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 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 Biomarker disease CTD_human
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4 		0.710 CausalMutation disease CLINVAR
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 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 UNIPROT A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
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: 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
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.300 Biomarker disease CTD_human Mitochondrial adaptations to obesity-related oxidant stress. 10860543 2000
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: 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: C0472381
Disease: Posterior Circulation Transient Ischemic Attack
Posterior Circulation 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
CUI: C0751019
Disease: Carotid Circulation Transient Ischemic Attack
Carotid Circulation 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
CUI: C0751020
Disease: Transient Ischemic Attack, Vertebrobasilar Circulation
Transient Ischemic Attack, Vertebrobasilar Circulation 		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
CUI: C0751021
Disease: Crescendo Transient Ischemic Attacks
Crescendo Transient Ischemic Attacks 		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
CUI: C0751022
Disease: Brain Stem Ischemia, Transient
Brain Stem Ischemia, Transient 		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
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: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		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
CUI: C1527335
Disease: Transient Ischemic Attack, Anterior Circulation
Transient Ischemic Attack, Anterior Circulation 		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
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: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.300 Biomarker disease CTD_human Mitochondrial adaptations to obesity-related oxidant stress. 10860543 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014