[Congenital erythropoietic porphyria (CEP) is a rare inborn error of metabolism that results from a deficient activity of uroporphyrinogen III synthase (URO-synthase).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE