@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU> .
@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:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_head {
  this: np:hasAssertion dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_assertion;
    np:hasProvenance dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_provenance;
    np:hasPublicationInfo dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_assertion a np:Assertion .
  
  dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_provenance a np:Provenance .
  
  dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_assertion {
  miriam-gene:4893 a ncit:C16612 .
  
  lld:C0028326 a ncit:C7057 .
  
  dgn-gda:DGNa71491048903eb324e18b77268943410 sio:SIO_000628 miriam-gene:4893, lld:C0028326;
    a sio:SIO_001121 .
}

dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_provenance {
  dgn-np:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_assertion dcterms:description
      "[Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1.]. 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:20461756;
    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:NP184491.RAwZPV69-wN1lL7Sgen0EUKMQBVUPsXwgOlRnuvSl_4OU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:40+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" .
}