Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_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." NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_assertion evidence source_evidence_literature NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_assertion SIO_000772 15827106 NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_assertion wasDerivedFrom gad-20150221 NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_assertion wasGeneratedBy ECO_0000203 NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.
- gad-20150221 importedOn "2015-02-21" NP50316.RAbKdw-fSGKjnvVcfrFj79BhObvYmMpSg7_xYpo-GkzXg130_provenance.