@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:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_head { this: np:hasAssertion dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_assertion; np:hasProvenance dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_provenance; np:hasPublicationInfo dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_publicationInfo; a np:Nanopublication . dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_assertion a np:Assertion . dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_provenance a np:Provenance . dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_publicationInfo a np:PublicationInfo . } dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_assertion { miriam-gene:80025 a ncit:C16612 . lld:C0393593 a ncit:C7057 . dgn-gda:DGN750ccd6441be9332ba1a00620f58c6d1 sio:SIO_000628 miriam-gene:80025, lld:C0393593; a sio:SIO_001121 . } dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_provenance { dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_assertion dcterms:description "[Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive (AR) disorder characterized by motor symptoms as such as dystonia or parkinsonism, mental retardation, retinitis pigmentosa and iron accumulation in the brain.]. 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:16962235; 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:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_publicationInfo { this: dcterms:created "2014-10-02T12:37:49+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" . }