@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY> .
@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:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_head {
  this: np:hasAssertion dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion;
    np:hasProvenance dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_provenance;
    np:hasPublicationInfo dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion a np:Assertion .
  
  dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_provenance a np:Provenance .
  
  dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion {
  miriam-gene:84679 a ncit:C16612 .
  
  lld:C0034345 a ncit:C7057 .
  
  dgn-gda:DGN35b672b1748ae4f98ed215689f8c9f23 sio:SIO_000628 miriam-gene:84679, lld:C0034345;
    a sio:SIO_001121 .
}

dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_provenance {
  dgn-np:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_assertion dcterms:description
      "[Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes.]. 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:25818041;
    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:NP1274446.RAhMsCd4g0IfQj5FWe_Sj4Q7VppE4Da5bqQAzFtYRKfcY130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:24+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" .
}