@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M> .
@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:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_head {
  this: np:hasAssertion dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion;
    np:hasProvenance dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_provenance;
    np:hasPublicationInfo dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion a np:Assertion .
  
  dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_provenance a np:Provenance .
  
  dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion {
  miriam-gene:2202 a ncit:C16612 .
  
  lld:C1852020 a ncit:C7057 .
  
  dgn-gda:DGN3daafec150cafa28e81433fb40ba0bbe sio:SIO_000628 miriam-gene:2202, lld:C1852020;
    a sio:SIO_001122 .
}

dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_provenance {
  dgn-np:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion dcterms:description
      "[The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD.]. 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:15218514;
    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:NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:30+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" .
}