Annotation Detail

Information
Associated Genes
TERC
Associated Variants
TERC MUTATION
TERC MUTATION
Associated Disease
Idiopathic Pulmonary Fibrosis
Source Database
DisGeNET
Description
Mutations in telomerase complex genes (TERT or TERC) and short telomeres are genetic risk factors for the development of familial or sporadic idiopathic pulmonary fibrosis.
Pubmed
24993703
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,ORPHANET
DisGENET score for the Gene Disease association
0.361085767488321
Drugs