@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_head {
  this: np:hasAssertion dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_assertion;
    np:hasProvenance dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_provenance;
    np:hasPublicationInfo dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_assertion a np:Assertion .
  
  dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_provenance a np:Provenance .
  
  dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_assertion {
  miriam-gene:2548 a ncit:C16612 .
  
  lld:C1285162 a ncit:C7057 .
  
  dgn-gda:DGNf7731fa2ab4fbd94e7c5ac45aca0799f sio:SIO_000628 miriam-gene:2548, lld:C1285162;
    a sio:SIO_001121 .
}

dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_provenance {
  dgn-np:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_assertion dcterms:description
      "[Friedreich's ataxia (FRDA), the autosomal recessive degenerative disorder of nervous and muscles tissue, is caused by the massive expansion of (GAA) repeats that occur in the first intron of Frataxin gene X25 on chromosome 9q13-q21.1.]. 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:22750988;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP552058.RAxXYaF_FOqmYLivcKBU7Nl8WsYqtNJmkF2NaPjviwjBM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:33+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}