FBXO7, F-box protein 7, 25793

N. diseases: 76; N. variants: 51
Disease: Parkinsonism, Juvenile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.310 GeneticVariation disease BEFREE Among these, homozygous or compound heterozygous mutations in the F-box only protein 7 gene (FBXO7) cause juvenile parkinsonism with variable degrees of pyramidal disturbances (PARK15). 25085748 2014
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.310 Biomarker disease GENOMICS_ENGLAND FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. 19038853 2009