ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Cutis laxa, x-linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557237451
rs1557237451
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		A 0.700 CausalMutation CLINVAR