@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ> .
@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:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_head {
  this: np:hasAssertion dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_assertion;
    np:hasProvenance dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_provenance;
    np:hasPublicationInfo dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_assertion a np:Assertion .
  
  dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_provenance a np:Provenance .
  
  dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_assertion {
  miriam-gene:847 a ncit:C16612 .
  
  lld:C0015397 a ncit:C7057 .
  
  dgn-gda:DGN2b428f2e39c18ce0cc8cc7c87e5e2336 sio:SIO_000628 miriam-gene:847, lld:C0015397;
    a sio:SIO_001121 .
}

dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_provenance {
  dgn-np:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_assertion dcterms:description
      "[These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement.]. 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:6094051;
    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:NP414138.RAMSq3ZGqIPvVD3spdhz7Mbr17kTmgVjLVv-h10uDOUZQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:06+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" .
}