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- source_evidence_literature type ECO_0000212 NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_assertion description "[P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant, skeletal malformations and severe genital ambiguity in both sexes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_assertion evidence source_evidence_literature NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_assertion SIO_000772 17223983 NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_assertion wasDerivedFrom befree-20140225 NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_assertion wasGeneratedBy ECO_0000203 NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP344975.RAiv-ax6SjB7Xj0SjRTrlye9JLpANsYvL3S0BnwgT4AFo130_provenance.