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 CausalMutation disease CLINVAR
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		0.030 AlteredExpression disease BEFREE Chorionic somatomammotropin (hCS) genes (hCS-A and hCS-B) and the placental growth hormone variant (hGH-V) gene are expressed in the syncytiotrophoblast in vivo, and at low levels in cytotrophoblast-like choriocarcinoma (BeWo) cells. 8472847 1993
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		0.030 AlteredExpression disease BEFREE Each individual concatenated enhanson was able to stimulate hCS promoter activity in an orientation-independent manner in choriocarcinoma cells (BeWo) with an observed stimulation that was directly proportional to its relative binding affinity for TEF-1 and CSEF-1. 9259314 1997
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		0.030 AlteredExpression disease BEFREE We demonstrated that TEF-1 represses hCS promoter activity in choriocarcinoma (BeWo) cells (Jiang, S.W., and Eberhardt, N.L.(1995) J. Biol.Chem. 8621623 1996
CUI: C0349459
Disease: Cervical intraepithelial neoplasia grade 2
Cervical intraepithelial neoplasia grade 2 		0.010 AlteredExpression disease BEFREE In addition, the transcription of PCBP2, MCM5, hnRNPA1, TYPH, and CYC was also significantly increased in cervical intraepithelial neoplasia II-III compared to normal cervix. 28443473 2017
CUI: C1833213
Disease: Hyperferritinemia, hereditary, with congenital cataracts
Hyperferritinemia, hereditary, with congenital cataracts 		0.010 AlteredExpression disease BEFREE Taken together, spontaneous mutation in the IRE of L-ferritin may cause non-H-HCS by the same mechanism as HHCS. 19800271 2010
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 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 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.650 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 		0.650 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