@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE> .
@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:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_head {
  this: np:hasAssertion dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_assertion;
    np:hasProvenance dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_provenance;
    np:hasPublicationInfo dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_assertion a np:Assertion .
  
  dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_provenance a np:Provenance .
  
  dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_assertion {
  miriam-gene:2200 a ncit:C16612 .
  
  lld:C0575158 a ncit:C7057 .
  
  dgn-gda:DGN430114077d93df13752ace23ed031c9a sio:SIO_000628 miriam-gene:2200, lld:C0575158;
    a sio:SIO_001121 .
}

dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_provenance {
  dgn-np:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_assertion dcterms:description
      "[To our knowledge, this is the first report of a family with an FBN1 gene mutation cosegregating with an unusual autosomal dominant progressive kyphoscoliosis of variable severity, together with radiological abnormalities of the spine, and some skeletal but no ocular or cardiac manifestations of Marfan syndrome.]. 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:11992479;
    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:NP592611.RAypGNHCLdNrZ_4UUIglEH45V2UZ5cFGYQZpSergXtcfE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:56+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" .
}