http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_head http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_assertion http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_provenance http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_assertion http://identifiers.org/ncbigene/4200 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/C0270853 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/DGN997c101b040597575865851b4a00b25d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4200 http://rdf.disgenet.org/resource/gda/DGN997c101b040597575865851b4a00b25d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270853 http://rdf.disgenet.org/resource/gda/DGN997c101b040597575865851b4a00b25d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_provenance http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_assertion http://purl.org/dc/terms/description [Mutations in the EFHC1 gene (unknown function) occur in other rare JME families, and yet in other families, associations are present between JME (or other generalized epilepsies) and single nucleotide polymorphisms in the BRD2 gene (unknown function) and the malic enzyme 2 (ME2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_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/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16049035 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_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/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/dc/terms/created 2016-05-13T12:45:34+02:00 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP506021.RAozUzdpNopsamH0Aw00x-V3nSAHRiyag0mEIu3YANgH0 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