Annotation Detail

Information
Associated Genes
POLG
Associated Variants
POLG MUTATION
POLG MUTATION
Associated Disease
Sensory neuropathy
Source Database
DisGeNET
Description
The widespread neuromuscular signs were often present since disease onset and were the rule above 50 years of age leading to a very low probability of POLG mutations in patients with less than three signs and absent sensory neuropathy.
Pubmed
25118206
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
10
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs