Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.650 | GeneticVariation | phenotype | CLINVAR | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | 31064749 | 2019 | ||||
|
0.650 | GeneticVariation | phenotype | BEFREE | Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes. | 27861742 | 2017 | ||||
|
0.650 | GeneticVariation | phenotype | BEFREE | THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene. | 24326104 | 2014 | ||||
|
0.650 | GeneticVariation | phenotype | BEFREE | In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1. | 23636669 | 2013 | ||||
|
0.650 | GeneticVariation | phenotype | LHGDN | Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. | 19172527 | 2009 | ||||
|
0.650 | Biomarker | phenotype | CTD_human | A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. | 18345000 | 2008 | ||||
|
0.650 | GeneticVariation | phenotype | LHGDN | A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. | 18345000 | 2008 | ||||
|
0.650 | Biomarker | phenotype | GENOMICS_ENGLAND | A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. | 18345000 | 2008 | ||||
|
0.650 | Biomarker | phenotype | HPO |