@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U> .
@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:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_head {
  this: np:hasAssertion dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_assertion;
    np:hasProvenance dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_provenance;
    np:hasPublicationInfo dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_assertion a np:Assertion .
  
  dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_provenance a np:Provenance .
  
  dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_assertion {
  miriam-gene:6323 a ncit:C16612 .
  
  lld:C0014544 a ncit:C7057 .
  
  dgn-gda:DGN9aa7dd5ef23b5cfd3df537df3f7cef6d sio:SIO_000628 miriam-gene:6323, lld:C0014544;
    a sio:SIO_001121 .
}

dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_provenance {
  dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_assertion dcterms:description
      "[In this case, the combination of de novo single nucleotide polymorphisms (SNPs) and CNVs in the SCN1A and KCNA1 genes, respectively, is suspected to be the principal risk factor for both epilepsy and premature death.]. 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:24372310;
    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:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:23+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" .
}