@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg> .
@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:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_head {
  this: np:hasAssertion dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion;
    np:hasProvenance dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_provenance;
    np:hasPublicationInfo dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion a np:Assertion .
  
  dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_provenance a np:Provenance .
  
  dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion {
  miriam-gene:3858 a ncit:C16612 .
  
  lld:C0079153 a ncit:C7057 .
  
  dgn-gda:DGNd772036251fb684a0dce3334616a09a8 sio:SIO_000628 miriam-gene:3858, lld:C0079153;
    a sio:SIO_001122 .
}

dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_provenance {
  dgn-np:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_assertion dcterms:description
      "[The most frequent mutation that causes the autosomal dominant skin disease epidermolytic hyperkeratosis (EHK) is an arginine to histidine substitution at position 10 in the 1A segment of the rod domain of keratin 10.]. 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:8648165;
    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:NP1351032.RAJzy_oBTE8LDK9jzBBUTo3BNGLqVXgXqr6F4jSRsZrhg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:58+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" .
}