@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU> .
@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:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_head {
  this: np:hasAssertion dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion;
    np:hasProvenance dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_provenance;
    np:hasPublicationInfo dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion a np:Assertion .
  
  dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_provenance a np:Provenance .
  
  dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion {
  miriam-gene:2548 a ncit:C16612 .
  
  lld:C0016719 a ncit:C7057 .
  
  dgn-gda:DGN5b6e6ce4a5fad31bacc2bbf9cfe3bc25 sio:SIO_000628 miriam-gene:2548, lld:C0016719;
    a sio:SIO_001121 .
}

dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_provenance {
  dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion dcterms:description
      "[Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosome 9q13, or, rarely, by point mutations in the frataxin gene.]. 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:9331900;
    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:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:12+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" .
}