Annotation Detail

Information
Associated Genes
DES
Associated Variants
DES MUTATION
DES MUTATION
Associated Disease
myofibrillar myopathy
Source Database
DisGeNET
Description
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Pubmed
25541946
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
DisGENET score for the Gene Disease association
0.00651460492992728
Drugs