@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I> .
@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:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_head {
  this: np:hasAssertion dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_assertion;
    np:hasProvenance dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_provenance;
    np:hasPublicationInfo dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_assertion a np:Assertion .
  
  dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_provenance a np:Provenance .
  
  dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_assertion {
  miriam-gene:925 a ncit:C16612 .
  
  lld:C0085577 a ncit:C7057 .
  
  dgn-gda:DGN8b23a6cb41786a2d3643ac043f19a2a4 sio:SIO_000628 miriam-gene:925, lld:C0085577;
    a sio:SIO_001121 .
}

dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_provenance {
  dgn-np:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_assertion dcterms:description
      "[In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality.]. 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:9321759;
    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:NP439092.RAkNHDM3AEZvF9DZ7m40agIjTiNU4a4ahz53TXU5v009I130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:20+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" .
}