Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_assertion description "[Inherited mutations of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8), give rise to Lesch-Nyhan syndrome or HPRT-related gout.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_assertion evidence source_evidence_curated NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_assertion SIO_000772 17027311 NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_assertion wasDerivedFrom uniprot-2016 NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_assertion wasGeneratedBy ECO_0000218 NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4722.RAeFal6mCwN8R6ZyO4uwcEoqqnb55nxegeeYNOmzpbn8k130_provenance.