CYCS, cytochrome c, somatic, 54205

N. diseases: 67; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 Biomarker disease GENOMICS_ENGLAND A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. 30051457 2018
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 Biomarker disease GENOMICS_ENGLAND 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
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 GeneticVariation disease 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
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 Biomarker disease GENOMICS_ENGLAND 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
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 Biomarker disease GENOMICS_ENGLAND A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 Biomarker disease GENOMICS_ENGLAND A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 GeneticVariation disease UNIPROT A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 Biomarker disease CTD_human
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4
0.710 CausalMutation disease CLINVAR