Gene: ATP7A ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316

2012
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316

2012
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442

2011
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442

2011
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243

2005
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187

2001
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187

2001
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817

1999
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817

1999
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
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
ATP7A ; PGK1
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
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Identification of point mutations in 41 unrelated patients affected with Menkes disease. 8981948

1997
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Identification of point mutations in 41 unrelated patients affected with Menkes disease. 8981948

1997
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Diverse mutations in patients with Menkes disease often lead to exon skipping. 7977350

1994
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
0.810 GeneticVariation UNIPROT Diverse mutations in patients with Menkes disease often lead to exon skipping. 7977350

1994
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
C 0.810 GeneticVariation CLINVAR

dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
A 0.810 CausalMutation CLINVAR

dbSNP: rs72554644
rs72554644
ATP7A ; PGK1
0.800 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316

2012