@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow> .
@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:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_head {
  this: np:hasAssertion dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_assertion;
    np:hasProvenance dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_provenance;
    np:hasPublicationInfo dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_assertion a np:Assertion .
  
  dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_provenance a np:Provenance .
  
  dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_assertion {
  miriam-gene:3689 a ncit:C16612 .
  
  lld:C0398738 a ncit:C7057 .
  
  dgn-gda:DGN324798fc4b3951ff493550b3ca6cc9f0 sio:SIO_000628 miriam-gene:3689, lld:C0398738;
    a sio:SIO_001122 .
}

dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_provenance {
  dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_assertion dcterms:description
      "[Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:20529581;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_publicationInfo {
  this: dcterms:created "2014-10-02T12:31:59+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 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" .
}