rs151340632
ATP7A;PGK1
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
rs72554639
ATP7A;PGK1
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
rs72554639
ATP7A;PGK1
Menkes Kinky Hair Syndrome
0.810
GeneticVariation
UNIPROT
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
22992316
2012
rs72554652
ATP7A;PGK1
Menkes Kinky Hair Syndrome
0.810
GeneticVariation
UNIPROT
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
22992316
2012
rs72554652
ATP7A;PGK1
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
rs151340632
ATP7A;PGK1
Cutis laxa, x-linked
0.810
GeneticVariation
UNIPROT
Clinical utility gene card for: Menkes disease.
21487442
2011
rs72554639
ATP7A;PGK1
Menkes Kinky Hair Syndrome
0.810
GeneticVariation
UNIPROT
Clinical utility gene card for: Menkes disease.
21487442
2011
rs72554652
ATP7A;PGK1
Menkes Kinky Hair Syndrome
0.810
GeneticVariation
UNIPROT
Clinical utility gene card for: Menkes disease.
21487442
2011
rs72554639
ATP7A;PGK1
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
rs137852538
×
Entrez Id:
5230
Gene Symbol:
PGK1
PGK1
Phosphoglycerate Kinase 1 Deficiency
0.810
GeneticVariation
BEFREE
The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. 491A --> T ) PGK1 gene mutation.
16740138
2006
rs151340632
ATP7A;PGK1
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
rs151340632
ATP7A;PGK1
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
rs72554639
ATP7A;PGK1
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
rs72554652
ATP7A;PGK1
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
rs72554652
ATP7A;PGK1
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
rs151340632
ATP7A;PGK1
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
rs72554639
ATP7A;PGK1
Menkes Kinky Hair Syndrome
0.810
GeneticVariation
UNIPROT
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
11350187
2001
rs72554639
ATP7A;PGK1
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
rs72554652
ATP7A;PGK1
Menkes Kinky Hair Syndrome
0.810
GeneticVariation
UNIPROT
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
11350187
2001
rs72554652
ATP7A;PGK1
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
rs72554639
ATP7A;PGK1
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
rs72554639
ATP7A;PGK1
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
rs72554639
ATP7A;PGK1
Menkes Kinky Hair Syndrome
0.810
GeneticVariation
UNIPROT
Mutation spectrum of ATP7A, the gene defective in Menkes disease.
10079817
1999
rs72554652
ATP7A;PGK1
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
rs72554652
ATP7A;PGK1
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