@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:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_head { this: np:hasAssertion dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_assertion; np:hasProvenance dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_provenance; np:hasPublicationInfo dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_publicationInfo; a np:Nanopublication . dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_assertion a np:Assertion . dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_provenance a np:Provenance . dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_assertion { miriam-gene:215 a ncit:C16612 . lld:C0524851 a ncit:C7057 . dgn-gda:DGNde9ded540994c2666234d2eed3a6200b sio:SIO_000628 miriam-gene:215, lld:C0524851; a sio:SIO_001121 . } dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_provenance { dgn-np:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_assertion dcterms:description "[X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease caused by loss of function of the peroxisomal transporter ABCD1 (ALD), which results in accumulation of very long chain fatty acids (VLCFAs) in organs and serum, central demyelination and peripheral axonopathy and Addison's disease.]. 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:15489218; 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:NP246352.RAja5GqXLfvC40-82bMrvM7SMeeApLyR5mxv50uG2m4wQ130_publicationInfo { this: dcterms:created "2014-10-02T12:34:18+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" . }