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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.650 Biomarker phenotype HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.650 Biomarker phenotype GENOMICS_ENGLAND 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: 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: 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: 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: 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: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.050 Biomarker disease BEFREE In this study, we investigated the effect of long-term exposure to 5% low oxygen atmosphere on human chondrosarcoma HCS-2/8 cells. 28865129 2018
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.050 Biomarker disease BEFREE HCS-2/8 is a stable human chondrosarcoma cell line with many chondrocytic characteristics and has the capacity to form chondrosarcomas in nude mice. 8200849 1994
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.050 Biomarker disease BEFREE Cell density-dependent proliferative effects of transforming growth factor (TGF)-beta 1, beta 2, and beta 3 in human chondrosarcoma cells HCS-2/8 are associated with changes in the expression of TGF-beta receptor type I. 11458815 2001
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.050 Biomarker disease BEFREE New clonal-cell lines HCS-TG C3 and E2 derived from human chondrosarcoma are morphologically chondrocytic in serial monolayer cultures and express chondrocytic phenotypes. 15118855 2004
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.030 Biomarker disease BEFREE Patients enrolled in the Scleroderma Lung Study II (cyclophosphamide [CYC] versus mycophenolate mofetil [MMF]) were included. 31233287 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.030 Biomarker disease BEFREE RTX is a safe and effective alternative to CYC in the primary therapy of skin and lung manifestations of scleroderma. 30053212 2018