http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#head http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#assertion http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#provenance http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#assertion http://rdf.disgenet.org/resource/gda/DGN2d1e7687762b46c7777017dcdf6a9246 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4524 http://rdf.disgenet.org/resource/gda/DGN2d1e7687762b46c7777017dcdf6a9246 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007222 http://rdf.disgenet.org/resource/gda/DGN2d1e7687762b46c7777017dcdf6a9246 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#provenance http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8873653 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/dc/terms/created 2017-10-17T13:14:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP721526.RAvPX-evAXvSX-nhKJLWQk8STayHv5YSsFFb5-B_VJ7Rg http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0