@prefix dc: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_head { this: np:hasAssertion dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_assertion; np:hasProvenance dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_provenance; np:hasPublicationInfo dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_publicationInfo; a np:Nanopublication . dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_assertion a np:Assertion . dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_provenance a np:Provenance . dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_assertion { miriam-gene:3251 a ncit:C16612 . lld:C0268117 a ncit:C7057 . dgn-gda:DGNe939792f5ce22f73ea40bdfc2845d576 sio:SIO_000628 miriam-gene:3251, lld:C0268117; a sio:SIO_001122 . } dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_provenance { dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_assertion dc:description "[Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).]. 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:2909537; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_publicationInfo { this: dc:created "2014-10-02T12:31:59+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc: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" . }