Disease Term Disease ID Gene Symbol Classification References Source
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES C0796254 AP1S2 Causal Pathogenic evidence from ClinVar 1842820, 17186471, 17617514, 18428203, 23756445 ClinVar
CUL4B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -