http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_head http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_provenance http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://identifiers.org/ncbigene/4552 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0013080 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNb18c72de067f2de00d86acfec8803153 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4552 http://rdf.disgenet.org/resource/gda/DGNb18c72de067f2de00d86acfec8803153 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013080 http://rdf.disgenet.org/resource/gda/DGNb18c72de067f2de00d86acfec8803153 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_provenance http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://purl.org/dc/terms/description [In a group of 121 case families (mother, father, and proband with DS and AVSD) and 122 control families (mother, father, and proband with DS and no CHD), tag SNPs were genotyped in and around five folate pathway genes: 5,10-methylenetetrahyrdofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystathionine beta-synthase (CBS), and the reduced folate carrier (SLC19A1, RFC1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20718043 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://purl.org/pav/importedOn 2015-02-21 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/dc/terms/created 2015-08-25T14:38:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP68074.RALGUABurzd2ZkyhgC2Zo7HPX-9kieAOiCKqM96Yb5MIA http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0