@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k> .
@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:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_head {
  this: np:hasAssertion dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion;
    np:hasProvenance dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_provenance;
    np:hasPublicationInfo dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion a np:Assertion .
  
  dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_provenance a np:Provenance .
  
  dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion {
  miriam-gene:2132 a ncit:C16612 .
  
  lld:C0263661 a ncit:C7057 .
  
  dgn-gda:DGN0c8e28c434bb9ac130f8ea0ceded0b7a sio:SIO_000628 miriam-gene:2132, lld:C0263661;
    a sio:SIO_001121 .
}

dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_provenance {
  dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion dcterms:description
      "[Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder most frequently caused by the EXT1 and EXT2 gene mutations resulting in reduction or absence of heparan sulfate (HS) in the exostotic cartilage cap.]. 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:19839753;
    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:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:39+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" .
}