Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_assertion description "[Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by virtually complete deficiency of activity of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT; EC 2.4.2.8).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_assertion evidence source_evidence_literature NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_assertion SIO_000772 16343967 NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_assertion wasDerivedFrom befree-20140225 NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_assertion wasGeneratedBy ECO_0000203 NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP394543.RAABsJ3Xq8nYfp0CDGKuGDngS2tE0L77ZTzuKp3xTMelE130_provenance.