@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs> .
@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:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_head {
  this: np:hasAssertion dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_assertion;
    np:hasProvenance dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_provenance;
    np:hasPublicationInfo dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_assertion a np:Assertion .
  
  dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_provenance a np:Provenance .
  
  dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_assertion {
  miriam-gene:538 a ncit:C16612 .
  
  lld:C0026848 a ncit:C7057 .
  
  dgn-gda:DGN275443f4eee910d236c60176820476ab sio:SIO_000628 miriam-gene:538, lld:C0026848;
    a sio:SIO_001121 .
}

dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_provenance {
  dgn-np:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_assertion dcterms:description
      "[Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM) are now known to be the same disease and are caused by mutations in tile GNE gene that encodes a bifunctional protein with two enzymatic activities: UDP-GlcNAc2-epimerase (GNE) and ManNAc kinase (MNK).]. 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:16550921;
    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:NP701640.RAETOKfseYfPFvin7X4gsUN8kQEH27ucAd9AdBE-YOxVs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:06+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" .
}