Annotation Detail
Information
- Associated Genes
- GDAP1
- Associated Variants
-
GDAP1 MUTATION
GDAP1 MUTATION - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- DisGeNET
- Description
- A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
- Pubmed
- 25337607
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.152818179259917
Drugs