http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_head http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_provenance http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://identifiers.org/ncbigene/2539 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/C0002878 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/DGN767807a8c5890cfe6b4b061ee0adf850 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2539 http://rdf.disgenet.org/resource/gda/DGN767807a8c5890cfe6b4b061ee0adf850 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0002878 http://rdf.disgenet.org/resource/gda/DGN767807a8c5890cfe6b4b061ee0adf850 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_provenance http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://purl.org/dc/terms/description [Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11916749 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/dc/terms/created 2016-05-13T12:44:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP349474.RAkLoBtl-qUZhTx3Wwj_u_KU5Ad7HltsCJbumesyKTVXc http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0