Annotation Detail

Information
Associated Genes
HRAS
Associated Variants
HRAS MUTATION
HRAS MUTATION
Associated Disease
Congenital muscular dystrophy (disorder)
Source Database
DisGeNET
Description
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Pubmed
25070542
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
0.000271441872080303
Drugs