DISEASES

Disease-gene associations mined from literature

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Human genes for erythropoietic protoporphyria

Erythropoietic protoporphyria [DOID:13270]

An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

Synonyms:  erythropoietic protoporphyria,  DOID:13270,  erythropoietic protoporphyrias,  EPP,  Protoporphyria ...

Linkouts:  OMIM #1 #2

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.