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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
AURICULOCONDYLAR SYNDROME PLCB4 Causal GWAS catalog, Orphanet
Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME 1 GNAI3 Causal ClinVar, Disgenet, HPO, Orphanet, ClinGen
PLCB4 Causal — Disgenet
Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME 2 PLCB4 Causal ClinGen, ClinVar, GWAS catalog
Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME 3 EDN1 Causal ClinVar, Disgenet, GWAS catalog, HPO, ClinGen
All4 Causal3 Unknown4