@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM> .
@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:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_head {
  this: np:hasAssertion dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_assertion;
    np:hasProvenance dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_provenance;
    np:hasPublicationInfo dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_assertion a np:Assertion .
  
  dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_provenance a np:Provenance .
  
  dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_assertion {
  miriam-gene:1789 a ncit:C16612 .
  
  lld:C0239234 a ncit:C7057 .
  
  dgn-gda:DGNc0fbcd1452388bca30af4fd157a69736 sio:SIO_000628 miriam-gene:1789, lld:C0239234;
    a sio:SIO_001121 .
}

dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_provenance {
  dgn-np:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_assertion dcterms:description
      "[In addition to the juxtacentromeric heterochromatic instability, the disease is characterized by variable reduction in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood as well as exhibit facial dysmorphism including hypertelorism, epicanthal folds, and low-set ears.]. 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:21120685;
    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:NP575530.RAQZFd-HRsEhoacfgdOjki_osRJ8ucsExvoU_Xs4nIoEM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:47+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" .
}