ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554640
rs72554640
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0036572
Disease:
Seizures 		T 0.700 CausalMutation CLINVAR
dbSNP: rs72554644
rs72554644
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Two patients with the same G727R missense mutation both developed seizures that evolved with age but differed in severity. 24882692 2015