@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A> .
@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:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_head {
  this: np:hasAssertion dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion;
    np:hasProvenance dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_provenance;
    np:hasPublicationInfo dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion a np:Assertion .
  
  dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_provenance a np:Provenance .
  
  dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion {
  miriam-gene:401 a ncit:C16612 .
  
  lld:C1865915 a ncit:C7057 .
  
  dgn-gda:DGN250b8f6e1617e61967471fac67a97414 sio:SIO_000628 miriam-gene:401, lld:C1865915;
    a sio:SIO_001121 .
}

dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_provenance {
  dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion dcterms:description
      "[It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles in humans.]. 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:14597037;
    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:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:35+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" .
}