Haddad syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CCHS WITH HIRSCHSPRUNG DISEASE C1859049 PHOX2B Causal Pathogenic evidence from ClinVar 12640453, 14608649 ClinVar
ASCL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EDN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8696331 -
GDNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9497256 -
RET Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9497256, 9565426, 12086152 -
Haddad syndrome 99803 PHOX2B Causal Pathogenic evidence from ClinVar - ClinVar
ASCL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RET Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -