CYCS, cytochrome c, somatic, 54205

N. diseases: 32; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4 		0.610 CausalMutation disease CLINVAR 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 		0.610 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 		0.610 CausalMutation disease CLINVAR A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4 		0.610 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 		0.610 Biomarker disease CTD_human
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.440 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 2014
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.440 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
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.440 GeneticVariation phenotype LHGDN In 77 Italian patients with inherited thrombocytopenia and clinical and laboratory features similar to those of patients with the CYCS missense (Gly41Ser) mutation, no alterations of the open reading frame were identified. 19172527 2009
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.440 Biomarker phenotype CTD_human A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.440 GeneticVariation phenotype LHGDN Mutation of human cytochrome c enhances the intrinsic apoptotic pathway and causes thrombocytopenia 18345000 2008
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.440 Biomarker phenotype HPO
CUI: C0010828
Disease: Cytopenia
Cytopenia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 24326104 2014
CUI: C0158995
Disease: Congenital anemia
Congenital anemia 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 24326104 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 24326104 2014
CUI: C0010828
Disease: Cytopenia
Cytopenia 		0.300 Biomarker phenotype GENOMICS_ENGLAND A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C0158995
Disease: Congenital anemia
Congenital anemia 		0.300 Biomarker disease GENOMICS_ENGLAND A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C0263454
Disease: Chloracne
Chloracne 		0.300 Biomarker disease CTD_human Microarray analysis of gene expression in peripheral blood mononuclear cells from dioxin-exposed human subjects. 17101203 2007
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.300 Biomarker phenotype CTD_human Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 16823967 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.300 Biomarker disease CTD_human Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 16823967 2006
CUI: C0028754
Disease: Obesity
Obesity 		0.300 Biomarker disease CTD_human Alcohol increases tumor necrosis factor alpha and decreases nuclear factor-kappab to activate hepatic apoptosis in genetically obese mice. 16317704 2005
CUI: C0022116
Disease: Ischemia
Ischemia 		0.300 Biomarker phenotype CTD_human Minocycline inhibits apoptosis and inflammation in a rat model of ischemic renal injury. 15172883 2004
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.300 Biomarker disease CTD_human Overexpression of copper/zinc superoxide dismutase in transgenic rats protects vulnerable neurons against ischemic damage by blocking the mitochondrial pathway of caspase activation. 11756504 2002
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		0.300 Biomarker disease CTD_human Overexpression of copper/zinc superoxide dismutase in transgenic rats protects vulnerable neurons against ischemic damage by blocking the mitochondrial pathway of caspase activation. 11756504 2002
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.300 Biomarker disease CTD_human Manganese Superoxide Dismutase Affects Cytochrome c Release and Caspase-9 Activation After Transient Focal Cerebral Ischemia in Mice. 11333366 2001