Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
Associated Disease
amyotrophic lateral sclerosis
Source Database
DisGeNET
Description
We found that hTERT expression level was significantly lower in ALS patients and was correlated either to p53 mRNA expression or p21 expression, pointing out the hypothesis that telomerase inhibition could be a pathogenetic contributor to neurodegeneration in ALS.
Pubmed
25142509
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
4
Original source reporting the Gene Disease association
BeFree,CTD_human
DisGENET score for the Gene Disease association
0.121628651232482
Drugs