@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE> .
@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:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_head {
  this: np:hasAssertion dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_assertion;
    np:hasProvenance dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_provenance;
    np:hasPublicationInfo dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_assertion a np:Assertion .
  
  dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_provenance a np:Provenance .
  
  dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_assertion {
  miriam-gene:4000 a ncit:C16612 .
  
  lld:C0011847 a ncit:C7057 .
  
  dgn-gda:DGN5f2dc70873d9b25ed6a7cecd9dd6e3b9 sio:SIO_000628 miriam-gene:4000, lld:C0011847;
    a sio:SIO_001121 .
}

dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_provenance {
  dgn-np:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_assertion dcterms:description
      "[Pathophysiological mechanisms explaining how mutations in an unique gene could lead to such various phenotypes are still unknown, but probably involve alterations in cellular mechanical stress responses, in gene expression, and/or in post-translational maturation of lamin A. Familial Partial Lipodystrophy of the Dunnigan type (FPLD2), with specific features of pseudo-cushingoid lipodystrophy, marked insulin resistance and muscular hypertrophy, and a relatively homogeneous genotype, was thought, until recently, to be the only laminopathy causing diabetes.]. 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:16357800;
    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:NP527195.RAPNY6KoLs0GMWl68pgVwJUPDO2Y8zVTzhlnUJFcHsILE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:43+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" .
}