@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM> .
@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:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_head {
  this: np:hasAssertion dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_assertion;
    np:hasProvenance dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_provenance;
    np:hasPublicationInfo dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_assertion a np:Assertion .
  
  dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_provenance a np:Provenance .
  
  dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_assertion {
  miriam-gene:1013 a ncit:C16612 .
  
  lld:C0242383 a ncit:C7057 .
  
  dgn-gda:DGNe4fae34b3bd4835ce2cf79ac3df92008 sio:SIO_000628 miriam-gene:1013, lld:C0242383;
    a sio:SIO_001121 .
}

dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_provenance {
  dgn-np:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_assertion dcterms:description
      "[Altogether, our results obtained in a series of families of various ethnic origins firmly establish mutations in CDH3 as the proximal cause of hypotrichosis with juvenile macular dystrophy and demonstrate genetic homogeneity as well as phenotypic heterogeneity in this disorder.]. 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:14708629;
    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:NP300454.RAYk-0pkAtXBinrNuAxYFCgHM1A1csT_P4boaAStOFaNM130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:32+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" .
}