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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:psoriatic arthritis
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Accession:DOID:9008 term browser 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



show annotations for term's descendants           Sort by:
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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G 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
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 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G 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
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G 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
JBrowse link
G 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
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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G 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
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:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G 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
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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G 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
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
RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... RGD:7394813 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        autoimmune disease of skin and connective tissue 193
          psoriatic arthritis 24
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5573
        immune system disease 4781
          primary immunodeficiency disease 4151
            autoimmune disease 2325
              autoimmune disease of musculoskeletal system 999
                autoimmune disease of skin and connective tissue 193
                  psoriasis 138
                    psoriatic arthritis 24
paths to the root