CCNF, cyclin F, 899

N. diseases: 43; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 GeneticVariation disease BEFREE Enrichment of rare protein-altering CCNF variants was evident in a large sporadic ALS replication cohort. 27080313 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 GeneticVariation disease BEFREE Our result indicates that the mutation of CCNF is rare in patients with ALS and FTD from Mainland China. 28281833 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 GeneticVariation disease BEFREE Mutational analyses of the CCNF gene were performed using Sanger sequencing in a cohort of 255 unrelated patients with ALS. 29102476 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 GeneticVariation disease BEFREE This is the first report of an ALS-linked CCNF mutation in vivo and taken together with the in vitro model identifies the disruption of cell death pathways as a significant consequence of this mutation. 28444311 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 GeneticVariation disease BEFREE This is the first reported reprogramming of cells with a mutation in the cyclin F gene, and represents a novel resource for the study of amyotrophic lateral sclerosis. 31445393 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 GeneticVariation disease BEFREE In this study, we examined the ALS/FTD-causing p.Ser621Gly (p.S621G) mutation in cyclin F and its effect upon downstream Lys48-specific ubiquitylation in transfected Neuro-2A and SH-SY5Y cells. 28852778 2018
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.040 GeneticVariation disease BEFREE Interrogation of international cohorts identified additional novel CCNF variants in familial and sporadic ALS and FTD. 27080313 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.040 GeneticVariation disease BEFREE In this study, we examined the ALS/FTD-causing p.Ser621Gly (p.S621G) mutation in cyclin F and its effect upon downstream Lys48-specific ubiquitylation in transfected Neuro-2A and SH-SY5Y cells. 28852778 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.040 GeneticVariation disease BEFREE Our result indicates that the mutation of CCNF is rare in patients with ALS and FTD from Mainland China. 28281833 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.030 GeneticVariation disease BEFREE CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. 27080313 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.030 GeneticVariation disease BEFREE Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China. 28281833 2017
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.010 GeneticVariation group BEFREE A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). 7896286 1994
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma 		0.010 GeneticVariation disease BEFREE Recurrent mutations in two genes not previously associated with eBL were identified in 20% of tumors: RHOA and cyclin F (CCNF). 26468873 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Interrogation of international cohorts identified additional novel CCNF variants in familial and sporadic ALS and FTD. 27080313 2016
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		0.010 GeneticVariation disease BEFREE A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). 7896286 1994
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 Biomarker disease HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO