@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE> .
@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:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_head {
  this: np:hasAssertion dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_assertion;
    np:hasProvenance dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_provenance;
    np:hasPublicationInfo dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_assertion a np:Assertion .
  
  dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_provenance a np:Provenance .
  
  dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_assertion {
  miriam-gene:114548 a ncit:C16612 .
  
  lld:C2316212 a ncit:C7057 .
  
  dgn-gda:DGNda4d065cf76b32c3abadd2e2bf1a067e sio:SIO_000628 miriam-gene:114548, lld:C2316212;
    a sio:SIO_001121 .
}

dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_provenance {
  dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_assertion dcterms:description
      "[This report expands the spectrum of CIAS1 mutations associated to clinical disease, suggests that the same mutation can be associated with different clinical syndromes, and supports the evidence that CAPS patients should always be screened for mutations outside exon 3.]. 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:18080732;
    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:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:45+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" .
}