COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003864
Disease: Arthritis
Arthritis
0.430 GeneticVariation disease BEFREE COPA (coatomer subunit α) syndrome is a newly recognised cause of interstitial lung disease in children and adults, frequently associated with arthritis and renal dysfunction. 31666386 2020
CUI: C0003864
Disease: Arthritis
Arthritis
0.430 GeneticVariation disease BEFREE Two new monogenic syndromes of inflammatory arthritis were discovered using whole exome sequencing: the coatomer subunit alpha syndrome because of rare mutations in coatomer subunit alpha and haploinsufficiency of A20 resulting from rare mutations in TNFAIP3. 27224741 2016
CUI: C0003864
Disease: Arthritis
Arthritis
0.430 Biomarker disease CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C0003864
Disease: Arthritis
Arthritis
0.430 GeneticVariation disease BEFREE COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C0003864
Disease: Arthritis
Arthritis
0.430 Biomarker disease HPO