@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_head {
  this: np:hasAssertion dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_assertion;
    np:hasProvenance dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_provenance;
    np:hasPublicationInfo dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_assertion a np:Assertion .
  
  dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_provenance a np:Provenance .
  
  dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_assertion {
  miriam-gene:7248 a ncit:C16612 .
  
  lld:C0004352 a ncit:C7057 .
  
  dgn-gda:DGN78aec18e120c79f2c0ce9a55951e817b sio:SIO_000628 miriam-gene:7248, lld:C0004352;
    a sio:SIO_001121 .
}

dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_provenance {
  dgn-np:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_assertion dcterms:description
      "[Higher burdens of rare, potentially deleterious variants were identified in autism cases for three pathway genes previously implicated in syndromic autism spectrum disorder, TSC1, TSC2, and SHANK3, suggesting that genetic variation in these genes also contributes to risk for non-syndromic autism.]. 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:22558107;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP581725.RAz4zGbNSS56tNec04dZnWQcK48ByytJLRgPMuyW-Smuo130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:50+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}