COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Disease: Autoinflammatory disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker disease GENOMICS_ENGLAND COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. 29137621 2017