http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_head http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_provenance http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion http://identifiers.org/ncbigene/114327 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/DGNd5c495f197ddf9f8c00ec5a24b4363c3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/114327 http://rdf.disgenet.org/resource/gda/DGNd5c495f197ddf9f8c00ec5a24b4363c3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270853 http://rdf.disgenet.org/resource/gda/DGNd5c495f197ddf9f8c00ec5a24b4363c3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_provenance http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_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/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_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/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16278970 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_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/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/dc/terms/created 2016-05-13T12:45:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg 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