COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727993
rs794727993
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		T 0.800 CausalMutation CLINVAR COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
dbSNP: rs794727993
rs794727993
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.800 GeneticVariation UNIPROT