@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic> .
@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:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_head {
  this: np:hasAssertion dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_assertion;
    np:hasProvenance dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_provenance;
    np:hasPublicationInfo dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_assertion a np:Assertion .
  
  dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_provenance a np:Provenance .
  
  dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_assertion {
  miriam-gene:2778 a ncit:C16612 .
  
  lld:C0264009 a ncit:C7057 .
  
  dgn-gda:DGN2a24001d84f2f9c5ced54a45360ba0cf sio:SIO_000628 miriam-gene:2778, lld:C0264009;
    a sio:SIO_001121 .
}

dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_provenance {
  dgn-np:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_assertion dcterms:description
      "[The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800).]. 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:14723729;
    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:NP428011.RAjK3jsSc826C0lvaUG6TpH0z8nvlka-9ZF1O6sEqLdic130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:59+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" .
}