@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:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_head { this: np:hasAssertion dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_assertion; np:hasProvenance dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_provenance; np:hasPublicationInfo dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_publicationInfo; a np:Nanopublication . dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_assertion a np:Assertion . dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_provenance a np:Provenance . dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_publicationInfo a np:PublicationInfo . } dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_assertion { miriam-gene:100329167 a ncit:C16612 . lld:C0043459 a ncit:C7057 . dgn-gda:DGNdbb45f9023f83f2b66851522d4beea1f sio:SIO_000628 miriam-gene:100329167, lld:C0043459; a sio:SIO_001121 . } dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_provenance { dgn-np:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_assertion dcterms:description "[The PEX1 gene, which encodes a cytoplasmic AAA ATPase, is the responsible gene in more than half of the Zellweger syndrome spectrum patients, and mutations in PEX1 can account for the full spectrum of phenotypes seen in these patients.]. 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:10480353; 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:NP681495.RA9uMIfaXlK-Ce1BlaGyFqdTLmuBobZRXe4r0iHRXeHxE130_publicationInfo { this: dcterms:created "2014-10-02T12:38:51+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" . }