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: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 Biomarker disease HPO
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		0.100 Biomarker phenotype HPO
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		0.100 Biomarker phenotype HPO
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE These findings highlight a novel aspect of cyclin F functions in inhibiting tumorigenesis and provide mechanistic insights into regulation of <i>IDH1<sup>R132H</sup></i><b>Significance:</b> These findings reveal mechanistic insights into the key role of the cyclin F-RBPJ axis in response to metabolic stress in cancer cells.<i>Cancer Res; 78(22); 6386-98.©2018 AACR</i>. 30254149 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE There is little evidence concerning the role of cyclin F in cancer. 29767233 2018
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE These findings highlight a novel aspect of cyclin F functions in inhibiting tumorigenesis and provide mechanistic insights into regulation of <i>IDH1<sup>R132H</sup></i><b>Significance:</b> These findings reveal mechanistic insights into the key role of the cyclin F-RBPJ axis in response to metabolic stress in cancer cells.<i>Cancer Res; 78(22); 6386-98.©2018 AACR</i>. 30254149 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE There is little evidence concerning the role of cyclin F in cancer. 29767233 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE In this review, we evaluate the current literature on the function of cyclin F with an emphasis on its roles in cancer and neurodegeneration. 28652210 2017
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE In this review, we evaluate the current literature on the function of cyclin F with an emphasis on its roles in cancer and neurodegeneration. 28652210 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE We highlight the relevance of cyclin F in controlling genome stability through ubiquitin-mediated proteolysis and the implications for cancer development. 23182110 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE We highlight the relevance of cyclin F in controlling genome stability through ubiquitin-mediated proteolysis and the implications for cancer development. 23182110 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.030 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: 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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE CCNF), and genes known to interact with breast cancer-associated genes (e.g. 22446932 2012