FBXO41, F-box protein 41, 150726

N. diseases: 5; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021704
Disease: Intelligence
0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation disease BEFREE To explore the roles of four paralogs (FBXO2, FBXO6, FBXO12, and FBXO41) in PD development, their variants (rs9614, rs28924120, rs6442117, and rs61733550, respectively) were analyzed in 502 Han Chinese patients with PD and 556 age, gender, and ethnicity-matched normal participants in mainland China. 28341977 2017
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
0.010 GeneticVariation disease BEFREE Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease. 28341977 2017
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.010 GeneticVariation phenotype BEFREE Interestingly, deletion of the FBXO41 gene results in a severely ataxic gait in mice, which show delayed neuronal migration of granule neurons in the developing cerebellum in addition to deformities and degeneration of the mature cerebellum. 26063905 2015
Malformations of Cortical Development, Group II
0.010 Biomarker disease BEFREE Loss of the neuron-specific F-box protein FBXO41 models an ataxia-like phenotype in mice with neuronal migration defects and degeneration in the cerebellum. 26063905 2015