Disease Term Disease ID Gene Symbol Classification References Source
Otofaciocervical syndrome 2792 EYA1 Causal Pathogenic evidence from ClinVar - ClinVar
PAX1 Causal Pathogenic evidence from ClinVar - ClinVar
Otofaciocervical Syndrome C1833691 EYA1 Causal Pathogenic evidence from ClinVar 9603436, 16441263 ClinVar
PAX1 Causal Pathogenic evidence from ClinVar 23851939 ClinVar
OTOFACIOCERVICAL SYNDROME 1 C3714941 EYA1 Causal Pathogenic evidence from ClinVar 9603436, 16441263 ClinVar
OTOFACIOCERVICAL SYNDROME 2 C3714942 PAX1 Causal Pathogenic evidence from ClinVar 23851939 ClinVar