@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:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_head { this: np:hasAssertion dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_assertion; np:hasProvenance dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_provenance; np:hasPublicationInfo dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_publicationInfo; a np:Nanopublication . dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_assertion a np:Assertion . dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_provenance a np:Provenance . dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_publicationInfo a np:PublicationInfo . } dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_assertion { miriam-gene:4524 a ncit:C16612 . lld:C0007222 a ncit:C7057 . dgn-gda:DGN0f7fb5289b21e336eb3aeead8c70c539 sio:SIO_000628 miriam-gene:4524, lld:C0007222; a sio:SIO_001122 . } dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_provenance { dgn-np:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_assertion dcterms:description "[A point mutation (C677T) in the gene encoding methylenetetrahydrofolate reductase, an enzyme involved in homocysteine remethylation, has been reported to render the enzyme thermolabile and less active and has been associated with elevated tHcy in homozygous carriers (+/+ genotype) as well as with increased risk of premature cardiovascular disease.]. 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:8873653; 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:NP1360390.RAhxXBPirf0Odsq0okiZczk9B_2vZCec9VPSbij4PUq9M130_publicationInfo { this: dcterms:created "2016-05-13T12:52:02+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" . }