. . . . . . . . . . . . "[Mutations in the encoding gene have been confirmed as the basis of endocrine disease in the case of all of the adrenal steroidogenic enzymes required for synthesis of cortisol but one (cholesterol desmolase).]. 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 . "2014-10-02T12:41:26+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .