@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo> .
@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/v4.0.0/void/> .

dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_head {
  this: np:hasAssertion dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_assertion;
    np:hasProvenance dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_provenance;
    np:hasPublicationInfo dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_assertion a np:Assertion .
  
  dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_provenance a np:Provenance .
  
  dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_assertion {
  miriam-gene:22852 a ncit:C16612 .
  
  lld:C1861185 a ncit:C7057 .
  
  dgn-gda:DGN8b96d53c0a1804d14dfb9b891331ecbb sio:SIO_000628 miriam-gene:22852, lld:C1861185;
    a sio:SIO_001121 .
}

dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_provenance {
  dgn-np:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_assertion dcterms:description
      "[We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2.]. 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:26175287;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1290132.RAoq12IjBAuYTovgIjmRHeVtrXVyMrp5uARuhetQ1etHo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:31+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}