@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M> .
@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:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_head {
  this: np:hasAssertion dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_assertion;
    np:hasProvenance dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_provenance;
    np:hasPublicationInfo dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_assertion a np:Assertion .
  
  dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_provenance a np:Provenance .
  
  dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_assertion {
  miriam-gene:3258 a ncit:C16612 .
  
  lld:C1840333 a ncit:C7057 .
  
  dgn-gda:DGNfc73b265e75b86104784a115f5ee61b1 sio:SIO_000628 miriam-gene:3258, lld:C1840333;
    a sio:SIO_001121 .
}

dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_provenance {
  dgn-np:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_assertion dcterms:description
      "[The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.]. 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:12110949;
    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:NP266213.RADeZtRj4GntRnFaEyRFBW3o3NymSRS4UsUXPWF6si94M130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:28+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" .
}