@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_head {
  this: np:hasAssertion dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion;
    np:hasProvenance dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance;
    np:hasPublicationInfo dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion a np:Assertion .
  
  dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance a np:Provenance .
  
  dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion {
  miriam-gene:2200 a ncit:C16612 .
  
  lld:C0575158 a ncit:C7057 .
  
  dgn-gda:DGN9558fb82b08ef476897ebfcd78310337 sio:SIO_000628 miriam-gene:2200, lld:C0575158;
    a sio:SIO_001121 .
}

dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_provenance {
  dgn-np:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_assertion dcterms:description
      "[Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the MASS phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373-2378], familial arachnodactyly, Shprintzen-Goldberg syndrome [Hayward et al., 1994: Mol Cell Probes 8:325-327; Furthmayr and Francke, 1997: Semin Thorac Cardiovasc Surg 9:191-205], and severe progressive kyphoscoliosis [Adès et al., 2002: Am J Med Genet 109:261-270].]. 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:15054843;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP437782.RAoV3F9U_oAs9_bEO8cahW-R3w4yHC0CSCLTSangNaHr0130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:03+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}