ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340632
rs151340632
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.810 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: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 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: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 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: rs151340632
rs151340632
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442 2011
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442 2011
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442 2011
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation BEFREE A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease. 20714486 2010
dbSNP: rs151340632
rs151340632
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.810 GeneticVariation UNIPROT We studied two brothers with typical occipital horn syndrome and used yeast complementation and timed growth assays, exploiting a Saccharomyces cerevisiae mutant strain, to assess in vitro N1304S copper transport. 17108763 2006
dbSNP: rs151340632
rs151340632
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.810 GeneticVariation BEFREE We studied two brothers with typical occipital horn syndrome and used yeast complementation and timed growth assays, exploiting a Saccharomyces cerevisiae mutant strain, to assess in vitro N1304S copper transport. 17108763 2006
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation BEFREE These findings identify G1019D as the first conditional mutation associated with Menkes disease and demonstrate correction of the mislocalized protein by copper supplementation. 12221109 2002
dbSNP: rs151340632
rs151340632
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked 		0.810 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: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187 2001
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493 2001
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187 2001
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493 2001
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. 10319589 1999
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. 10401004 1999
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817 1999
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. 10319589 1999
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. 10401004 1999
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.810 GeneticVariation UNIPROT Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817 1999