@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:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_head { this: np:hasAssertion dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_assertion; np:hasProvenance dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_provenance; np:hasPublicationInfo dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_publicationInfo; a np:Nanopublication . dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_assertion a np:Assertion . dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_provenance a np:Provenance . dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_assertion { miriam-gene:7389 a ncit:C16612 . lld:C0268323 a ncit:C7057 . dgn-gda:DGN9c96cf85e7acf289df533488154b6a04 sio:SIO_000628 miriam-gene:7389, lld:C0268323; a sio:SIO_001121 . } dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_provenance { dgn-np:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_assertion dcterms:description "[Subnormal activity of hepatic uroporphyrinogen decarboxylase is responsible for the derangement of porphyrin biosynthesis in both sporadic and familial porphyria cutanea tarda, but the enzymatic defect is not clinically expressed in the absence of hepatic siderosis.]. 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:3979748; 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:NP1304343.RABbN-uzafruGs-pwesEVQBmbJK6gpFR0ba43avMNj0B8130_publicationInfo { this: dcterms:created "2016-05-13T12:51:37+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" . }