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: 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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Chondrocytic HCS-2/8 cells and breast cancer MDA231 cells produce over 6 times more CCN2 than any other cell type. 17291666 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Chondrocytic HCS-2/8 cells and breast cancer MDA231 cells produce over 6 times more CCN2 than any other cell type. 17291666 2007
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: 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 GeneticVariation phenotype LHGDN 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 GENOMICS_ENGLAND A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.650 GeneticVariation phenotype LHGDN Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 19172527 2009
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: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 Biomarker disease BEFREE CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis. 22879465 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 Biomarker disease BEFREE CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis. 22879465 2012
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		0.010 Biomarker disease BEFREE CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis. 22879465 2012
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		0.010 Biomarker disease BEFREE CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis. 22879465 2012
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.650 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 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.050 GeneticVariation disease BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2013
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.010 Biomarker disease BEFREE The affected siblings display a recognizable phenotype which is similar to atypical HCS with regard to growth failure and neuro-muscular features, but is characterized by lack of cystinuria. 23794250 2013
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 Biomarker disease BEFREE The affected siblings display a recognizable phenotype which is similar to atypical HCS with regard to growth failure and neuro-muscular features, but is characterized by lack of cystinuria. 23794250 2013
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.010 Biomarker disease BEFREE Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. 23794250 2013
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.010 Biomarker disease BEFREE Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. 23794250 2013
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 Biomarker phenotype BEFREE The affected siblings display a recognizable phenotype which is similar to atypical HCS with regard to growth failure and neuro-muscular features, but is characterized by lack of cystinuria. 23794250 2013
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.010 GeneticVariation disease BEFREE Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. 23794250 2013