@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs> .
@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:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_head {
  this: np:hasAssertion dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_assertion;
    np:hasProvenance dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_provenance;
    np:hasPublicationInfo dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_assertion a np:Assertion .
  
  dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_provenance a np:Provenance .
  
  dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_assertion {
  miriam-gene:2260 a ncit:C16612 .
  
  lld:C1563720 a ncit:C7057 .
  
  dgn-gda:DGNfc63a077337c5f893f765bd294788284 sio:SIO_000628 miriam-gene:2260, lld:C1563720;
    a sio:SIO_001121 .
}

dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_provenance {
  dgn-np:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_assertion dcterms:description
      "[The recent finding that FGFR1 mutations are involved in an autosomal dominant form of Kallmann syndrome (KAL2), combined with the analysis of mutant mouse embryos that no longer express Fgfr1 in the telencephalon, suggests that the disease results from a deficiency in FGF signaling at the earliest stage of olfactory bulb morphogenesis.]. 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:15365636;
    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:NP400694.RAv5aqZqMc3wzw34KgMpXZPsTEXMn3g31-cQ1EC9kTAhs130_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" .
}