@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg> .
@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:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_head {
  this: np:hasAssertion dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion;
    np:hasProvenance dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_provenance;
    np:hasPublicationInfo dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion a np:Assertion .
  
  dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_provenance a np:Provenance .
  
  dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion {
  miriam-gene:2260 a ncit:C16612 .
  
  lld:C1619700 a ncit:C7057 .
  
  dgn-gda:DGN048a884338a5d27dbcda915a63bc303e sio:SIO_000628 miriam-gene:2260, lld:C1619700;
    a sio:SIO_001121 .
}

dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_provenance {
  dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion dcterms:description
      "[Clinical features in the remaining 11 cases with no demonstrable KAL1 or FGFR1 mutations included right renal aplasia in one female, cleft palate in one male, cleft palate and perceptive deafness in one male, and dental agenesis and perceptive deafness in one male, in addition to a variable extent of HH and olfactory dysfunction.]. 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:15001591;
    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:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:33+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" .
}