Disease Term Disease ID Gene Symbol Classification References Source
Blepharo-cheilo-dontic syndrome C1861536 CDH1 Causal Pathogenic evidence from ClinVar 28301459 ClinVar
CTNND1 Causal Pathogenic evidence from ClinVar 28301459 ClinVar
Blepharo-cheilo-odontic syndrome 1997 CDH1 Causal Pathogenic evidence from ClinVar - ClinVar
CTNND1 Causal Pathogenic evidence from ClinVar - ClinVar
BLEPHAROCHEILODONTIC SYNDROME 1 C4551988 CDH1 Causal Pathogenic evidence from ClinVar 27566442, 28301459 ClinVar
BLEPHAROCHEILODONTIC SYNDROME 2 C4540127 CTNND1 Causal Pathogenic evidence from ClinVar - ClinVar