@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0> .
@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:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_head {
  this: np:hasAssertion dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_assertion;
    np:hasProvenance dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_provenance;
    np:hasPublicationInfo dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_assertion a np:Assertion .
  
  dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_provenance a np:Provenance .
  
  dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_assertion {
  miriam-gene:860 a ncit:C16612 .
  
  lld:C0008928 a ncit:C7057 .
  
  dgn-gda:DGNff48e00334aa39525117575316c8cce8 sio:SIO_000628 miriam-gene:860, lld:C0008928;
    a sio:SIO_001122 .
}

dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_provenance {
  dgn-np:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_assertion dcterms:description
      "[In addition, one patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development.]. 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:10521292;
    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:NP5649.RAA8CrbC4zCH3Xtrgro14ahUMqxmypX0nEGM8XzVCX2m0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:00+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" .
}