http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_head http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_assertion http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_provenance http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_assertion http://identifiers.org/ncbigene/6046 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/resource/gda/DGNc0a7499dd4a20a7b2ee81b36188f4de1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6046 http://rdf.disgenet.org/resource/gda/DGNc0a7499dd4a20a7b2ee81b36188f4de1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014548 http://rdf.disgenet.org/resource/gda/DGNc0a7499dd4a20a7b2ee81b36188f4de1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_provenance http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_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/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_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/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16049035 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 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/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/dc/terms/created 2015-08-25T14:44:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP673242.RAjKtJO6TD8ktPOLVL_sm5YFZr8B79DnsVzCLmfV6k4TA 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