@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w> .
@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:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_head {
  this: np:hasAssertion dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_assertion;
    np:hasProvenance dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_provenance;
    np:hasPublicationInfo dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_assertion a np:Assertion .
  
  dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_provenance a np:Provenance .
  
  dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_assertion {
  miriam-gene:2778 a ncit:C16612 .
  
  lld:C0033806 a ncit:C7057 .
  
  dgn-gda:DGN4dfd305bcf18fdc3e5536d3c84c5ef76 sio:SIO_000628 miriam-gene:2778, lld:C0033806;
    a sio:SIO_001121 .
}

dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_provenance {
  dgn-np:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_assertion dcterms:description
      "[We conducted clinical and biological studies including screening for mutations in the gene encoding the alpha subunit of G(s) (GNAS1) in 30 subjects (21 unrelated families) with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP); and decreased erythrocyte G(s) activity (PHP-Ia; n = 19); AHO and decreased erythrocyte G(s) activity (isolated AHO; n = 10); or AHO, hormonal resistance, and normal erythrocyte G(s) activity (PHP-Ic; n = 1).]. 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:11788646;
    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:NP341830.RAI7In1vZVsYx7lJtlAAEszUSqUP_VMqiN7CTeBP-6j7w130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:20+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" .
}