Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT MUTATION
TERT MUTATION
Associated Disease
pulmonary fibrosis
Source Database
DisGeNET
Description
Mutations in the genes encoding telomerase (TERT and TERC) cause pulmonary fibrosis through low telomerase activity, accelerated telomere shortening and exhaustion of lung stem cells.
Pubmed
26016050
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
6
Original source reporting the Gene Disease association
BeFree,GAD,LHGDN
DisGENET score for the Gene Disease association
0.0101728329204743
Drugs