@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:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_head { this: np:hasAssertion dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_assertion; np:hasProvenance dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_provenance; np:hasPublicationInfo dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_publicationInfo; a np:Nanopublication . dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_assertion a np:Assertion . dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_provenance a np:Provenance . dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_publicationInfo a np:PublicationInfo . } dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_assertion { miriam-gene:5376 a ncit:C16612 . lld:C0393814 a ncit:C7057 . dgn-gda:DGN1bbbbcee9d5919356764d9296f9d9efd sio:SIO_000628 miriam-gene:5376, lld:C0393814; a sio:SIO_001121 . } dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_provenance { dgn-np:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_assertion dcterms:description "[Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene.]. 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:24878226; 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:NP1186889.RACNZYQ9ULwBKN8IWQqw-iOVP9n5fcjPjgI-CJ_RQkB5s130_publicationInfo { this: dcterms:created "2016-05-13T12:50:44+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" . }