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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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility ISO DNA:polymorphisms: :4887C>A, 4889A>G (human) RGD PMID:15124938 RGD:5147746 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		JBrowse link
G FBXL19 F-box and leucine rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr16:24,020,365...24,046,217
Ensembl chr16:31,290,476...31,315,169 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381 		JBrowse link
G IL13 interleukin 13 susceptibility ISO DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)
DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human		 RGD PMID:19554022 PMID:21349879 RGD:8549517 RGD:8549552 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548 		JBrowse link
G IL17A interleukin 17A severity
treatment		 ISO RGD PMID:23361084 PMID:24567524 RGD:8698658 RGD:9068444 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		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:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602 		JBrowse link
G LOC100982294 class I histocompatibility antigen, Gogo-C*0202 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr 6:31,020,373...31,024,959
Ensembl chr 6:31,910,788...31,914,286 		JBrowse link
G LTA lymphotoxin alpha susceptibility
treatment		 ISO ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to OMIM
RGD
ClinVar		 PMID:12426569 PMID:12746914 PMID:14681301 PMID:22480318 RGD:8548821 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408446 NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		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 chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr2B:43,584,835...43,593,118
Ensembl chr2B:160,826,091...160,837,162 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22751595 RGD:6771221 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067 		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:15934099 PMID:21410964 RGD:6484550 RGD:6484592 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		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 RGD:8694309 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs10181656 (human) RGD PMID:22328738 RGD:8661724 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP: :-238G>A(rs361525)(human)
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to		 RGD
ClinVar		 PMID:8056188 PMID:9326391 PMID:9818939 PMID:10450718 PMID:11261930 More... RGD:7394813 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 NCBI chr 6:109,367,333...109,414,601
Ensembl chr 6:113,444,005...113,485,533 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      skin disease 3772
        autoimmune disease of skin and connective tissue 195
          psoriatic arthritis 25
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Immune & Inflammatory Diseases 5048
        immune system disease 4393
          primary immunodeficiency disease 3796
            autoimmune disease 2024
              autoimmune disease of musculoskeletal system 910
                autoimmune disease of skin and connective tissue 195
                  psoriasis 139
                    psoriatic arthritis 25
paths to the root