@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A> .
@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:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_head {
  this: np:hasAssertion dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_assertion;
    np:hasProvenance dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_provenance;
    np:hasPublicationInfo dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_assertion a np:Assertion .
  
  dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_provenance a np:Provenance .
  
  dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_assertion {
  miriam-gene:5664 a ncit:C16612 .
  
  lld:C0276496 a ncit:C7057 .
  
  dgn-gda:DGN8379341aac3c3ebd0ac5d6a8041b6d5a sio:SIO_000628 miriam-gene:5664, lld:C0276496;
    a sio:SIO_001121 .
}

dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_provenance {
  dgn-np:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_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:NP1269226.RA-K5Ceuj0LawpawR0AN8VqwC6h5F-3MO7jxV0_iQSj8A130_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" .
}