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 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
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
Red cell distribution width determination
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
0.100 Biomarker phenotype HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
0.100 Biomarker phenotype HPO
CUI: C0030193
Disease: Pain
Pain
0.100 Biomarker phenotype HPO
CUI: C0037763
Disease: Spasm
Spasm
0.100 Biomarker phenotype HPO
CUI: C0043352
Disease: Xerostomia
Xerostomia
0.100 Biomarker disease HPO
CUI: C0085631
Disease: Agitation
Agitation
0.100 Biomarker phenotype HPO
CUI: C0085633
Disease: Mood swings
Mood swings
0.100 Biomarker disease HPO
CUI: C0522224
Disease: Paralysed
Paralysed
0.100 Biomarker phenotype HPO