@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M> .
@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:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_head {
  this: np:hasAssertion dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_assertion;
    np:hasProvenance dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_provenance;
    np:hasPublicationInfo dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_assertion a np:Assertion .
  
  dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_provenance a np:Provenance .
  
  dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_assertion {
  miriam-gene:5621 a ncit:C16612 .
  
  lld:C0011265 a ncit:C7057 .
  
  dgn-gda:DGN8499a6749120e55227e05486c06ace2e sio:SIO_000628 miriam-gene:5621, lld:C0011265;
    a sio:SIO_001121 .
}

dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_provenance {
  dgn-np:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_assertion dcterms:description
      "[This variant GSS with codon 105 mutation has been found in four pedigrees, only in Japan up to the present, and the clinicopathological phenotype is summarized as follows: (1) onset at age 38-48, with a duration of 7-11 years, (2) prominent spastic paraparesis, associated with dementia and ataxia, (3) numerous amyloid plaques in the cerebral cortex, (4) amorphous PrP deposits with neuronal loss in the deep cortical layers, and (5) minor change of cerebellum.]. 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:7699395;
    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:NP1318847.RA4We_T682kMfm8b7_wtEswzuChspqxlKw1T2ANaLwN1M130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:44+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" .
}