Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 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 | Biomarker | phenotype | HPO | |||||||
|
0.650 | GeneticVariation | phenotype | LHGDN | A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. | 18345000 | 2008 | ||||
|
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 | GeneticVariation | phenotype | CLINVAR | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | 31064749 | 2019 | ||||
|
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 | Biomarker | phenotype | GENOMICS_ENGLAND | A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. | 18345000 | 2008 | ||||
|
0.650 | GeneticVariation | phenotype | BEFREE | Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes. | 27861742 | 2017 |