@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0> .
@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:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_head {
  this: np:hasAssertion dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_assertion;
    np:hasProvenance dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_provenance;
    np:hasPublicationInfo dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_assertion a np:Assertion .
  
  dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_provenance a np:Provenance .
  
  dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_assertion {
  miriam-gene:5663 a ncit:C16612 .
  
  lld:C0037771 a ncit:C7057 .
  
  dgn-gda:DGNd17b324ae64f1f4af1d9f692115e6663 sio:SIO_000628 miriam-gene:5663, lld:C0037771;
    a sio:SIO_001121 .
}

dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_provenance {
  dgn-np:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_assertion dcterms:description
      "[Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline.]. 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:23948899;
    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:NP1102733.RAm5dRr0NLDGqjtS3vufCbcYVT5hnssmJ7C5uTW26EEN0130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:05+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" .
}