FBXO7, F-box protein 7, 25793

N. diseases: 76; N. variants: 51
Disease: Polio and Post-Polio Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456687
Disease: Polio and Post-Polio Syndrome
Polio and Post-Polio Syndrome 		0.030 Biomarker disease BEFREE Mutations of F-box only protein 7 (FBXO7) gene are associated with a severe form of autosomal recessive juvenile Parkinson's disease (PD) (PARK15) with clinical features of Parkinsonian-Pyramidal syndrome (PPS). 30454685 2019
CUI: C1456687
Disease: Polio and Post-Polio Syndrome
Polio and Post-Polio Syndrome 		0.030 Biomarker disease BEFREE FBXO7 encodes the F-box component of the SCF E3 ubiquitin ligase linked to familial forms of PPS. 27936908 2017
CUI: C1456687
Disease: Polio and Post-Polio Syndrome
Polio and Post-Polio Syndrome 		0.030 Biomarker disease BEFREE This pathway has been implicated in various neurodegenerative diseases, and identification of FBXO7 as the causative gene of PPS is expected to shed new light on its role. 18513678 2008