@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_head {
  this: np:hasAssertion dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_assertion;
    np:hasProvenance dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_provenance;
    np:hasPublicationInfo dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_assertion a np:Assertion .
  
  dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_provenance a np:Provenance .
  
  dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_assertion {
  miriam-gene:23554 a ncit:C16612 .
  
  lld:C0005754 a ncit:C7057 .
  
  dgn-gda:DGN1e3468e060aa7c118f259c991c0e6316 sio:SIO_000628 miriam-gene:23554, lld:C0005754;
    a sio:SIO_001121 .
}

dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_provenance {
  dgn-np:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_assertion dcterms:description
      "[Mutations in Norrin, the ligand of a receptor complex consisting of FZD4, LRP5 and TSPAN12, cause severe developmental blood vessel defects in the retina and progressive loss of the vascular system in the inner ear, which lead to congenital blindness and progressive hearing loss, respectively.]. 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:22394677;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP848431.RAVBI56TPD3ojoK9o3g337U_AISm1TqLNdeQZ12s5ZnnE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:38+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}