CCNF, cyclin F, 899

N. diseases: 43; N. variants: 4
Disease: Frontotemporal dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Biomarker disease BEFREE Cyclin F dysfunction has been implicated in various forms of cancer and CCNF mutations were recently linked to familial and sporadic amyotrophic lateral sclerosis and frontotemporal dementia, offering a new lead to understanding the pathogenic mechanisms underlying neurodegeneration. 28652210 2017
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: 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