@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM> .
@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:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_head {
  this: np:hasAssertion dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_assertion;
    np:hasProvenance dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_provenance;
    np:hasPublicationInfo dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_assertion a np:Assertion .
  
  dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_provenance a np:Provenance .
  
  dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_assertion {
  miriam-gene:2200 a ncit:C16612 .
  
  lld:C1851286 a ncit:C7057 .
  
  dgn-gda:DGN0cc5a07677f7d0a387f68ade1ee5322b sio:SIO_000628 miriam-gene:2200, lld:C1851286;
    a sio:SIO_001121 .
}

dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_provenance {
  dgn-np:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_assertion dcterms:description
      "[FBN1 mutations have been found not only in MFS but also in a range of connective tissue disorders collectively termed fibrillinopathies ranging from mild phenotypes, such as isolated ectopia lentis, to severe disorders including neonatal MFS, which generally leads to death within the first two years of life.]. 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:12203987;
    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:NP763057.RACASAz6FgTE5-eo3N4iRQmUA-NoOFEzrBxv2wLe3djmM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:42+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" .
}