CCNF, cyclin F, 899

N. diseases: 43; N. variants: 4
Disease: Amyotrophic Lateral Sclerosis ×
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 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 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 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: 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 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 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 GermlineCausalMutation disease ORPHANET 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 Biomarker disease HPO