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- source_evidence_literature type ECO_0000212 NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- befree-2016 importedOn "2016-02-19" NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_assertion wasGeneratedBy ECO_0000203 NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_assertion wasDerivedFrom befree-2016 NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_assertion SIO_000772 12044915 NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_assertion evidence source_evidence_literature NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.
- NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_assertion description "[Mutations in the StAR gene were found to be the cause of the potentially lethal disease in humans known as congenital lipoid adrenal hyperplasia (lipoid CAH), a condition characterized by an almost complete inability of the newborn to synthesize steroids.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356719.RASes-ZSnVrUtHY7aLGAtMg5DUjtWxsavx52vg1gIZBCM130_provenance.