http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_head http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_provenance http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_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/C0014548 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/gene-disease-association.ttl#DGN8965496fdcc2e627727a5d3962644d2e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4200 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8965496fdcc2e627727a5d3962644d2e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014548 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8965496fdcc2e627727a5d3962644d2e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_provenance http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_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/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16049035 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/dc/terms/created 2014-10-02T12:36:52+02:00 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0