TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907249
rs387907249
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
dbSNP: rs387907249
rs387907249
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
dbSNP: rs387907249
rs387907249
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 21436073 2011
dbSNP: rs387907249
rs387907249
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007
dbSNP: rs387907249
rs387907249
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 GeneticVariation UNIPROT Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 15814878 2005
dbSNP: rs387907249
rs387907249
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		T 0.800 CausalMutation CLINVAR