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: C0162323
Disease: Polyarthritis
Polyarthritis
0.310 GeneticVariation disease BEFREE Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. 29030294 2018
CUI: C0162323
Disease: Polyarthritis
Polyarthritis
0.310 Biomarker disease CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015