rs121918661, 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
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 CLINVAR
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749 2009
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594 2007
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250 2006
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610 2005
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
0.700 CausalMutation CLINVAR