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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:autoimmune disease of skin and connective tissue
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Accession:DOID:0060039 term browser browse the term
Definition:An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO)


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alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISS OMIM:104000 | OMIM:610753 MouseDO NCBI chr20:3,210,383...3,223,187 JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr 9:69,812,859...69,819,959 JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,989,066...15,991,263 JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:16,007,166...16,012,077 JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:70,884,293...70,886,944 JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 8:27,716,797...27,763,405 JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:3,924,263...3,941,238 JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:147,138,328...147,165,387 JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:42,101,815...42,126,486 JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:130,803,013...130,841,181 JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 7:1,643,379...1,687,524 JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 8:59,802,072...59,829,275 JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8077705 RGD:6909137 NCBI chr 3:27,509,836...27,525,738 JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr17:71,759,802...71,808,475 JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:154,066,436...154,121,913 JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:136,958,178...137,004,942 JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 9:1,245,885...1,324,384 JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:93,146,404...93,353,040 JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 4:155,238,124...155,316,121 JBrowse link
G Mx1 MX dynamin like GTPase 1 onset ISO DNA:SNP:intron 6:g.9959C>T (human) RGD PMID:10942113 RGD:126777672 NCBI chr11:50,269,056...50,294,699 JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr20:4,164,969...4,189,072 JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:213,529,042...213,532,787 JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 severity ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16829308 RGD:6484734 NCBI chr 2:194,055,165...194,103,209 JBrowse link
G Raet1l retinoic acid early transcript 1L ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:3,799,823...3,804,799 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,577,057...4,581,650 JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,598,475...4,604,118 JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:67,241,673...67,302,228 JBrowse link
bullous pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:blister, serum (human) RGD PMID:21881593 RGD:11087555 NCBI chr12:26,745,972...26,750,924 JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr20:3,975,271...3,981,138 JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:98,051,958...98,065,246 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 8:27,829,688...27,841,618 JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr 3:174,103,474...174,111,434 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:22,452,854...22,468,194 JBrowse link
cicatricial pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:44,336,619...44,375,861 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:27,509,836...27,525,738 JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:249,264,985...249,409,966 JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)		 RGD PMID:9683867 PMID:9008223 RGD:7365096, RGD:7483589 NCBI chr20:4,598,475...4,604,118 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*1101, DRB1*0701(human)
DNA:polymorphism: :HLA-DRB1*04(human) 		RGD PMID:9683867 PMID:8052655 RGD:7365096, RGD:7365103 NCBI chr20:4,550,594...4,560,182 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:3,626,685...3,629,303 JBrowse link
dermatitis herpetiformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:8256113 RGD:9585750 NCBI chr12:27,604,983...27,648,413 JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr20:3,622,291...3,625,852 JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:22,452,854...22,468,194 JBrowse link
Hailey-Hailey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 More... NCBI chr 8:114,913,551...115,034,706 JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chr13:46,409,412...46,457,426 JBrowse link
parapsoriasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-A2 RT1 class Ia, locus A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16538176 NCBI chr20:4,872,720...4,876,425 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16538176 NCBI chr20:3,261,656...3,265,548 JBrowse link
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr 9:2,174,412...2,201,339 JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 2:5,707,633...5,817,213 JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,577,057...4,581,650 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,598,475...4,604,118 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)		 RGD PMID:9347787 PMID:18780165 RGD:40818304, RGD:5147619 NCBI chr20:4,550,594...4,560,182 JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISS OMIM:169610 MouseDO NCBI chr18:12,074,321...12,105,954 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:28197992 RGD:14747041 NCBI chr20:4,598,475...4,604,118 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 chr18:57,912,760...57,914,802 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 chr20:4,152,758...4,155,956 JBrowse link
G Alb albumin ISO RGD PMID:22607558 RGD:6483512 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:keratinocyte RGD PMID:8304420 RGD:5509788 NCBI chr10:55,456,923...55,469,239 JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:227,287,713...227,306,739 JBrowse link
G Ap1s3 adaptor related protein complex 1 subunit sigma 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:88,399,109...88,458,396 JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP: :3937C>T(human)
DNA:polymorphism:exon:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16433808 PMID:16433808 PMID:19499236 RGD:7495788, RGD:7771595 NCBI chr 1:88,481,889...88,485,816 JBrowse link
G Areg amphiregulin ISO RGD PMID:15955087 RGD:1578719 NCBI chr14:17,256,384...17,265,641 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 4:148,077,799...148,088,427 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 2:227,203,998...227,474,008 JBrowse link
G C2 complement C2 ISO DNA:polymorphism: :C2*2 (human) RGD PMID:6559061 RGD:7411727 NCBI chr20:3,944,722...3,975,006 JBrowse link
G Cadm2 cell adhesion molecule 2 ISO RGD PMID:21864505 RGD:15092073 NCBI chr11:17,994,856...18,971,895 JBrowse link
G 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 chr10:105,064,941...105,100,132 JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 8:28,373,370...28,418,056 JBrowse link
G Cast calpastatin ISO RGD PMID:15654835 RGD:5509819 NCBI chr 2:5,707,633...5,817,213 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
RGD		 PMID:12559600 PMID:12602965 PMID:24018880 PMID:12165738 RGD:9479159, RGD:9479744, RGD:9479170 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Cav1 caveolin 1 ISO protein:decreased expression:skin RGD PMID:12366416 RGD:8661784 NCBI chr 4:46,606,538...46,639,616 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 9:91,837,139...91,839,736 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734 NCBI chr 8:132,611,883...132,619,106 JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:T cell RGD PMID:23954573 RGD:8551838 NCBI chr 8:132,629,097...132,660,980 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 1:55,022,037...55,055,857 JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:intron: (rs4810485) (human) RGD PMID:21645569 RGD:5490300 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:7636313 RGD:8662825 NCBI chr20:7,150,820...7,161,373 JBrowse link
G Cfb complement factor B no_association ISO DNA:polymorphisms RGD PMID:6559061 PMID:2609873 RGD:7411727, RGD:7421520 NCBI chr20:3,975,271...3,981,138 JBrowse link
G Cfh complement factor H severity ISO protein:increased expression:plasma RGD PMID:2973157 RGD:8662318 NCBI chr13:54,063,079...54,164,523 JBrowse link
G Cfi complement factor I severity ISO protein:increased expression:plasma RGD PMID:2973157 RGD:8662318 NCBI chr 2:221,062,206...221,104,790 JBrowse link
G Clu clusterin ISO protein:decreased expression:plasma RGD PMID:23522962 RGD:9068388 NCBI chr15:44,336,619...44,375,861 JBrowse link
G Comt catechol-O-methyltransferase ISO RGD PMID:24001377 RGD:8662328 NCBI chr11:96,072,371...96,091,956 JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12559600 NCBI chr 2:104,368,336...104,427,119 JBrowse link
G 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 chr13:87,694,062...87,695,978 JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7744320 NCBI chr10:38,887,692...38,889,673 JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr16:78,920,549...80,520,710 JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10974034 RGD:7411683 NCBI chr 9:69,812,859...69,819,959 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 8:128,661,294...128,679,048 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 8:66,991,940...66,998,014 JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12711469 NCBI chr 1:90,437,741...90,453,073 JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:decreased expression:skin RGD PMID:22924482 RGD:7495852 NCBI chr10:17,184,853...17,187,646 JBrowse link
G Eln elastin treatment ISO RGD PMID:6893335 RGD:9585764 NCBI chr12:27,604,983...27,648,413 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:17495954 RGD:10395383 NCBI chr 6:13,543,252...13,626,147 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 2:5,666,337...5,705,256 JBrowse link
G Fabp5 fatty acid binding protein 5 ISO mRNA:increased expression:skin (human) RGD PMID:16283139 RGD:1578463 NCBI chr 2:93,672,451...93,676,186 JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr 1:191,786,981...191,811,314 JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO mRNA:increased expression:dermal dendritic cell RGD PMID:20471070 RGD:5147919 NCBI chr13:85,813,516...85,830,269 JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 disease_progression ISO protein:increased expression:serum: RGD PMID:20980160 RGD:8552359 NCBI chr12:12,333,050...12,504,750 JBrowse link
G Gba1 glucosylceramidase beta 1 ISO RGD PMID:15610510 RGD:5508434 NCBI chr 2:176,902,141...176,916,015 JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 PMID:24212883 NCBI chr15:35,375,977...35,393,817 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:epidermis: RGD PMID:21805023 RGD:5491007 NCBI chr 1:210,767,237...210,770,242 JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18722346 NCBI chr12:38,387,163...38,389,149 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 6:98,357,788...98,405,068 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 8:27,829,688...27,841,618 JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 3:67,635,924...67,683,968 JBrowse link
G Ifnlr1 interferon, lambda receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 5:153,203,597...153,225,911 JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:skin: RGD PMID:21241374 RGD:8549492 NCBI chr 7:24,169,608...24,249,446 JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:16397523 RGD:7495754 NCBI chr16:76,021,968...76,075,717 JBrowse link
G Il10 interleukin 10 onset ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:11298547 RGD:7829824 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:19169255 PMID:20953190 NCBI chr10:29,390,300...29,405,194 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
RGD		 PMID:19169254 PMID:20953190 PMID:21349879 PMID:23617596 RGD:8549517, RGD:8549593 NCBI chr10:38,290,926...38,293,483 JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:120,213,670...120,294,777 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 9:30,640,844...30,644,331 JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Psoriasis ClinVar NCBI chr 4:155,339,742...155,362,382 JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:plasma RGD PMID:22291810 PMID:17611614 RGD:8655900, RGD:8655919 NCBI chr 8:59,802,072...59,829,275 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7744320 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Il2 interleukin 2 disease_progression ISO RGD PMID:2448994 RGD:10047079 NCBI chr 2:121,932,968...121,937,672 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 chr13:44,933,249...44,936,893 JBrowse link
G Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:20953190 PMID:21348542 NCBI chr 7:1,306,320...1,308,434 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
RGD		 PMID:12023369 PMID:17068223 PMID:17447842 PMID:17587057 PMID:17786191 More... RGD:8549569, RGD:8549602, RGD:8549574 NCBI chr 4:97,910,230...98,003,759 JBrowse link
G Il25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr15:32,378,750...32,382,141 JBrowse link
G Il3 interleukin 3 ISO protein: decreased expression RGD PMID:19889595 RGD:5686909 NCBI chr10:38,906,460...38,908,810 JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:27,442,679...27,449,306 JBrowse link
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 chr10:38,272,003...38,277,549 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16844318 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO RGD PMID:23018031 RGD:7495784 NCBI chr  X:156,919,927...156,929,825 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
RGD		 PMID:19812597 RGD:6482221 NCBI chr20:11,061,009...11,097,242 JBrowse link
G Kdr kinase insert domain receptor treatment ISO mRNA:increased expression:skin: RGD PMID:23732650 PMID:20071151 RGD:8552361, RGD:8552376 NCBI chr14:32,572,031...32,615,204 JBrowse link
G Lce3e late cornified envelope 3E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169253 NCBI chr 2:181,274,092...181,275,265 JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Psoriasis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:118,529,988...118,604,796 JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron:IVS1 (human) RGD PMID:12709814 RGD:8548775 NCBI chr20:3,622,291...3,625,852 JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:23113841 RGD:8693722 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10384915 PMID:22499302 RGD:6483515 NCBI chr 1:199,926,150...199,952,847 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO protein:increased expression:blood serum (human) RGD PMID:22151390 RGD:329845865 NCBI chr 6:55,152,756...55,189,547 JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19334527 RGD:8552687 NCBI chr16:26,974,874...27,005,191 JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 6:78,593,844...78,597,307 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr10:64,313,335...64,349,221 JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:10384915 NCBI chr 3:139,951,948...139,955,820 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:10815854 NCBI chr 4:150,095,743...150,221,104 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:17581627 RGD:6482263 NCBI chr20:4,668,952...4,674,421 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 2:194,055,165...194,103,209 JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr10:28,394,940...28,406,410 JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:decreased expression:blood serum (human) RGD PMID:22151390 RGD:329845865 NCBI chr 1:245,306,349...245,313,551 JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr14:101,891,238...101,922,324 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3540694 NCBI chr13:47,348,312...47,359,539 JBrowse link
G Rig1 RNA sensor RIG-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 5:60,117,398...60,165,995 JBrowse link
G Rnf114 ring finger protein 114 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 3:176,641,456...176,653,262 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 chr20:4,577,057...4,581,650 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 chr20:4,598,475...4,604,118 JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 5:152,644,270...152,702,835 JBrowse link
G S100a7a S100 calcium binding protein A7A ISS MouseDO NCBI chr 2:178,448,983...178,453,424 JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr13:24,141,557...24,164,894 JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:increased expression:skin:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7744320 PMID:7744320 RGD:8547526 NCBI chr 1:50,043,323...50,050,168 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 6:112,679,623...112,762,470 JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO
ISS		 CTD Direct Evidence: marker/mechanism MouseDO
CTD
RGD		 PMID:23143594 PMID:23594598 PMID:20811392 RGD:8694295, RGD:8694306 NCBI chr10:86,311,528...86,363,513 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 9:56,964,617...57,080,523 JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 1:49,575,750...49,584,747 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 chr20:4,658,171...4,668,543 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 chr20:4,638,257...4,652,296 JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7519033 NCBI chr 4:120,175,549...120,258,342 JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO protein:increased expression:serum RGD PMID:15072741 RGD:7394851 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:23457721 RGD:7777173 NCBI chr 2:171,499,189...171,504,831 JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:mononuclear cell: RGD PMID:23457721 RGD:7777173 NCBI chr 5:85,161,247...85,174,882 JBrowse link
G 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 chr20:3,626,685...3,629,303 JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:20953190 NCBI chr 1:15,528,921...15,543,993 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:15998370 RGD:8661740 NCBI chr 4:159,837,119...159,849,817 JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:20953190 NCBI chr10:39,537,759...39,585,038 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10384915 NCBI chr10:54,798,871...54,810,300 JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 PMID:20953190 NCBI chr20:44,565,992...44,609,240 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 6:12,912,822...13,015,374 JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 8:27,918,054...27,943,319 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 More... RGD:1331525, RGD:8158081, RGD:8158072, RGD:8158062, RGD:8158056, RGD:8157635, RGD:8157635, RGD:8157633 NCBI chr 7:130,864,764...130,916,757 JBrowse link
G Vegfa vascular endothelial growth factor A onset
disease_progression
treatment		 ISO
ISS		 mRNA:increased expression:skin:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :405C>G(human)
protein:increased expression:serum:		 MouseDO
CTD
RGD		 PMID:16385345 PMID:8064230 PMID:14962110 PMID:20980160 PMID:19995970 RGD:7421592, RGD:8552645, RGD:8552359, RGD:8549646 NCBI chr 9:22,452,854...22,468,194 JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:23,356,324...23,366,629 JBrowse link
G Vnn3 vanin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:23,390,596...23,402,858 JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 8:61,340,446...61,404,932 JBrowse link
G Zfp141 zinc finger protein 141 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 PMID:24212883 NCBI chr 1:102,267,194...102,300,911 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 ISO ClinVar Annotator: match by term: Psoriasis 13, susceptibility to ClinVar
OMIM		 PMID:20953186 PMID:20953188 PMID:22581863 PMID:24033266 PMID:24120361 More... NCBI chr20:44,565,992...44,609,240 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: AP1S3-related condition | ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to OMIM
ClinVar		 PMID:24033266 PMID:24791904 PMID:25741868 PMID:28887889 NCBI chr 9:88,399,109...88,458,396 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
ISS		 ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2
OMIM:602723		 OMIM
ClinVar
MouseDO		 PMID:8178173 PMID:9536098 PMID:15689454 PMID:17576681 PMID:18256691 More... NCBI chr10:105,064,941...105,100,132 JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2 ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr10:105,095,336...105,112,037 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 ISO ClinVar Annotator: match by term: IL23R-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:97,910,230...98,003,759 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 chr15:22,098,191...22,113,145 JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:16936328 RGD:5683894 NCBI chr10:68,963,893...68,965,728 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 NCBI chr 8:132,611,883...132,619,106 JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr10:54,880,562...54,882,441 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 8:66,991,940...66,998,014 JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr 1:191,786,981...191,811,314 JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr10:29,390,300...29,405,194 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 chr10:38,290,926...38,293,483 JBrowse link
G Il17a interleukin 17A severity
treatment		 ISO RGD PMID:24567524 PMID:23361084 RGD:8698658, RGD:9068444 NCBI chr 9:30,640,844...30,644,331 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:156,919,927...156,929,825 JBrowse link
G 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 chr20:3,622,291...3,625,852 JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408446 NCBI chr10:12,288,514...12,303,337 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:12,943,453...12,963,966 JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:12,925,267...12,938,828 JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to ClinVar PMID:11385576 PMID:25741868 PMID:28492532 NCBI chr19:34,555,832...34,596,281 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr10:64,313,335...64,349,221 JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr 3:62,098,739...62,115,926 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22751595 RGD:6771221 NCBI chr10:92,090,263...92,152,002 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 2:194,055,165...194,103,209 JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:23,661,278...23,990,248 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 chr10:86,311,528...86,363,513 JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs10181656 (human) RGD PMID:22328738 RGD:8661724 NCBI chr 9:56,964,617...57,080,523 JBrowse link
G 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 More... RGD:7394813 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 NCBI chr20:44,565,992...44,609,240 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: Generalized pustular psoriasis ClinVar PMID:19494218 PMID:21792839 PMID:21848462 PMID:22940634 PMID:23698098 More... NCBI chr 3:27,470,798...27,473,726 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Generalized pustular psoriasis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:27,509,836...27,525,738 JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: IL36RN-related condition | ClinVar Annotator: match by term: Psoriasis 14, pustular OMIM
ClinVar		 PMID:6147717 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494218 More... NCBI chr 3:27,442,679...27,449,306 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 chr20:3,622,291...3,625,852 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 chr20:3,626,685...3,629,303 JBrowse link
vitiligo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 5:51,428,802...51,779,030 JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chr 9:2,174,412...2,201,339 JBrowse link
G C4a complement C4A ISO associated with Graves Disease RGD PMID:21943165 RGD:5688264 NCBI chr20:4,010,306...4,024,707 JBrowse link
G Casp7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 1:265,442,647...265,481,938 JBrowse link
G Cat catalase susceptibility
no_association		 ISO DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)
protein:decreased activity:skin:
DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human) 		RGD PMID:20613769 PMID:19439879 PMID:23868633 RGD:9479149, RGD:9479169, RGD:9479150 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 1:55,022,037...55,055,857 JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:109,610,824...109,699,776 JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr11:75,760,073...75,798,978 JBrowse link
G Clnk cytokine-dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr14:76,136,446...76,315,364 JBrowse link
G Clu clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chr15:44,336,619...44,375,861 JBrowse link
G Comt catechol-O-methyltransferase no_association ISO DNA:polymorphism: :p.V158M (human) RGD PMID:19112571 PMID:24915010 RGD:8662333, RGD:8662336 NCBI chr11:96,072,371...96,091,956 JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility
no_association		 ISO associated with Autoimmune Diseases;DNA:polymorphisms: :
DNA:SNP:exon:+49A>G rs231775)(human)
DNA:SNPs:multiple:
DNA:SNP:3'UTR:rs3087243(human)		 RGD PMID:15649153 PMID:19129082 PMID:18200060 PMID:21794098 RGD:7411687, RGD:7411699, RGD:7411697, RGD:7411696 NCBI chr 9:69,812,859...69,819,959 JBrowse link
G Esr1 estrogen receptor 1 susceptibility
no_association		 ISO DNA:SNP:intron
DNA:SNP:exon		 RGD PMID:15381239 PMID:15381239 RGD:8552976, RGD:8552976 NCBI chr 1:43,511,685...43,904,454 JBrowse link
G Foxd3 forkhead box D3 susceptibility ISO ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 ClinVar
OMIM		 PMID:16098053 NCBI chr 5:119,450,532...119,452,898 JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 4:133,117,346...133,808,647 JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chr 4:19,628,902...19,700,467 JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A treatment ISO RGD PMID:23447019 RGD:8662840 NCBI chr20:3,875,411...3,877,866 JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:67,635,924...67,683,968 JBrowse link
G Ifng interferon gamma susceptibility
onset		 ISO DNA:repeats:intron:rs3138557(human)
DNA:polymorphism:intron:rs2430561(human)		 RGD PMID:23777204 PMID:23777204 RGD:8157616, RGD:8157616 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:1,643,379...1,687,524 JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chr10:38,290,926...38,293,483 JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 9:30,640,844...30,644,331 JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28836394 PMID:16911396 RGD:7794736 NCBI chr 3:136,979,804...136,990,236 JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr10:38,272,003...38,277,549 JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar PMID:28492532 PMID:32628964 PMID:32888943 NCBI chr10:31,254,667...31,316,004 JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:164,890,778...165,025,848 JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
no_association		 ISO DNA:polymorphism:exon:
DNA:polymorphisms:promoter, exon:		 RGD PMID:17337399 PMID:19416237 RGD:8693723, RGD:8693724 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr19:68,360,950...68,363,877 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 3:81,001,529...81,031,165 JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar
OMIM		 PMID:17377159 PMID:25741868 PMID:27662089 PMID:28492532 NCBI chr10:56,277,134...56,332,229 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 2:34,612,946...34,697,660 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chr20:4,668,952...4,674,421 JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp : cds: rs2476601
DNA:polymorphism: :1858C>T (p.R620W) (human)		 RGD PMID:16015369 PMID:18426414 RGD:6484552, RGD:7829737 NCBI chr 2:194,055,165...194,103,209 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:: HLA-DQA1*0302, HLA-DQA1*0601, HLA-DQA1*0501; RGD PMID:16409268 RGD:8547566 NCBI chr20:4,577,057...4,581,650 JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:HLA-DQB1*0201(human)		 RGD PMID:16420246 PMID:9653015 RGD:5147644, RGD:36174006 NCBI chr20:4,598,475...4,604,118 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism: : HLA-DRB1*0701(human)		 RGD PMID:16420246 PMID:9653015 RGD:5147644, RGD:36174006 NCBI chr20:4,550,594...4,560,182 JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr12:40,391,755...40,414,336 JBrowse link
G Sla src-like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:100,423,467...100,473,840 JBrowse link
G Sod2 superoxide dismutase 2 disease_progression ISO DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) RGD PMID:24036105 RGD:8547522 NCBI chr 1:50,043,323...50,050,168 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chr 2:171,499,189...171,504,831 JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chr 5:85,161,247...85,174,882 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28836394 PMID:16911396 RGD:7794736 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Tob2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:115,242,843...115,251,563 JBrowse link
G Tyr tyrosinase severity ISO RGD PMID:22834951 PMID:8697641 RGD:8694387, RGD:8694409 NCBI chr 1:150,527,687...150,622,857 JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:exon:rs2228570 (human)
DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)		 RGD PMID:22738935 PMID:22762534 PMID:22762534 RGD:8158061, RGD:8158066, RGD:8158066 NCBI chr 7:130,864,764...130,916,757 JBrowse link
Vogt-Koyanagi-Harada disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO associated with uveitis;protein:increased expression:aqueous humor: RGD PMID:21334264 RGD:8142356 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Itgb2 integrin subunit beta 2 ISO protein:decreased expression:T cell RGD PMID:21297967 RGD:6482200 NCBI chr20:11,061,009...11,097,242 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0301 RGD PMID:11835809 RGD:8547565 NCBI chr20:4,577,057...4,581,650 JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human)
DNA:snps:promoter:g.-227G>A, g.-189C>A (human)		 RGD PMID:17605936 PMID:19176112 RGD:7421525, RGD:7421581 NCBI chr20:4,598,475...4,604,118 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism: :HLA-DRB1*0405(human)
DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human)
DNA:polymorphisms (human)		 RGD PMID:15603876 PMID:9548078 PMID:20216938 PMID:10527396 RGD:5147653, RGD:7365099, RGD:7365067, RGD:5147857 NCBI chr20:4,550,594...4,560,182 JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:20438790 RGD:8661713 NCBI chr 9:56,964,617...57,080,523 JBrowse link
G Tnf tumor necrosis factor ISO associated with uveitis;protein:increased expression:aqueous humor: RGD PMID:21334264 RGD:8142356 NCBI chr20:3,626,685...3,629,303 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19136
    sensory system disease 7375
      skin disease 4320
        autoimmune disease of skin and connective tissue 194
          Vogt-Koyanagi-Harada disease 7
          alopecia areata + 29
          dermatitis herpetiformis + 4
          epidermolysis bullosa acquisita 0
          pemphigoid + 13
          pemphigus + 13
          psoriasis + 138
          psoriatic arthritis 24
          vitiligo + 48
Path 2
Term Annotations click to browse term
  disease 19136
    disease of anatomical entity 18448
      Immune & Inflammatory Diseases 5768
        immune system disease 5046
          primary immunodeficiency disease 4430
            autoimmune disease 2369
              autoimmune disease of musculoskeletal system 1004
                autoimmune disease of skin and connective tissue 194
                  Vogt-Koyanagi-Harada disease 7
                  alopecia areata + 29
                  dermatitis herpetiformis + 4
                  epidermolysis bullosa acquisita 0
                  pemphigoid + 13
                  pemphigus + 13
                  psoriasis + 138
                  psoriatic arthritis 24
                  vitiligo + 48
paths to the root