Erythropoietic protoporphyria | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ERYTHROPOIETIC PROTOPORPHYRIA	C0162568	ALAS2	Unknown	—	Disgenet	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways +2 more
		AREG	Unknown	—	Disgenet	MAPK signaling pathway ErbB signaling pathway PI3K-Akt signaling pathway +19 more
		BTC	Unknown	—	Disgenet	ErbB signaling pathway Signaling by ERBB2 Signaling by ERBB4 +25 more
		CLPX	Unknown	—	Disgenet	—
		EREG	Unknown	—	Disgenet	MAPK signaling pathway ErbB signaling pathway PI3K-Akt signaling pathway +28 more
		FECH	Unknown	—	Disgenet	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +1 more
PROTOPORPHYRIA, ERYTHROPOIETIC	MESH:D046351	AREG	Unknown	19267999	CTD	MAPK signaling pathway ErbB signaling pathway PI3K-Akt signaling pathway +19 more
		BTC	Unknown	19267999	CTD	ErbB signaling pathway Signaling by ERBB2 Signaling by ERBB4 +25 more
		EREG	Unknown	19267999	CTD	MAPK signaling pathway ErbB signaling pathway PI3K-Akt signaling pathway +28 more
		FECH	Unknown	10464147 12950064 15284838 15793285 17600043 29906468	CTD	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +1 more
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED	300752 OMIM:300752	ALAS2	Unknown	—	CTD, HPO	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways +2 more
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT	C2677889	ALAS2	Unknown	—	Disgenet	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways +2 more