Disease Term Disease ID Gene Symbol Classification References Source
Auriculo-condylar syndrome C1865295 EDN1 Causal Pathogenic evidence from ClinVar 24268655 ClinVar
GNAI3 Causal Pathogenic evidence from ClinVar 22560091 ClinVar
PLCB4 Causal Pathogenic evidence from ClinVar 22560091 ClinVar
Auriculocondylar syndrome 137888 EDN1 Causal Pathogenic evidence from ClinVar - ClinVar
GNAI3 Causal Pathogenic evidence from ClinVar - ClinVar
PLCB4 Causal Pathogenic evidence from ClinVar - ClinVar
Auriculocondylar syndrome 1 C4551996 EDN1 Causal Pathogenic evidence from ClinVar 24268655 ClinVar
GNAI3 Causal Pathogenic evidence from ClinVar 7698751, 11102934, 22560091, 27607449 ClinVar
PLCB4 Causal Pathogenic evidence from ClinVar 22560091 ClinVar
AURICULOCONDYLAR SYNDROME 3 C3810332 EDN1 Causal Pathogenic evidence from ClinVar 24268655 ClinVar
AURICULOCONDYLAR SYNDROME 2 C3553404 PLCB4 Causal Pathogenic evidence from ClinVar 22560091, 23315542 ClinVar