Annotation Detail

Information
Associated Genes
GDAP1
Associated Variants
GDAP1 MUTATION
GDAP1 MUTATION
Associated Disease
Charcot-Marie-Tooth disease
Source Database
DisGeNET
Description
Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we propose a simplified classification such as AR CMT1 (A, B, C …), and AR CMT2 for axonal forms.
Pubmed
25454638
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
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