@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao> .
@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:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_head {
   this: np:hasAssertion dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_assertion ;
    np:hasProvenance dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_provenance ;
    np:hasPublicationInfo dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_assertion a np:Assertion .
  dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_provenance a np:Provenance .
  dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_assertion {
   miriam-gene:2629 a ncit:C16612 .
  lld:C0017205 a ncit:C7057 .
  dgn-gda:DGNa45c0f1eee61de5487c260aa60b83f58 sio:SIO_000628 miriam-gene:2629 , lld:C0017205 ;
    a sio:SIO_001122 .
}
dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_provenance {
   dgn-np:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_assertion dcterms:description "[An Israeli Ashkenazi cohort of 420 patients with PD, 333 elderly controls, and 3,805 young controls was screened for eight GBA mutations, which are associated with mild (N370S, R496H) and severe (84GG, IVS2 + 1, V394L, D409H, L444P, RecTL) Gaucher disease.]. 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:18434642 ;
    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:NP667657.RA3O9h6IswMvrHTc8_C7VYzvLFvlTB5MpVnVl-fUL0aao130_publicationInfo {
   this: dcterms:created "2016-05-13T12:46:48+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" .
}