ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606672
rs267606672
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C1845359
Disease:
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs267606672
rs267606672
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C1845359
Disease:
Spinal Muscular Atrophy, Distal, X-Linked 3 		T 0.800 CausalMutation CLINVAR