Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_assertion description "[Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_assertion evidence source_evidence_curated NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_assertion SIO_000772 10958654 NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_assertion wasDerivedFrom ctd_human-2016 NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_assertion wasGeneratedBy ECO_0000218 NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP10909.RAw1PaEpw6wIOX086M6w7MtpLXmA6l51Lgvan8YoUsEMM130_provenance.