Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
0.010 GeneticVariation BEFREE Recently a model has been proposed according to which failed nuclear translocation of the truncated β(4) subunit R482X mutation resulted in altered transcriptional regulation and consequently in neurological disease. 24875574 2014