Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_assertion description "[Niemann-Pick type C1 disease (NPC1) is an autosomal recessive neurovisceral storage disease caused by the mutation of NPC1 gene, resulting in perturbed intracellular transport of unesterified cholesterol.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_assertion evidence source_evidence_literature NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_assertion SIO_000772 15099022 NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_assertion wasDerivedFrom befree-20140225 NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_assertion wasGeneratedBy ECO_0000203 NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP391696.RAfFS7rrBDGryDLzM4ElhsdqI65Rp_L2AIClGVPpBI6Cs130_provenance.