Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Pulmonary fibrosis, bone marrow failure, and telomerase mutation. | 22512499 | 2012 |
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|
0.700 | GeneticVariation | UNIPROT | Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. | 21436073 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. | 21483807 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Adult-onset pulmonary fibrosis caused by mutations in telomerase. | 17460043 | 2007 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. | 15814878 | 2005 |