@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:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_head { this: np:hasAssertion dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_assertion; np:hasProvenance dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_provenance; np:hasPublicationInfo dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_publicationInfo; a np:Nanopublication . dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_assertion a np:Assertion . dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_provenance a np:Provenance . dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_publicationInfo a np:PublicationInfo . } dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_assertion { miriam-gene:5194 a ncit:C16612 . lld:C1832200 a ncit:C7057 . dgn-gda:DGN45b8cf87f73957495c80d5cbe10215c4 sio:SIO_000628 miriam-gene:5194, lld:C1832200; a sio:SIO_001121 . } dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_provenance { dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_assertion dcterms:description "[One of the milder clinical variants within the PBDs is neonatal adrenoleukodystrophy (NALD), a disease that is usually associated with partial defects in the import of peroxisomal matrix proteins that carry the type 1 or type 2 peroxisomal targeting signals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:10441568; prov:wasDerivedFrom dgn-void:ctd_human-20130708; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP25765.RAj-CLmFDt0jiZBuqxou-trY8eZMIG7-CERxf8vZXwX14130_publicationInfo { this: dcterms:created "2014-10-02T12:32:10+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" . }