Annotation Detail
Information
- Associated Genes
- MTFMT
- Associated Variants
-
MTFMT p.Ser209Leu (p.S209L)
(
ENST00000220058.9 )
MTFMT p.Ser209Leu (p.S209L) ( ENST00000220058.9 ) - Associated Disease
- Leigh disease
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- NA
Drugs