@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ> .
@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:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_head {
  this: np:hasAssertion dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_assertion;
    np:hasProvenance dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_provenance;
    np:hasPublicationInfo dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_assertion a np:Assertion .
  
  dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_provenance a np:Provenance .
  
  dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_assertion {
  miriam-gene:2200 a ncit:C16612 .
  
  lld:C0000768 a ncit:C7057 .
  
  dgn-gda:DGNc86ed961546f2e6d3c596eb9f374efa5 sio:SIO_000628 miriam-gene:2200, lld:C0000768;
    a sio:SIO_001121 .
}

dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_provenance {
  dgn-np:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_assertion dcterms:description
      "[Recent reports have described a distinct and recurrent pattern of systemic malformation that associates craniosynostosis and neurodevelopmental abnormalities with many clinical features of the Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular microfibril caused by defects in the gene encoding fibrillin-1, FBN1 (ref.]. 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:8563763;
    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:NP570890.RArRz-mVh1tUN57cPBpumftCLqMs5LGudOK3jX7DwRJjQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:44+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" .
}