Disease Term Disease ID Gene Symbol Classification References Source
AURICULO-CONDYLAR SYNDROME EDN1 Unknown CTD Disgenet
GNAI3 Unknown CTD Disgenet
PLCB4 Unknown CTD Disgenet
AURICULOCONDYLAR SYNDROME PLCB4 Causal GWAS catalog Orphanet
EDN1 Unknown CTD Orphanet
GNAI3 Unknown ClinVar Orphanet
HDAC9 Unknown ClinGen
AURICULOCONDYLAR SYNDROME 1 GNAI3 Causal ClinVar Disgenet HPO Orphanet
PLCB4 Causal Disgenet
AURICULOCONDYLAR SYNDROME 2 PLCB4 Causal ClinGen ClinVar GWAS catalog
AURICULOCONDYLAR SYNDROME 2A PLCB4 Unknown Disgenet HPO
AURICULOCONDYLAR SYNDROME 2B PLCB4 Unknown ClinVar Disgenet HPO
AURICULOCONDYLAR SYNDROME 3 EDN1 Causal ClinVar Disgenet GWAS catalog HPO
AURICULOCONDYLAR SYNDROME 4 HDAC9 Unknown ClinVar Disgenet GenCC HPO