@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc> .
@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:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_head {
  this: np:hasAssertion dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion;
    np:hasProvenance dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance;
    np:hasPublicationInfo dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion a np:Assertion .
  
  dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance a np:Provenance .
  
  dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion {
  miriam-gene:170302 a ncit:C16612 .
  
  lld:C0025362 a ncit:C7057 .
  
  dgn-gda:DGN9998df8ed8e90aa21b15c54c2dc7ffc6 sio:SIO_000628 miriam-gene:170302, lld:C0025362;
    a sio:SIO_001121 .
}

dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance {
  dgn-np:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion dcterms:description
      "[Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.]. 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:15376319;
    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:NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:13+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" .
}