DisGeNET - a database of gene-disease associations

Menkes Kinky Hair Syndrome, C0022716

Gene: ATP7A ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.

22992316

2012

dbSNP:

rs72554652

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.

22992316

2012

dbSNP:

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

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: Menkes disease.

21487442

2011

dbSNP:

rs72554652

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: Menkes disease.

21487442

2011

dbSNP:

rs72554639

ATP7A ; PGK1

0.810

GeneticVariation

BEFREE

A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease.

20714486

2010

dbSNP:

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

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

ATP7A ; PGK1

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:

rs72554639

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.

11350187

2001

dbSNP:

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:

rs72554652

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.

11350187

2001

dbSNP:

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:

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:

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

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Mutation spectrum of ATP7A, the gene defective in Menkes disease.

10079817

1999

dbSNP:

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

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:

rs72554652

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Mutation spectrum of ATP7A, the gene defective in Menkes disease.

10079817

1999

dbSNP:

rs72554639

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

8981948

1997

dbSNP:

rs72554652

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

8981948

1997

dbSNP:

rs72554639

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Diverse mutations in patients with Menkes disease often lead to exon skipping.

7977350

1994

dbSNP:

rs72554652

ATP7A ; PGK1

0.810

GeneticVariation

UNIPROT

Diverse mutations in patients with Menkes disease often lead to exon skipping.

7977350

1994

dbSNP:

rs72554639

ATP7A ; PGK1

0.810

GeneticVariation

CLINVAR