@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns> .
@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:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_head {
  this: np:hasAssertion dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_assertion;
    np:hasProvenance dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_provenance;
    np:hasPublicationInfo dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_assertion a np:Assertion .
  
  dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_provenance a np:Provenance .
  
  dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_assertion {
  miriam-gene:3258 a ncit:C16612 .
  
  lld:C1832645 a ncit:C7057 .
  
  dgn-gda:DGNf63c65cd4a4efc48c21bbecd0da98577 sio:SIO_000628 miriam-gene:3258, lld:C1832645;
    a sio:SIO_001121 .
}

dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_provenance {
  dgn-np:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_assertion dcterms:description
      "[An additional adult member (who previously underwent parathyroidectomy for neonatal severe primary hyperparathyroidism) showed an abnormality in renal clearance of calcium and sodium characteristic of combined familial hypocalciuric hypercalcemia and surgical hypoparathyroidism.]. 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:3966479;
    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:NP732029.RAGoGrC6mEhkvkp2TR_Z1VkdGOWwpcTkUVNj75s3OAtns130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:24+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" .
}