@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0> .
@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 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:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_head {
  this: np:hasAssertion dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_assertion;
    np:hasProvenance dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_provenance;
    np:hasPublicationInfo dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_assertion a np:Assertion .
  
  dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_provenance a np:Provenance .
  
  dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_assertion {
  miriam-gene:4041 a ncit:C16612 .
  
  lld:C0432273 a ncit:C7057 .
  
  dgn-gda:DGN2fc7c35dd739d975d1fde32562fd2686 sio:SIO_000628 miriam-gene:4041, lld:C0432273;
    a sio:SIO_001122 .
}

dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_provenance {
  dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_assertion dcterms:description
      "[We performed mutation analysis of the LRP5 gene in 10 families or isolated patients with different conditions with an increased bone density, including endosteal hyperostosis, Van Buchem disease, autosomal dominant osteosclerosis, and osteopetrosis type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:12579474;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP3877.RAgrBxuE5iFyMJWCrFmI-jEz7z4-0TUg8L1StQLjBrSY0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:31:59+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" .
}