@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw> .
@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:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_head {
  this: np:hasAssertion dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_assertion;
    np:hasProvenance dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_provenance;
    np:hasPublicationInfo dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_assertion a np:Assertion .
  
  dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_provenance a np:Provenance .
  
  dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_assertion {
  miriam-gene:3077 a ncit:C16612 .
  
  lld:C0023467 a ncit:C7057 .
  
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    a sio:SIO_001122 .
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dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_provenance {
  dgn-np:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_assertion dcterms:description
      "[We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).]. 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:15863206;
    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:NP492311.RA0BKQGe0eKaKHFVcxC4VBthyf2PdonTejzcE_X0B4Omw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:28+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" .
}