Annotation Detail
Information
- Associated Genes
- GDAP1
- Associated Variants
-
GDAP1 MUTATION
GDAP1 MUTATION - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- DisGeNET
- Description
- GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either with recessive demyelinating (CMT4A) and axonal CMT (AR-CMT2K) and, less commonly, with dominant, milder, axonal CMT (CMT2K).
- Pubmed
- 25847151
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.152818179259917
Drugs