Disease Term Disease ID Gene Symbol Classification References Source
Cryptogenic Infantile Spasms C0393698 CRH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11341487 -
HSD17B4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16919904 -
POMC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1324751, 1327015, 1656808, 1965992, 2551692, 2554740, 2853496, 2983143, 6107850, 6143199, 6254450, 6259007, 8381257, 8928979, 8980841, 10908253, 11341487, 17287597, 19039989, 20078871 -
TSC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18345974 -
TSC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18345974 -
UPB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18853477 -