Erythropoietic protoporphyria | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA	79278 MONDO:0019263	FECH	Causal	23016163	GWAS catalog, Orphanet	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +1 more
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, 1	177000 C4692546 MONDO:0008319	FECH	Causal	12601550 11375302 7910885 9740232 8757534 1755842 9211198 1376018 17196862 9585598 15286165 12063482 10942404	ClinGen, ClinVar, Disgenet, GenCC, HPO	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +1 more
PROTOPORPHYRIA, ERYTHROPOIETIC, 2	618015 C4693947 MONDO:0060729	CLPX	Causal	28874591	ClinVar, Disgenet, GWAS catalog, HPO	—
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