Disease Term Disease ID Gene Symbol Classification References Source
Orofacial cleft C3266076 BMP4 Causal Pathogenic evidence from ClinVar - ClinVar
OROFACIAL CLEFT 11 C2677434 BMP4 Causal Pathogenic evidence from ClinVar 2427285, 18252212, 19249007 ClinVar
OROFACIAL CLEFT 5 C1837210 MSX1 Causal Pathogenic evidence from ClinVar 12807959, 15354328, 25565750 ClinVar
SUMO1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16990542 -
OROFACIAL CLEFT 8 C1851878 TP63 Causal Pathogenic evidence from ClinVar 16740912 ClinVar
OROFACIAL CLEFT 15 C4225209 DLX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25954033 -
OROFACIAL CLEFT 7 C1833538 NECTIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OROFACIAL CLEFT 1 C1861537 NECTIN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21637507 -
PVR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21637507 -
OROFACIAL CLEFT 10 C1866070 SUMO1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22492558 -