@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:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_head { this: np:hasAssertion dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion; np:hasProvenance dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_provenance; np:hasPublicationInfo dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_publicationInfo; a np:Nanopublication . dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion a np:Assertion . dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_provenance a np:Provenance . dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_publicationInfo a np:PublicationInfo . } dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion { miriam-gene:1178 a ncit:C16612 . lld:C1833683 a ncit:C7057 . dgn-gda:DGNd500f731ea0feac9958e4200151f5830 sio:SIO_000628 miriam-gene:1178, lld:C1833683; a sio:SIO_001121 . } dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_provenance { dgn-np:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion dcterms:description "[Human mutations in CLC channels are known to cause diseases as diverse as myotonia (muscle stiffness), Bartter syndrome (renal salt loss) with or without deafness, Dent's disease (proteinuria and kidney stones), osteopetrosis and neurodegeneration, and possibly epilepsy.]. 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:15709978; 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:NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_publicationInfo { this: dcterms:created "2015-08-25T14:40:41+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" . }