@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y> .
@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:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_head {
  this: np:hasAssertion dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_assertion;
    np:hasProvenance dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_provenance;
    np:hasPublicationInfo dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_assertion a np:Assertion .
  
  dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_provenance a np:Provenance .
  
  dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_assertion {
  miriam-gene:351 a ncit:C16612 .
  
  lld:C0276496 a ncit:C7057 .
  
  dgn-gda:DGN0d460552c712a087ab8bec52968237a1 sio:SIO_000628 miriam-gene:351, lld:C0276496;
    a sio:SIO_001121 .
}

dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_provenance {
  dgn-np:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_assertion dcterms:description
      "[Thus missense, splice site or duplication mutants in the presenilin 1 (PS1), presenilin 2 (PS2) or the amyloid precursor protein (APP) genes, which alter the levels or shift the balance of Aβ produced, are associated with rare, highly penetrant autosomal dominant forms of Familial Alzheimer's Disease (FAD).]. 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:25748120;
    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:NP1269229.RADb3LeM0Jyj64XybjTeZzteXw2NH1cN9WoTD1hMy7D2Y130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:21+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" .
}