@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:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_head { this: np:hasAssertion dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_assertion; np:hasProvenance dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_provenance; np:hasPublicationInfo dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_publicationInfo; a np:Nanopublication . dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_assertion a np:Assertion . dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_provenance a np:Provenance . dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_publicationInfo a np:PublicationInfo . } dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_assertion { miriam-gene:4524 a ncit:C16612 . lld:C0598608 a ncit:C7057 . dgn-gda:DGN64a0da3d72a5e6040fec4cb3c73eac7f sio:SIO_000628 miriam-gene:4524, lld:C0598608; a sio:SIO_001122 . } dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_provenance { dgn-np:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_assertion dcterms:description "[A common mutation (C677T) in the gene encoding for methylenetetrahydrofolate reductase (MTHFR) is responsible, in the homozygous state, for decreased enzyme activity and mild hyperhomocysteinemia and is associated with increased risk for 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:9327760; 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:NP1381789.RASw3dBtZZhQ7_TOXNiSJsJwIpBO5EFnoeQE6pIEHrJSo130_publicationInfo { this: dcterms:created "2016-05-13T12:52:12+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" . }