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: psoriatic arthritis
Accession: DOID:9008
browse the term
Definition: An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. (DO)
Synonyms: exact_synonym: Arthritic Psoriasis; PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO; Psoriasis Arthropathica; Psoriatic Arthropathies; Psoriatic Arthropathy; arthritis psoriatica; arthropathic psoriasis
narrow_synonym: PSORAS1; PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1
primary_id: MESH:D015535
alt_id: OMIM:607507
xref: EFO:0003778 ; ICD10CM:L40.5 ; ICD9CM:696.0 ; NCI:C61277
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:16936328
RGD:5683894
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human)
RGD
PMID:20153665
RGD:8661745
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19732956
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms: :4887C>A, 4889A>G (human)
RGD
PMID:15124938
RGD:5147746
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Fbxl19
F-box and leucine-rich repeat protein 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953189
NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953186
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il13
interleukin 13
susceptibility
ISO
DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)
RGD
PMID:21349879 PMID:19554022
RGD:8549517 , RGD:8549552
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
severity treatment
ISO
RGD
PMID:24567524 PMID:23361084
RGD:8698658 , RGD:9068444
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Irak1
interleukin-1 receptor-associated kinase 1
susceptibility
ISO
DNA:SNP:enhancer: (rs3027898) (human)
RGD
PMID:20500689
RGD:7495783
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Lta
lymphotoxin alpha
treatment susceptibility
ISO
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:12426569 PMID:12746914 PMID:14681301 PMID:22480318
RGD:8548821
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408446
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:11796404
RGD:7241254
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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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 chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953189
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19732956
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22751595
RGD:6771221
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: snp: cds: rs2476601 DNA:missense mutation: :R620W (rs2476601) (human)
RGD
PMID:21410964 PMID:15934099
RGD:6484592 , RGD:6484550
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Stat3
signal transducer and activator of transcription 3
no_association
ISO
DNA:SNP: :rs744166 (human) DNA:SNP: :rs2293152 (human)
RGD
PMID:23127549 PMID:23127549
RGD:8694309 , RGD:8694309
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs10181656 (human)
RGD
PMID:22328738
RGD:8661724
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :-238G>A(rs361525)(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
CTD ClinVar RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:19732956 PMID:22760475 PMID:22992668 PMID:9326391 More...
RGD:7394813
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Traf3ip2
Traf3 interacting protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20953186 PMID:20953188
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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