@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs> .
@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:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_head {
  this: np:hasAssertion dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_assertion;
    np:hasProvenance dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_provenance;
    np:hasPublicationInfo dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_assertion a np:Assertion .
  
  dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_provenance a np:Provenance .
  
  dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_assertion {
  miriam-gene:29851 a ncit:C16612 .
  
  lld:C0340971 a ncit:C7057 .
  
  dgn-gda:DGN3e338711dc5bb9fd298a134c7f2a6e0f sio:SIO_000628 miriam-gene:29851, lld:C0340971;
    a sio:SIO_001121 .
}

dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_provenance {
  dgn-np:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_assertion dcterms:description
      "[The identification of a total of 9 ICOS-deficient patients revealed that this monogenic disease comprises the full clinical phenotype described for common variable immunodeficiency (CVID), including recurrent bacterial infections, adult as well as childhood onset, splenomegaly, autoimmune phenomena (autoimmune neutropenia), intestinal lymphoid hyperplasia, and malignancy (carcinoma of the vulva).]. 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:16384931;
    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:NP632632.RAPCaASvpVFPgXzbUByd-GeLdZjMVUjwsmFzZs9tT_RBs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:22+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 <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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}