@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:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_head { this: np:hasAssertion dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion; np:hasProvenance dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance; np:hasPublicationInfo dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo; a np:Nanopublication . dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion a np:Assertion . dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance a np:Provenance . dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo a np:PublicationInfo . } dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion { miriam-gene:3242 a ncit:C16612 . lld:C0268490 a ncit:C7057 . dgn-gda:DGN3fdd38e12ddf87626f237007e9657e4c sio:SIO_000628 miriam-gene:3242, lld:C0268490; a sio:SIO_001121 . } dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance { dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_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-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:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo { this: dcterms:created "2014-10-02T12:34:08+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" . }