Disease Term Disease ID Gene Symbol Classification References Source
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D C4748058 EXOSC9 Causal Pathogenic evidence from ClinVar 29727687 ClinVar
Primary Erythermalgia C0014805 SCN10A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCN11A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCN1A-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21698661, 22035805, 26633545 -
SCN9A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14985375, 15385606, 15955112, 15958509, 16216943, 16392115, 16702558, 16988069, 17145499, 18945915, 19369487, 19549232, 19557861, 21698661, 22035805, 24311784, 26633545, 28665811 -