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 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: 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.650 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
0.650 GeneticVariation phenotype BEFREE Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes. 27861742 2017
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 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: 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: 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: 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
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.030 Biomarker disease BEFREE A retrospective cohort of SSc subjects with ILD, disease duration below seven years and no exposure to CYC or MMF prior to the baseline visit was constructed from the Canadian Scleroderma Research Group registry. 31535689 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic 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: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.030 Biomarker disease BEFREE A retrospective cohort of SSc subjects with ILD, disease duration below seven years and no exposure to CYC or MMF prior to the baseline visit was constructed from the Canadian Scleroderma Research Group registry. 31535689 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic 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
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.030 Biomarker group BEFREE In both treatment arms (n = 71 for CYC, n = 62 for MMF), a higher baseline KL-6 level predicted progression of ILD based on the course of FVC (P = 0.024 for CYC; P = 0.005 for MMF) and DLco (P < 0.001 for CYC; P = 0.004 for MMF) over 1 year. 31233287 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.030 Biomarker group BEFREE The aim of the study was to compare the efficacy and safety of RTX compared with CYC in retarding the progression of interstitial lung disease and skin manifestations of primary SSc. 30053212 2018
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.030 Biomarker group BEFREE Our aim was to determine whether use of CYC or MMF was associated with an improved ILD course in patients with normal or mildly impaired lung function. 31535689 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation group BEFREE Patients were called in and a standard form was used for collecting demographic characteristics, indication for CYC, its cumulative dose and short term adverse events, defined as those causing discontinuation of CYC, hospitalization and/or death, long term adverse events, including infertility and malignancy, and outcome. 31840168 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation group BEFREE CYC increases the risk of cancer, and HCQ decreases this risk in SLE patients, both in a dose-dependent manner. 28039419 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 Biomarker disease BEFREE Two subcohorts of treated SLE patients were defined on the basis of treatment with antimalarials (n = 1942) and other immunosuppressants (AZA, CYC, ciclosporin, MTX, MMF or rituximab; n = 2175). 28039412 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 Biomarker disease BEFREE To address the possibility of a marginal effect on the ovarian reserve, we measured serum titers of anti-Müllerian hormone (AMH) in patients with systemic lupus erythematosus (SLE) treated with the Euro-Lupus regimen and compared them with those measured in patients who were treated with higher doses of IV CYC or were never treated with IV CYC. 28235250 2017