Annotation Detail
Information
- Associated Genes
- ATP7A
- Associated Variants
-
ATP7A p.Ala629Pro (p.A629P)
(
ENST00000341514.11,
ENST00000343533.10,
ENST00000685264.1,
ENST00000686033.1,
ENST00000686133.1,
ENST00000686480.1,
ENST00000686543.1,
ENST00000686688.1,
ENST00000687086.1,
ENST00000689649.1,
ENST00000689767.1,
ENST00000692908.1,
ENST00000693398.1,
ENST00000644362.1 )
ATP7A p.Ala629Pro (p.A629P) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 ) - Associated Disease
- Menkes Kinky Hair Syndrome
- Source Database
- DisGeNET
- Description
- A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease.
- Pubmed
- 20714486
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.606244433470293
- Year of publication
- 2010
Drugs