@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c> .
@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:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_head {
  this: np:hasAssertion dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion;
    np:hasProvenance dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance;
    np:hasPublicationInfo dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion a np:Assertion .
  
  dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance a np:Provenance .
  
  dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion {
  miriam-gene:128408 a ncit:C16612 .
  
  lld:C0079301 a ncit:C7057 .
  
  dgn-gda:DGNca21a6ccd76ed2f0d16c2b84511d1973 sio:SIO_000628 miriam-gene:128408, lld:C0079301;
    a sio:SIO_001121 .
}

dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance {
  dgn-np:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion dcterms:description
      "[Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.]. 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:8791519;
    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:NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:07+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" .
}