@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY> .
@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:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_head {
  this: np:hasAssertion dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_assertion;
    np:hasProvenance dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_provenance;
    np:hasPublicationInfo dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_assertion a np:Assertion .
  
  dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_provenance a np:Provenance .
  
  dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_assertion {
  miriam-gene:7412 a ncit:C16612 .
  
  lld:C3536983 a ncit:C7057 .
  
  dgn-gda:DGN63cba600b224c1e766dfc5ef8d3a46ef sio:SIO_000628 miriam-gene:7412, lld:C3536983;
    a sio:SIO_001121 .
}

dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_provenance {
  dgn-np:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_assertion dcterms:description
      "[While it is obvious that additional studies are necessary to further delineate the association between XLH and HSCR in the presence of L1CAM mutations, the documentation of this new patient reinforces the role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease.]. 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:22344793;
    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:NP768658.RAdeDUq5W4AyfInVsmqTWEe5lS_VlDbSi0Wj922U1GXOY130_publicationInfo {
  this: dcterms:created "2015-08-25T14:45:24+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" .
}