. . . . . . . . . . . . "[A syndrome with a remarkably similar biochemical phenotype, namely, X-linked hypophosphatemic rickets (XLH), also has a circulating factor with properties similar, if not identical, to those of the tumor-derived factor, `phosphatonin.` The molecular defect in XLH has been shown to be due to a mutant endopeptidase, PHEX, whose substrate might be `phosphatonin.` Hypophosphatemia and other biochemical abnormalities in TIO are due to excessive production of `phosphatonin` with normal PHEX function, whereas the biochemical abnormalities in XLH are caused by a mutant PHEX enzyme that fails to process `phosphatonin.`]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:37:42+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .