceptibility 2 OMIM
ClinVar
PMID:8178173, PMID:15689454, PMID:18256691, PMID:22521418, PMID:22521419, PMID:23648549, PMID:29477734 NCBI chr10:108,440,480...108,469,012
Ensembl chr10:108,440,950...108,468,310
JBrowse link
psoriasis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23r interleukin 23 receptor susceptibility ISO OMIM NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
psoriatic arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:16936328 RGD:5683894 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) RGD PMID:20153665 RGD:8661745
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G 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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr 1:199,196,126...199,217,147
Ensembl chr 1:199,196,059...199,216,391
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G 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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A severity
treatment
ISO RGD PMID:24567524, PMID:23361084 RGD:8698658, RGD:9068444 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G Lta lymphotoxin alpha treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:607507
OMIM
CTD
ClinVar
PMID:12426569, PMID:12746914, PMID:14681301, PMID:22480318 RGD:8548821 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408446 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22751595 RGD:6771221 NCBI chr10:94,850,971...94,913,202 JBrowse link
G 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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G 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 chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs10181656 (human) RGD PMID:22328738 RGD:8661724 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-238G>A(rs361525)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
CTD
ClinVar
PMID:8056188, PMID:9818939, PMID:10450718, PMID:11261930, PMID:11506397, PMID:11826025, PMID:11896460, PMID:12485196, PMID:12746914, PMID:14681301, PMID:14718719, PMID:16418737, PMID:16865291, PMID:19732956, PMID:9326391 RGD:7394813 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186, PMID:20953188 NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
JBrowse link
pustular psoriasis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Pustular psoriasis, generalized ClinVar PMID:21848462, PMID:28492532 NCBI chr 3:1,408,560...1,416,601
Ensembl chr 3:1,413,671...1,416,599
JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Pustular psoriasis, generalized OMIM
ClinVar
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:28063630, PMID:28492532, PMID:28887889, PMID:30036598 NCBI chr 3:1,385,256...1,392,275
Ensembl chr 3:1,385,654...1,392,275
JBrowse link
pustulosis of palm and sole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lta lymphotoxin alpha ISO DNA:SNP:intron:IVS1 (human) RGD PMID:12691703 RGD:8548804 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G 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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
reticulate acropigmentation of Kitamura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by OMIM:615537 OMIM
ClinVar
PMID:23666529 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
seborrheic dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:increased activity:scalp: RGD PMID:24001414 RGD:9479166 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:21566548 RGD:8553045 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        Papulosquamous Skin Diseases 149
          Dowling-Degos disease + 4
          Familial Dyskeratotic Comedones 0
          Granulosis Rubra Nasi 0
          Pityriasis + 2
          dermatosis papulosa nigra 0
          lichen disease + 25
          parapsoriasis + 2
          psoriasis + 132
          seborrheic dermatitis + 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Papulosquamous Skin Diseases 149
              Dowling-Degos disease + 4
              Familial Dyskeratotic Comedones 0
              Granulosis Rubra Nasi 0
              Pityriasis + 2
              dermatosis papulosa nigra 0
              lichen disease + 25
              parapsoriasis + 2
              psoriasis + 132
              seborrheic dermatitis + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.