ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Peripheral motor neuropathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606673
rs267606673
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0235025
Disease:
Peripheral motor neuropathy 		0.040 GeneticVariation BEFREE We have generated an Atp7a conditional knock in mouse model of dHMNX expressing Atp7a(T985I), the orthologue of the human ATP7A(T994I) identified in dHMNX patients. 27293072 2016
dbSNP: rs267606673
rs267606673
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0235025
Disease:
Peripheral motor neuropathy 		0.040 GeneticVariation BEFREE Recently, two unique ATP7A missense mutations, T994I and P1386S, were shown to cause isolated adult-onset distal motor neuropathy. 24754450 2014
dbSNP: rs267606673
rs267606673
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0235025
Disease:
Peripheral motor neuropathy 		0.040 GeneticVariation BEFREE We investigated two ATP7A motor neuropathy mutations (T994I, P1386S) previously associated with abnormal intracellular trafficking. 22210628 2012
dbSNP: rs267606673
rs267606673
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0235025
Disease:
Peripheral motor neuropathy 		0.040 GeneticVariation BEFREE We identified two unique ATP7A missense mutations (p.P1386S and p.T994I) in males with distal motor neuropathy in two families. 20170900 2010