@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4> .
@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:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_head {
  this: np:hasAssertion dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion;
    np:hasProvenance dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_provenance;
    np:hasPublicationInfo dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion a np:Assertion .
  
  dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_provenance a np:Provenance .
  
  dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion {
  miriam-gene:2081 a ncit:C16612 .
  
  lld:C0002736 a ncit:C7057 .
  
  dgn-gda:DGN4d416540f5218fb4d2103cd761260012 sio:SIO_000628 miriam-gene:2081, lld:C0002736;
    a sio:SIO_001122 .
}

dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_provenance {
  dgn-np:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_assertion dcterms:description
      "[Firstly, the mutation P56S in the VAPB is seen to increase the stability of the protein and secondly, the mutation P56S in VAPB is seen to interrupt the functioning of the gene and loses its ability to be involved in the activation of the IRE1/XBP1 pathway which leads to ALS.]. 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:24681403;
    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:NP1168545.RAdZT8P0WPRZUgp7Z-FxpN3-7eQY4zSf63GFviKsfsuD4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:35+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" .
}