Annotation Detail
Information
- Associated Genes
- ATP7A
- Associated Variants
-
ATP7A p.Gly1019Asp (p.G1019D)
(
ENST00000341514.11,
ENST00000343533.10,
ENST00000685264.1,
ENST00000686033.1,
ENST00000686133.1,
ENST00000686543.1,
ENST00000687086.1,
ENST00000689767.1,
ENST00000692908.1,
ENST00000644362.1 )
ATP7A p.Gly1019Asp (p.G1019D) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 ) - Associated Disease
- Menkes Kinky Hair Syndrome
- Source Database
- DisGeNET
- Description
- In this study, a Menkes disease mutation, G1019D, located in the large cytoplasmic loop of MNK, was characterized in transfected cultured cells.
- Pubmed
- 12221109
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.606244433470293
- Year of publication
- 2002
Drugs