Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_assertion description "[The R453Q variant in the hexose-6-phosphate dehydrogenase gene (H6PD) and 83557insA mutations in 11beta-hydroxysteroid dehydrogenase (11betaHSD) type 1 gene (HSD11B1) interact, resulting in cortisone reductase deficiency (CRD), a rare disorder characterized by a polycystic ovary syndrome (PCOS)-like phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_assertion evidence source_evidence_literature NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_assertion SIO_000772 15827106 NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_assertion wasDerivedFrom befree-20140225 NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_assertion wasGeneratedBy ECO_0000203 NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.
- befree-20140225 importedOn "2014-02-25" NP615856.RAkqc2xLef8MshAZle_URDEm5ISLtUubGd5n2VBubNato130_provenance.