@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U> .
@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/v3.0.0/void/> .

dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_head {
  this: np:hasAssertion dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion;
    np:hasProvenance dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_provenance;
    np:hasPublicationInfo dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion a np:Assertion .
  
  dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_provenance a np:Provenance .
  
  dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion {
  miriam-gene:3849 a ncit:C16612 .
  
  lld:C0343110 a ncit:C7057 .
  
  dgn-gda:DGN9adc239ab7084312e3d0f94c262f0fa6 sio:SIO_000628 miriam-gene:3849, lld:C0343110;
    a sio:SIO_001121 .
}

dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_provenance {
  dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion dcterms:description
      "[We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot.]. 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:7524919;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_publicationInfo {
  this: dcterms:created "2015-08-25T14:42:52+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}