Annotation Detail

Information
Associated Genes
MLH1
Associated Variants
MLH1 MUTATION
MLH1 MUTATION
Associated Disease
Friedreich ataxia
Source Database
DisGeNET
Description
We propose that upregulation of MLH1 or PMS2 could be potential FRDA therapeutic approaches to increase FXN transcription.
Pubmed
24971578
Section of the abstract supporting the evidence
CONCLUSIONS/SIGNIFICANCE
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs