ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340632
rs151340632
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked
G 0.810 CausalMutation CLINVAR
dbSNP: rs72554639
rs72554639
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
C 0.810 GeneticVariation CLINVAR
dbSNP: rs72554652
rs72554652
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.810 CausalMutation CLINVAR
dbSNP: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked
T 0.800 CausalMutation CLINVAR
dbSNP: rs267606672
rs267606672
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C1845359
Disease:
Spinal Muscular Atrophy, Distal, X-Linked 3
0.800 GeneticVariation UNIPROT
dbSNP: rs267606672
rs267606672
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C1845359
Disease:
Spinal Muscular Atrophy, Distal, X-Linked 3
T 0.800 CausalMutation CLINVAR
dbSNP: rs72554644
rs72554644
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs72554644
rs72554644
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs797045390
rs797045390
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs151340633
rs151340633
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
T 0.710 CausalMutation CLINVAR
dbSNP: rs138958687
rs138958687
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs151340631
rs151340631
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs151340632
rs151340632
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1557236729
rs1557236729
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C1845359
Disease:
Spinal Muscular Atrophy, Distal, X-Linked 3
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557236754
rs1557236754
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1557236762
rs1557236762
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557236762
rs1557236762
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557237050
rs1557237050
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557237451
rs1557237451
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked
A 0.700 CausalMutation CLINVAR
dbSNP: rs1557237451
rs1557237451
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C1845359
Disease:
Spinal Muscular Atrophy, Distal, X-Linked 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs1557237451
rs1557237451
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1557238665
rs1557238665
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C1845359
Disease:
Spinal Muscular Atrophy, Distal, X-Linked 3
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557238665
rs1557238665
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557238665
rs1557238665
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0268353
Disease:
Cutis laxa, x-linked
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569549587
rs1569549587
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0022716
Disease:
Menkes Kinky Hair Syndrome
C 0.700 CausalMutation CLINVAR