@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w> .
@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:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_head {
  this: np:hasAssertion dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_assertion;
    np:hasProvenance dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_provenance;
    np:hasPublicationInfo dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_assertion a np:Assertion .
  
  dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_provenance a np:Provenance .
  
  dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_assertion {
  miriam-gene:3852 a ncit:C16612 .
  
  lld:C0432316 a ncit:C7057 .
  
  dgn-gda:DGN4bf665ca842074dc21bb52dd3ea7a266 sio:SIO_000628 miriam-gene:3852, lld:C0432316;
    a sio:SIO_001121 .
}

dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_provenance {
  dgn-np:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_assertion dcterms:description
      "[Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)).]. 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:16417221;
    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:NP506292.RAZLQp0T05Z6UK5aPG4ef6WipB4xvb2RHqiUpPvwVns2w130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:02+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" .
}