@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_head {
  this: np:hasAssertion dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion;
    np:hasProvenance dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_provenance;
    np:hasPublicationInfo dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion a np:Assertion .
  
  dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_provenance a np:Provenance .
  
  dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion {
  miriam-gene:846 a ncit:C16612 .
  
  lld:C0020437 a ncit:C7057 .
  
  dgn-gda:DGN3fc8cdda7a61850d673b53a76a4840bb sio:SIO_000628 miriam-gene:846, lld:C0020437;
    a sio:SIO_001122 .
}

dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_provenance {
  dgn-np:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_assertion dcterms:description
      "[The NSHPT associated with biallelic Gly768Val mutations of the CASR in two siblings with severe hypercalcemia and hyperparathyroidism and their clinically and biochemically normal heterozygous parents was transmitted as an autosomal recessive disorder in this family.]. 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:24854525;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1184870.RAS5bMLXTC5UQTVvZjTru7N8CtvTWqafvIkmKCJMGTjcc130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:43+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}