Disease Term Disease ID Gene Symbol Classification References Source
CHARGE syndrome 138 CHD7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SEMA3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHARGE Syndrome C0265354 CHD7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15300250, 16155193, 16400610, 16615981, 16763960, 17149726, 17334657, 17661815, 18073582, 18074359, 18445044, 19021638, 20052490, 20130577, 20186815, 20453063, 20624498, 20884005, 21158681, 21532573, 21554267, 21931733, 22033296, 22461308, 22462537, 23024289, 25077900, 25119037, 25472840, 25818041, 26538304, 26544072, 26551301, 26663670, 27061523, 29255276, 30828794 -
SEMA3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12144540, 15235037, 25985275 -
Familial CHARGE Syndrome C2936502 CHD7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16615981, 21532573 -
SEMA3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -