Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_assertion description "[Mutations in the gene encoding for acid ?-glucosidase (?-glucocerebrosidase, GlcCerase) are seen in Gaucher disease (GD), which give rise to significant protein misfolding effects and result in progressive accumulation of glucosyl ceramide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_assertion evidence source_evidence_literature NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_assertion SIO_000772 21457079 NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_assertion wasDerivedFrom befree-2016 NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_assertion wasGeneratedBy ECO_0000203 NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.
- befree-2016 importedOn "2016-02-19" NP883940.RAgNqFtn7uqRKKXyn3sYb4ef19Q1LklYOljUnrUvA4Ivc130_provenance.