@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:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_head { this: np:hasAssertion dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_assertion; np:hasProvenance dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_provenance; np:hasPublicationInfo dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_publicationInfo; a np:Nanopublication . dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_assertion a np:Assertion . dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_provenance a np:Provenance . dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_publicationInfo a np:PublicationInfo . } dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_assertion { miriam-gene:4287 a ncit:C16612 . lld:C0024408 a ncit:C7057 . dgn-gda:DGN0c42658c74c261bd6460b6eb15875cae sio:SIO_000628 miriam-gene:4287, lld:C0024408; a sio:SIO_001121 . } dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_provenance { dgn-np:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_assertion dcterms:description "[Machado-Joseph disease (MJD), one of the most common types of hereditary spinocerebellar degeneration caused by abnormal expansion of the CAG repeat in the MJD1 gene, presents atrophy of the infratentorial structures neuropathologically and neuroradiologically.]. 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:18042234; 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:NP167991.RACy8CnyOh-GXMgkJGY5rYGAQvBINHJxp1ElmpJcGiZBc130_publicationInfo { this: dcterms:created "2014-10-02T12:33:31+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" . }