@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:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_head { this: np:hasAssertion dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_assertion; np:hasProvenance dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_provenance; np:hasPublicationInfo dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_publicationInfo; a np:Nanopublication . dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_assertion a np:Assertion . dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_provenance a np:Provenance . dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_publicationInfo a np:PublicationInfo . } dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_assertion { miriam-gene:1356 a ncit:C16612 . lld:C0019202 a ncit:C7057 . dgn-gda:DGN8a31b2f6804f9ed455581105303edb09 sio:SIO_000628 miriam-gene:1356, lld:C0019202; a sio:SIO_001121 . } dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_provenance { dgn-np:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_assertion dcterms:description "[Wilson disease (WND), an autosomal recessive disorder of copper transport, is characterized by excessive accumulation of intracellular copper in liver and extrahepatic tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin.]. 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:17587212; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP205624.RAtSkO2YD256gku0U7k8dvgruJT6A_-8-E33EWiybhvNI130_publicationInfo { this: dcterms:created "2014-10-02T12:33:53+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }