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 CTD_human
CUI: C2677608
Disease: Thrombocytopenia 4
Thrombocytopenia 4 		0.710 CausalMutation disease CLINVAR
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.650 Biomarker phenotype HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: CYCS: cytochrome c; bRHO<sup>P23H</sup>: bovine RHO<sup>P23H</sup>; Cas9: CRISPR associated protein 9; dpf: days post-fertilization; eGFP: enhanced green fluorescent protein; GNAT1: guanine nucleotide-binding protein G(t) subunit alpha-1 aka rod alpha-transducin; HSPA1A/hsp70: heat shock protein of 70 kilodaltons; LAMP1: lysosomal-associated membrane protein 1; LC3: microtubule-associated protein 1A/1B light chain 3; mRFP: monomeric red fluorescent protein; RHO: rhodopsin; RP: retinitis pigmentosa; RPE65: retinal pigment epithelium-specific 65 kDa protein: sfGFP: superfolding GFP; sgRNA: single guide RNA; WGA: wheat germ agglutinin; <i>RHO<sub>p</sub></i>: the <i>Xenopus laevis RHO.2.L</i> promoter. 30975014 2019
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 Biomarker disease BEFREE <b>Abbreviations:</b> 4HPR: 4-hydroxy(phenyl)retinamide; AKT: AKT1 serine/threonine kinase 1; ALS: amyotrophic lateral sclerosis; ATG: autophagy related; AVs: autophagic vesicle; C9orf72: chromosome 9 open reading frame 72; CASP3: caspase 3; CHAT: choline O-acetyltransferase; CYCS: cytochrome c, somatic; DIV: day in vitro; FTD: frontotemporal dementia; FUS: FUS RNA binding protein; GFP: green fluorescent protein; hiPSCs: human induced pluripotent stem cells; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; MNs: motoneurons; mRFP: monomeric red fluorescent protein; MTOR: mechanistic target of rapamycin kinase; NFE2L2/NRF2: nuclear factor, erythroid 2 like 2; RARA: retinoic acid receptor alpha; SLC18A3/VACHT: solute carrier family 18 (vesicular acetylcholine transporter), member 3; SQSTM1/p62: sequestosome 1; TBK1: TANK binding kinase 1; TEM: transmission electron microscopy. 30939964 2019
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
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 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 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: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 Biomarker phenotype BEFREE Progressive disease that was unresponsive to augmented immunosuppression with CYC was seen in five patients. 29562252 2018
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 Biomarker disease BEFREE Progressive disease that was unresponsive to augmented immunosuppression with CYC was seen in five patients. 29562252 2018
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 Biomarker disease BEFREE Leucopenia occurred more often in the CYC group compared to the TwHF group (P = 0.034). 31713733 2020
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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C0340613
Disease: Arterial aneurysm
Arterial aneurysm 		0.010 Biomarker disease BEFREE CYC and high dose glucocorticoids decreased mortality in pulmonary arterial aneurysms and postoperative complications in peripheral artery aneurysms. 30107448 2018
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 Biomarker disease BEFREE CYC remains an important treatment option for Behçet's syndrome (BS) patients with life-threatening manifestations. 31840168 2019
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: 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