@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc> .
@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:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_head {
  this: np:hasAssertion dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_assertion;
    np:hasProvenance dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_provenance;
    np:hasPublicationInfo dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_assertion a np:Assertion .
  
  dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_provenance a np:Provenance .
  
  dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_assertion {
  miriam-gene:3849 a ncit:C16612 .
  
  lld:C0432306 a ncit:C7057 .
  
  dgn-gda:DGN99818f4ba71cdc06640e186afd55da6b sio:SIO_000628 miriam-gene:3849, lld:C0432306;
    a sio:SIO_001121 .
}

dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_provenance {
  dgn-np:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_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-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:NP309946.RAp1NcY40rrLmPwXqdcwBqfSvuRs1smGgvmbfJ_mMHQTc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:58+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: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" .
}