@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg> .
@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:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_head {
  this: np:hasAssertion dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_assertion;
    np:hasProvenance dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_provenance;
    np:hasPublicationInfo dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_assertion a np:Assertion .
  
  dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_provenance a np:Provenance .
  
  dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_assertion {
  miriam-gene:3630 a ncit:C16612 .
  
  lld:C0011847 a ncit:C7057 .
  
  dgn-gda:DGNee99b8c52ad0278f9a5bff3e4167cd45 sio:SIO_000628 miriam-gene:3630, lld:C0011847;
    a sio:SIO_001122 .
}

dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_provenance {
  dgn-np:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_assertion dcterms:description
      "[The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population.]. 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:25701779;
    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:NP1265395.RAKw4Bq9qpSWqAiU6wk2E4FHI0L3adp5xm6PonCMhtoyg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:19+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" .
}