@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo> .
@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:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_head {
  this: np:hasAssertion dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion;
    np:hasProvenance dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_provenance;
    np:hasPublicationInfo dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion a np:Assertion .
  
  dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_provenance a np:Provenance .
  
  dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion {
  miriam-gene:4434 a ncit:C16612 .
  
  lld:C0020757 a ncit:C7057 .
  
  dgn-gda:DGN401c6dd715ab490d1cdcea7c260e30d0 sio:SIO_000628 miriam-gene:4434, lld:C0020757;
    a sio:SIO_001121 .
}

dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_provenance {
  dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion dcterms:description
      "[They differed from classic MSD by the presence of corneal cloudiness, macrocephaly, severe dysostosis multiplex, and gibbus and the absence of ichthyosis, retinal degeneration, severe deafness, severe mental retardation, and dementia.]. 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:1588009;
    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:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:28+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" .
}