Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25793
Gene Symbol: FBXO7
FBXO7
0.410 GeneticVariation phenotype BEFREE We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. 20694531 2010
Entrez Id: 25793
Gene Symbol: FBXO7
FBXO7
0.410 Biomarker phenotype GENOMICS_ENGLAND FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. 19038853 2009
Entrez Id: 25793
Gene Symbol: FBXO7
FBXO7
0.410 Biomarker phenotype HPO