Annotation Detail
Information
- Associated Genes
- GDAP1
- Associated Variants
-
GDAP1 MUTATION
GDAP1 MUTATION - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- DisGeNET
- Description
- To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes.
- Pubmed
- 26362287
- Section of the abstract supporting the evidence
- OBJECTIVE
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.152818179259917
Drugs