rs121918666, TERT

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.800 CausalMutation CLINVAR
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
0.700 CausalMutation CLINVAR
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
0.700 CausalMutation CLINVAR