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: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.800 GeneticVariation UNIPROT The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. 21667063 2012
dbSNP: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442 2011
dbSNP: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.800 GeneticVariation UNIPROT Functional copper transport explains neurologic sparing in occipital horn syndrome. 17108763 2006
dbSNP: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.800 GeneticVariation UNIPROT A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. 11431706 2001
dbSNP: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.800 GeneticVariation UNIPROT A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. 9246006 1997
dbSNP: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		T 0.800 CausalMutation CLINVAR