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: rs1554038048
rs1554038048
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		C 0.700 GeneticVariation CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670 2018
dbSNP: rs199422294
rs199422294
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		T 0.700 CausalMutation CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670 2018
dbSNP: rs776981958
rs776981958
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		C 0.700 GeneticVariation CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670 2018
dbSNP: rs121918661
rs121918661
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: rs121918662
rs121918662
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: rs121918663
rs121918663
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: rs121918666
rs121918666
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 Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
dbSNP: rs387907250
rs387907250
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: rs387907251
rs387907251
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: rs121918664
rs121918664
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 GeneticVariation UNIPROT Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
dbSNP: rs141425941
rs141425941
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 GeneticVariation UNIPROT Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
dbSNP: rs387907248
rs387907248
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 GeneticVariation UNIPROT Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
dbSNP: rs121918661
rs121918661
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: rs121918662
rs121918662
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: rs121918663
rs121918663
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: rs121918666
rs121918666
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 Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
dbSNP: rs387907250
rs387907250
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: rs387907251
rs387907251
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: rs121918664
rs121918664
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 GeneticVariation UNIPROT Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
dbSNP: rs141425941
rs141425941
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 GeneticVariation UNIPROT Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
dbSNP: rs387907248
rs387907248
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3553617
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 GeneticVariation UNIPROT Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
dbSNP: rs121918661
rs121918661
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: rs121918662
rs121918662
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