Branchiooculofacial syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Branchio-Oculo-Facial Syndrome C0376524 EYA1 Causal Pathogenic evidence from ClinVar 12834866 ClinVar
TFAP2A Causal Pathogenic evidence from ClinVar 8824807, 10767004, 18423521, 19685247, 25590586 ClinVar
SIX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SIX5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TFAP2A-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Branchio-oculo-facial syndrome 1297 TFAP2A Causal Pathogenic evidence from ClinVar - ClinVar