@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_head {
  this: np:hasAssertion dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion;
    np:hasProvenance dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_provenance;
    np:hasPublicationInfo dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion a np:Assertion .
  
  dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_provenance a np:Provenance .
  
  dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion {
  miriam-gene:3785 a ncit:C16612 .
  
  lld:C1852581 a ncit:C7057 .
  
  dgn-gda:DGNfcd31590c256e5900e0e246209f6858f sio:SIO_000628 miriam-gene:3785, lld:C1852581;
    a sio:SIO_001121 .
}

dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_provenance {
  dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion dcterms:description
      "[Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:25524373;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:12+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetv3.0rdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}