@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:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_head { this: np:hasAssertion dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_assertion; np:hasProvenance dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_provenance; np:hasPublicationInfo dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_publicationInfo; a np:Nanopublication . dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_assertion a np:Assertion . dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_provenance a np:Provenance . dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_publicationInfo a np:PublicationInfo . } dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_assertion { miriam-gene:7080 a ncit:C16612 . lld:C0699734 a ncit:C7057 . dgn-gda:DGN159279167a507ee1de72c51ea3e651e1 sio:SIO_000628 miriam-gene:7080, lld:C0699734; a sio:SIO_001121 . } dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_provenance { dgn-np:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_assertion dcterms:description "[Mutations in the NKX2.1 gene, which is essential for the development, differentiation and organization of the basal ganglia, cause benign hereditary chorea (BHC) characterized by childhood-onset non-progressive chorea.]. 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:22825795; 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:NP920120.RAM0OrpChiA-v7RDtE4c4xRZfjMGg5Wrhii7lCm2x0VoA130_publicationInfo { this: dcterms:created "2014-10-02T12:41:24+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" . }