Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
AMPD1 p.Arg388Trp (p.R388W)
(
ENST00000369538.4,
ENST00000520113.7 )
AMPD1 p.Arg388Trp (p.R388W) ( ENST00000369538.4, ENST00000520113.7 ) - Associated Disease
- MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
- Source Database
- DisGeNET
- Description
- First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
- Pubmed
- 11102975
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- 2000
Drugs