@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68> .
@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:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_head {
  this: np:hasAssertion dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion ;
    np:hasProvenance dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_provenance ;
    np:hasPublicationInfo dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion a np:Assertion .
  dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_provenance a np:Provenance .
  dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion {
  miriam-gene:9474 a ncit:C16612 .
  lld:C0024143 a ncit:C7057 .
  dgn-gda:DGN740ea4afd895408be6317aaff08fa6dc sio:SIO_000628 miriam-gene:9474 , lld:C0024143 ;
    a sio:SIO_001121 .
}
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_provenance {
  dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion dcterms:description "[Although these rare variants were observed to be located in the flanking regions of exons instead of missense mutations, patients carrying them tended to have severe clinical phenotype, and in silicon analysis suggested their regulatory effects.Increased frequencies of rare variants of ATG5 were identified in patients with LN and SLE compared with healthy controls, highlighting a likely important role of rare ATG5 variants in Chinese SLE patients.]. 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:26039132 ;
    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:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:29+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" .
}