@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ> .
@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:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_head {
  this: np:hasAssertion dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_assertion;
    np:hasProvenance dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_provenance;
    np:hasPublicationInfo dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_assertion a np:Assertion .
  
  dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_provenance a np:Provenance .
  
  dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_assertion {
  miriam-gene:128408 a ncit:C16612 .
  
  lld:C0030805 a ncit:C7057 .
  
  dgn-gda:DGNb5b123890c402f367d5956784081f64e sio:SIO_000628 miriam-gene:128408, lld:C0030805;
    a sio:SIO_001121 .
}

dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_provenance {
  dgn-np:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_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:NP180953.RARR576UkwCT0EdJxrqYYMDqvbATYnB5EONas1xvP-HUQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:38+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" .
}