Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_assertion description "[The autosomal recessive disorder primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific pyridoxal-phosphate-dependent enzyme alanine:glyoxylate aminotransferase (AGT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_assertion evidence source_evidence_curated NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_assertion SIO_000772 10960483 NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_assertion wasDerivedFrom uniprot-20130724 NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_assertion wasGeneratedBy ECO_0000218 NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP256.RAmcYk4SbZ1DA8qPoA0GDt2fAJSs9y0P6JniEo7TOsqms130_provenance.