Disease Term Disease ID Gene Symbol Classification References Source
Erythromelalgia C0014804 SCN9A Causal Pathogenic evidence from ClinVar 17145499, 19549232, 19557861 ClinVar
NMNAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31132363, 31136762 -
Primary erythromelalgia 90026 SCN9A Causal Pathogenic evidence from ClinVar - ClinVar
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 - -