@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs> .
@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:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_head {
  this: np:hasAssertion dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_assertion;
    np:hasProvenance dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_provenance;
    np:hasPublicationInfo dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_assertion a np:Assertion .
  
  dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_provenance a np:Provenance .
  
  dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_assertion {
  miriam-gene:5979 a ncit:C16612 .
  
  lld:C0040136 a ncit:C7057 .
  
  dgn-gda:DGN5ce4a4fc0030e01d7fb59a3bd164f0a4 sio:SIO_000628 miriam-gene:5979, lld:C0040136;
    a sio:SIO_001121 .
}

dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_provenance {
  dgn-np:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_assertion dcterms:description
      "[In fact, receptor rearrangements or point mutations convert RET and NTRK1 in dominantly acting transforming genes leading to thyroid tumors, whereas inactivating mutations, associated with Hirschsprung's disease (HSCR) and congenital insensitivity to pain with anhidrosis (CIPA), impair RET and NTRK1 functions, respectively.]. 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:12652644;
    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:NP388249.RAY3NCisy2R1YVLqacHXFiH8qVhTLo7B-SBFSHP5kzBbs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:41+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" .
}