Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7012
Gene Symbol: TERC
TERC
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
Entrez Id: 7012
Gene Symbol: TERC
TERC
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
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.180 GeneticVariation disease LHGDN Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. 17640862 2007
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.180 GeneticVariation disease LHGDN Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594 2007
Entrez Id: 7012
Gene Symbol: TERC
TERC
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
Entrez Id: 7012
Gene Symbol: TERC
TERC
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
Entrez Id: 7012
Gene Symbol: TERC
TERC
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
Entrez Id: 7012
Gene Symbol: TERC
TERC
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
Entrez Id: 7012
Gene Symbol: TERC
TERC
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
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.180 Biomarker disease HPO