@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:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_head { this: np:hasAssertion dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion; np:hasProvenance dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_provenance; np:hasPublicationInfo dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_publicationInfo; a np:Nanopublication . dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion a np:Assertion . dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_provenance a np:Provenance . dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_publicationInfo a np:PublicationInfo . } dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion { miriam-gene:5251 a ncit:C16612 . lld:C0282529 a ncit:C7057 . dgn-gda:DGN10c15038eec28907f2318928083c6dce sio:SIO_000628 miriam-gene:5251, lld:C0282529; a sio:SIO_001121 . } dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_provenance { dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion dcterms:description "[Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects in PEX genes and the altering of their proteins, peroxins, which are necessary for the importation of targeted proteins into the peroxisomes.]. 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:10590918; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_publicationInfo { this: dcterms:created "2016-05-13T12:43:48+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }