@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE> .
@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:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_head {
  this: np:hasAssertion dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_assertion;
    np:hasProvenance dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_provenance;
    np:hasPublicationInfo dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_assertion a np:Assertion .
  
  dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_provenance a np:Provenance .
  
  dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_assertion {
  miriam-gene:158326 a ncit:C16612 .
  
  lld:C0542519 a ncit:C7057 .
  
  dgn-gda:DGNfe175e173eb3451a51dc58b1beabae69 sio:SIO_000628 miriam-gene:158326, lld:C0542519;
    a sio:SIO_001121 .
}

dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_provenance {
  dgn-np:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_assertion dcterms:description
      "[Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis.]. 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:21182980;
    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:NP976765.RAy54NAfimSoY-NeIDjuALvxF11HzdrYBp00dytWDmdPE130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:36+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" .
}