Auriculocondylar syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AURICULO-CONDYLAR SYNDROME	C1865295 MESH:C538270	EDN1	Unknown	—	CTD, Disgenet	cAMP signaling pathway HIF-1 signaling pathway Neuroactive ligand-receptor interaction +11 more
		GNAI3	Unknown	—	CTD, Disgenet	Rap1 signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +46 more
		PLCB4	Unknown	—	CTD, Disgenet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME	137888 MONDO:0000107	PLCB4	Causal	22560091	GWAS catalog, Orphanet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
		EDN1	Unknown	24268655	CTD, Orphanet	cAMP signaling pathway HIF-1 signaling pathway Neuroactive ligand-receptor interaction +11 more
		GNAI3	Unknown	22560091	ClinVar, Orphanet	Rap1 signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +46 more
		HDAC9	Unknown	—	ClinGen	Neutrophil extracellular trap formation Alcoholism Viral carcinogenesis +3 more
AURICULOCONDYLAR SYNDROME 1	602483 C4551996 MONDO:0011234	GNAI3	Causal	11102934	ClinVar, Disgenet, HPO, Orphanet, ClinGen	Rap1 signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +46 more
AURICULOCONDYLAR SYNDROME 1	602483 C4551996 MONDO:0011234	PLCB4	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME 2	MONDO:0013845	PLCB4	Causal	22560091 23315542 24123988 32201334 23913798 16114046 27007857	ClinGen, ClinVar, GWAS catalog	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME 2A	614669 C3553404	PLCB4	Unknown	—	Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME 2B	620458 C5830664 MONDO:0957544	PLCB4	Unknown	22560091 23315542 28328130 35170830	ClinVar, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
AURICULOCONDYLAR SYNDROME 3	615706 C3810332 MONDO:0014312	EDN1	Causal	24268655 8152482	ClinVar, Disgenet, GWAS catalog, HPO, ClinGen	cAMP signaling pathway HIF-1 signaling pathway Neuroactive ligand-receptor interaction +11 more
AURICULOCONDYLAR SYNDROME 4	620457 C5830659 MONDO:0957543	HDAC9	Unknown	—	ClinVar, Disgenet, GenCC, HPO	Neutrophil extracellular trap formation Alcoholism Viral carcinogenesis +3 more