@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo> .
@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:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_head {
  this: np:hasAssertion dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion;
    np:hasProvenance dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_provenance;
    np:hasPublicationInfo dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion a np:Assertion .
  
  dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_provenance a np:Provenance .
  
  dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion {
  miriam-gene:2668 a ncit:C16612 .
  
  lld:C2931876 a ncit:C7057 .
  
  dgn-gda:DGN6566a7ca0f164f6a4c45ff5a70ec98c6 sio:SIO_000628 miriam-gene:2668, lld:C2931876;
    a sio:SIO_001122 .
}

dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_provenance {
  dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion dcterms:description
      "[GDNF sequence variants including R93W have been suggested previously to represent low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in 376 control alleles studied by others.]. 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:9215674;
    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:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:09+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" .
}