@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ> .
@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/v3.0.0/void/> .

dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_head {
  this: np:hasAssertion dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_assertion;
    np:hasProvenance dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_provenance;
    np:hasPublicationInfo dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_assertion a np:Assertion .
  
  dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_provenance a np:Provenance .
  
  dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_assertion {
  miriam-gene:5781 a ncit:C16612 .
  
  lld:C0015230 a ncit:C7057 .
  
  dgn-gda:DGNb107c6eee57261af8e252e82eb7704e5 sio:SIO_000628 miriam-gene:5781, lld:C0015230;
    a sio:SIO_001122 .
}

dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_provenance {
  dgn-np:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_assertion dcterms:description
      "[We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.]. 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:12161596;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP660370.RAE7T61pfx7JXmPj18Fswlz_eIOiZFYU1TD9vktZPYhMQ130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:16+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}