Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_assertion description "[The functional activity of lysosomal enzymes sialidase, ?-galactosidase and N-acetylaminogalacto-6-sulfate-sulfatase in the cell depends on their association in a multienzyme complex with cathepsin A. Mutations in any of the components of this complex result in functional deficiency thereby causing severe lysosomal storage disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_assertion evidence source_evidence_literature NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_assertion SIO_000772 21214877 NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_assertion wasDerivedFrom befree-2016 NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_assertion wasGeneratedBy ECO_0000203 NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.
- befree-2016 importedOn "2016-02-19" NP863808.RA8EzLHrD79epsA4fc2ZO_N3pD4487R5WvQnto2VPTQG0130_provenance.