@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA> .
@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:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_head {
  this: np:hasAssertion dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_assertion;
    np:hasProvenance dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_provenance;
    np:hasPublicationInfo dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_assertion a np:Assertion .
  
  dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_provenance a np:Provenance .
  
  dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_assertion {
  miriam-gene:2697 a ncit:C16612 .
  
  lld:C0017601 a ncit:C7057 .
  
  dgn-gda:DGN041537b7d38eaf7be1cab14fbaf8e0af sio:SIO_000628 miriam-gene:2697, lld:C0017601;
    a sio:SIO_001122 .
}

dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_provenance {
  dgn-np:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_assertion dcterms:description
      "[In this family harboring both structural alterations, two patients who carried the GJA1 (Ala253Val) and FOXC1 (Trp152STOP) mutations developed less severe glaucoma compared with family members presenting the FOXC1 (Trp152STOP) mutation alone.]. 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:16638984;
    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:NP425426.RAZfUiT43LGLrk_o_Daot2WdTs1XFRPjWwQiglEn66SQA130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:47+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" .
}