@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU> .
@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/v3.0.0/void/> .

dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_head {
  this: np:hasAssertion dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_assertion;
    np:hasProvenance dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_provenance;
    np:hasPublicationInfo dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_assertion a np:Assertion .
  
  dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_provenance a np:Provenance .
  
  dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_assertion {
  miriam-gene:6323 a ncit:C16612 .
  
  lld:C0014544 a ncit:C7057 .
  
  dgn-gda:DGN23257fc89dd4a900d266a17d525b7640 sio:SIO_000628 miriam-gene:6323, lld:C0014544;
    a sio:SIO_001121 .
}

dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_provenance {
  dgn-np:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_assertion dcterms:description
      "[Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS+) to the severe infant-onset epilepsy Dravet syndrome.]. 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:24836964;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP682383.RADG5zm3b0NmYtn572qwG1Zzr2FcVkjz0mrOP_YL1n2KU130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:31+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}