@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE> .
@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:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_head {
  this: np:hasAssertion dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_assertion;
    np:hasProvenance dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_provenance;
    np:hasPublicationInfo dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_assertion a np:Assertion .
  
  dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_provenance a np:Provenance .
  
  dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_assertion {
  miriam-gene:5160 a ncit:C16612 .
  
  lld:C0034345 a ncit:C7057 .
  
  dgn-gda:DGN042d831df39654894766b249f472ea98 sio:SIO_000628 miriam-gene:5160, lld:C0034345;
    a sio:SIO_001121 .
}

dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_provenance {
  dgn-np:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_assertion dcterms:description
      "[Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition.]. 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:15473177;
    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:NP463693.RAV93K8t6cnEWhUn1ZDsxTH0u1MkMRYPMORFcjvoJ0pEE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:15+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" .
}