@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk> .
@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:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_head {
  this: np:hasAssertion dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_assertion;
    np:hasProvenance dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_provenance;
    np:hasPublicationInfo dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_assertion a np:Assertion .
  
  dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_provenance a np:Provenance .
  
  dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_assertion {
  miriam-gene:4069 a ncit:C16612 .
  
  lld:C0002726 a ncit:C7057 .
  
  dgn-gda:DGN29cd9141ae7a1bacb272d780158d1947 sio:SIO_000628 miriam-gene:4069, lld:C0002726;
    a sio:SIO_001122 .
}

dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_provenance {
  dgn-np:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_assertion dcterms:description
      "[The phenotype, reported for the first time in this extended kindred, contrasts with that of an apparently unrelated family carrying the same mutation who presented with spontaneous hepatic haemorrhage and rupture, and with the manifestations in a family with the lysozyme Ile56Thr variant who presented with dermal petechiae before proceeding to fatal visceral amyloidosis.]. 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:10534505;
    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:NP542022.RAaplDAwsH9EGSOxK4NzXmeEfZoGNkpX7AoGQEfdIWjwk130_publicationInfo {
  this: dcterms:created "2015-08-25T14:43:00+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" .
}