@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:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_head { this: np:hasAssertion dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_assertion; np:hasProvenance dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_provenance; np:hasPublicationInfo dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_publicationInfo; a np:Nanopublication . dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_assertion a np:Assertion . dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_provenance a np:Provenance . dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_publicationInfo a np:PublicationInfo . } dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_assertion { miriam-gene:2184 a ncit:C16612 . lld:C0268490 a ncit:C7057 . dgn-gda:DGN1923ad10d1aac3e1bce4fe07a2562f7f sio:SIO_000628 miriam-gene:2184, lld:C0268490; a sio:SIO_001121 . } dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_provenance { dgn-np:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_assertion dcterms:description "[The severe type I tyrosinemia, caused by a deficiency of fumarylacetoacetate hydrolase which functions downstream of HPD in the tyrosine degradation pathway, is often associated with decreased expression of HPD, and interestingly, inhibition of HPD activity seems to ameliorate the clinical symptoms of type I tyrosinemia.]. 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:12127941; 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:NP361989.RAGJ91eMhuT97vS9fg3QZcoYZgP0n3VIWfpoLAptRWfb0130_publicationInfo { this: dcterms:created "2016-05-13T12:44:29+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" . }