ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Menkes Kinky Hair Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554643
rs72554643
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.010 GeneticVariation BEFREE Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population. 11043517 2000
dbSNP: rs367775730
rs367775730
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs367775730
rs367775730
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 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: rs72554642
rs72554642
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs72554642
rs72554642
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 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: rs72554651
rs72554651
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 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: rs72554651
rs72554651
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs72554654
rs72554654
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs72554654
rs72554654
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 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: rs72554655
rs72554655
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs72554655
rs72554655
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 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: rs72554657
rs72554657
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
dbSNP: rs72554657
rs72554657
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 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: rs367775730
rs367775730
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442 2011
dbSNP: rs794729231
rs794729231
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		A 0.700 CausalMutation CLINVAR Splice site mutations in the ATP7A gene. 21494555 2011
dbSNP: rs367775730
rs367775730
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs72554642
rs72554642
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs72554651
rs72554651
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs72554654
rs72554654
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs72554655
rs72554655
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs72554657
rs72554657
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
dbSNP: rs367775730
rs367775730
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187 2001
dbSNP: rs367775730
rs367775730
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493 2001
dbSNP: rs72554642
rs72554642
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187 2001
dbSNP: rs72554642
rs72554642
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome 		0.700 GeneticVariation UNIPROT ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493 2001