@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs> .
@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:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_head {
  this: np:hasAssertion dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_assertion;
    np:hasProvenance dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_provenance;
    np:hasPublicationInfo dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_assertion a np:Assertion .
  
  dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_provenance a np:Provenance .
  
  dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_assertion {
  miriam-gene:138428 a ncit:C16612 .
  
  lld:C3494506 a ncit:C7057 .
  
  dgn-gda:DGN556ae8d07040b336c1e5cdabfb417cc1 sio:SIO_000628 miriam-gene:138428, lld:C3494506;
    a sio:SIO_001121 .
}

dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_provenance {
  dgn-np:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_assertion dcterms:description
      "[Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate G(s) in their target tissues (pseudohypoparathyroidism type IA).]. 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:11588148;
    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:NP270977.RAWc7xxpGvluZofFxyC7L2JjTaihLPXed3O7RdDUxskNs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:31+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" .
}