@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk> .
@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 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:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_head {
  this: np:hasAssertion dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_assertion;
    np:hasProvenance dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_provenance;
    np:hasPublicationInfo dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_assertion a np:Assertion .
  
  dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_provenance a np:Provenance .
  
  dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_assertion {
  miriam-gene:100 a ncit:C16612 .
  
  lld:C2931540 a ncit:C7057 .
  
  dgn-gda:DGNa48362e9dea2f42b305557f7ba266f6f sio:SIO_000628 miriam-gene:100, lld:C2931540;
    a sio:SIO_001121 .
}

dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_provenance {
  dgn-np:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_assertion dct:description
      "[Forty-nine had X-linked SCID with mutations of common cytokine receptor gamma chain (gamma c), 16 had adenosine deaminase (ADA) deficiency, 8 had Janus kinase 3 (Jak3) deficiency, 21 had unknown autosomal recessive mutations, 1 had reticular dysgenesis, 1 had cartilage hair hypoplasia, and 12 (all boys) had SCID of undetermined type.]. 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:9063412;
    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:NP196649.RAD6_NAP22S4SRSuchZtXHurodwTnbSOW0rLzKO62YqJk130_publicationInfo {
  this: dct:created "2014-10-02T12:33:48+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}