@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0> .
@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:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_head {
  this: np:hasAssertion dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion;
    np:hasProvenance dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_provenance;
    np:hasPublicationInfo dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion a np:Assertion .
  
  dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_provenance a np:Provenance .
  
  dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion {
  miriam-gene:140805 a ncit:C16612 .
  
  lld:C0042798 a ncit:C7057 .
  
  dgn-gda:DGN58ada72ff22d7e7d77dad41588ed752c sio:SIO_000628 miriam-gene:140805, lld:C0042798;
    a sio:SIO_001121 .
}

dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_provenance {
  dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion dcterms:description
      "[We present here the case of a female patient with a point mutation at nucleotide position T14484C, who suffered from relapsing episodes of visual loss of both eyes and consecutively developed Hashimoto thyroiditis as well as widespread demyelinating CNS lesions outside the visual system.]. 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:15483043;
    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:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:22+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" .
}