Disease Term Disease ID Gene Symbol Classification References Source
Oto-Palato-digital syndrome type 1 C0265251 FLNA Causal Pathogenic evidence from ClinVar 12612583, 14988809, 15940695, 16596676, 27193221, 28425981 ClinVar
OFD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16783569 -
Otopalatodigital syndrome type 1 90650 FLNA Causal Pathogenic evidence from ClinVar - ClinVar
Otopalatodigital syndrome type 2 90652 FLNA Causal Pathogenic evidence from ClinVar - ClinVar
OTOPALATODIGITAL SYNDROME, TYPE II C1844696 FLNA Causal Pathogenic evidence from ClinVar 12612583, 14988809, 15378534, 17431908, 27193221, 28425981 ClinVar