Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT MUTATION
TERT MUTATION - Associated Disease
- pulmonary emphysema
- Source Database
- DisGeNET
- Description
- Mutations in the essential telomerase genes TERT and TR cause familial pulmonary fibrosis; however, in telomerase-null mice, short telomeres predispose to emphysema after chronic cigarette smoke exposure.
- Pubmed
- 25562321
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs