Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.180 | GeneticVariation | disease | BEFREE | Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. | 30552465 | 2019 | ||||
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0.180 | GeneticVariation | disease | BEFREE | Blood samples from 66 patients with aplastic anemia (AA) in northern China were collected and TERC mutation analysis was performed.Two TERC mutations were identified. | 19942288 | 2010 | ||||
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0.180 | GeneticVariation | disease | LHGDN | Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. | 17640862 | 2007 | ||||
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0.180 | GeneticVariation | disease | LHGDN | Functional characterization of natural telomerase mutations found in patients with hematologic disorders. | 16990594 | 2007 | ||||
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0.180 | GeneticVariation | disease | BEFREE | Mutations in TERC have been identified in patients with autosomal dominant DC and in a subset of patients with aplastic anemia and myelodysplasia. | 17663679 | 2007 | ||||
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0.180 | GeneticVariation | disease | BEFREE | We aimed to determine the frequency of TERC mutations in pediatric patients with aplastic anemia and MDS who required a hematopoietic stem cell transplant. | 16825992 | 2006 | ||||
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0.180 | GeneticVariation | disease | BEFREE | Mutations in TERC, encoding the RNA component of telomerase, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA). | 15319288 | 2004 | ||||
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0.180 | GeneticVariation | disease | LHGDN | Mutations in TERC, encoding the RNA component of telomerase, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA). | 15319288 | 2004 | ||||
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0.180 | GeneticVariation | disease | LHGDN | Our results suggest that cryptic DKC, at least secondary to mutations in the TERC gene, is an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS. | 12676774 | 2003 | ||||
|
0.180 | Biomarker | disease | HPO |