COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Disease: Lung Diseases, Interstitial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 GeneticVariation group 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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 GeneticVariation group 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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 Biomarker group CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 Biomarker group HPO