@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_head { this: np:hasAssertion dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_assertion; np:hasProvenance dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_provenance; np:hasPublicationInfo dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_publicationInfo; a np:Nanopublication . dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_assertion a np:Assertion . dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_provenance a np:Provenance . dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_assertion { miriam-gene:3988 a ncit:C16612 . lld:C0008384 a ncit:C7057 . dgn-gda:DGN4aa6c56e6c0aa02b527849af374b53fb sio:SIO_000628 miriam-gene:3988, lld:C0008384; a sio:SIO_001121 . } dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_provenance { dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_assertion dcterms:description "[Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:23485521; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP536887.RAeUiMjMAOFha6KSlDFEpTfN6dtg3IX7LsjNFiJHA4D8Q130_publicationInfo { this: dcterms:created "2015-08-25T14:42:57+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }