Erythropoietic protoporphyria

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA
79278MONDO:0019263
FECH Causal
23016163
GWAS catalog, Orphanet
PROTOPORPHYRIA, ERYTHROPOIETIC, 1
177000C4692546MONDO:0008319
FECH Causal
12601550 11375302 7910885 9740232 8757534 1755842 9211198 1376018 17196862 9585598 15286165 12063482 10942404
ClinGen, ClinVar, Disgenet, GenCC, HPO
PROTOPORPHYRIA, ERYTHROPOIETIC, 2
618015C4693947MONDO:0060729
CLPX Causal
28874591
ClinVar, Disgenet, GWAS catalog, HPO —
All6 Causal2 Unknown6
Related Diseases Diseases that share the most curated genes with Erythropoietic protoporphyria.
5 View disease cluster →
X-linked erythropoietic protoporphyria 1 shared geneALAS2 Related via 1 shared gene including ALAS2. Porphyria 2 shared genesALAS2, FECH Related via 2 shared genes including ALAS2, FECH. Bile duct disease 1 shared geneFECH Related via 1 shared gene including FECH. X-linked sideroblastic anemia 1 shared geneALAS2 Related via 1 shared gene including ALAS2. Bronchopneumonia 1 shared geneBTC Related via 1 shared gene including BTC.