@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE> .
@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:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_head {
  this: np:hasAssertion dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion;
    np:hasProvenance dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_provenance;
    np:hasPublicationInfo dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion a np:Assertion .
  
  dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_provenance a np:Provenance .
  
  dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion {
  miriam-gene:23545 a ncit:C16612 .
  
  lld:C0029454 a ncit:C7057 .
  
  dgn-gda:DGNeb035595a8a9f782caf6c79ea0424b3e sio:SIO_000628 miriam-gene:23545, lld:C0029454;
    a sio:SIO_001121 .
}

dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_provenance {
  dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion dcterms:description
      "[Although molecular defects have been described for many animal models of osteopetrosis, the gene responsible for most cases of the severe human form of the disease (infantile malignant osteopetrosis) is unknown.]. 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:10888887;
    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:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:09+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" .
}