rs72554646, ATP7A;PGK1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. 22992316 2012
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT To elucidate the molecular consequences of the ATP7A mutations, various mutations in ATP7A associated with distinct phenotypes of MD (L873R, C1000R, N1304S, and A1362D) were analyzed in detail. 21667063 2012
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation BEFREE To elucidate the molecular consequences of the ATP7A mutations, various mutations in ATP7A associated with distinct phenotypes of MD (L873R, C1000R, N1304S, and A1362D) were analyzed in detail. 21667063 2012
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. 15981243 2005
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187 2001
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493 2001
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. 10319589 1999
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. 10401004 1999
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817 1999
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT Identification of point mutations in 41 unrelated patients affected with Menkes disease. 8981948 1997
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
0.710 GeneticVariation UNIPROT Diverse mutations in patients with Menkes disease often lead to exon skipping. 7977350 1994