@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:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_head { this: np:hasAssertion dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_assertion; np:hasProvenance dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_provenance; np:hasPublicationInfo dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_publicationInfo; a np:Nanopublication . dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_assertion a np:Assertion . dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_provenance a np:Provenance . dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_publicationInfo a np:PublicationInfo . } dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_assertion { miriam-gene:3081 a ncit:C16612 . lld:C0028817 a ncit:C7057 . dgn-gda:DGNf5ac3a946fc84400ca325b1f07ab9b7f sio:SIO_000628 miriam-gene:3081, lld:C0028817; a sio:SIO_001121 . } dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_provenance { dgn-np:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_assertion dcterms:description "[Patients with alkaptonuria lack homogentisate 1,2-dioxygenase leading to retention of homogentistic acid (HGA) in body fluids and eventually to tissue deposition of oxidation products, giving rise to the clinical picture of ochronosis.]. 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:3180550; 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:NP492247.RAA9nkl696zArkBE6Reg0Lby2O4XuqHaPUwb_rdSJW1mY130_publicationInfo { this: dcterms:created "2014-10-02T12:36:54+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" . }