@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:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_head { this: np:hasAssertion dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_assertion; np:hasProvenance dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_provenance; np:hasPublicationInfo dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_publicationInfo; a np:Nanopublication . dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_assertion a np:Assertion . dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_provenance a np:Provenance . dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_publicationInfo a np:PublicationInfo . } dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_assertion { miriam-gene:540 a ncit:C16612 . lld:C0019202 a ncit:C7057 . dgn-gda:DGN0df7b49a4192dace1423ca46cb25ea7a sio:SIO_000628 miriam-gene:540, lld:C0019202; a sio:SIO_001121 . } dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_provenance { dgn-np:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_assertion dcterms:description "[Wilson disease (WD) is an autosomal recessive disorder due to the defect in ATP7B gene characterized by excessive accumulation of copper in the liver with progressive hepatic damage and subsequent redistribution to various extrahepatic tissues including the brain, kidneys, and cornea.]. 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:16549536; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP541137.RAY8I9ni0gA6orH_S5GIIY8V6Vyu9_b-FOFHHhTqEjlWs130_publicationInfo { this: dcterms:created "2016-05-13T12:45:50+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }