@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo> .
@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/v3.0.0/void/> .

dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_head {
  this: np:hasAssertion dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion;
    np:hasProvenance dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_provenance;
    np:hasPublicationInfo dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion a np:Assertion .
  
  dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_provenance a np:Provenance .
  
  dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion {
  miriam-gene:1678 a ncit:C16612 .
  
  lld:C0155320 a ncit:C7057 .
  
  dgn-gda:DGN09f8541adf0477563981270ae6692947 sio:SIO_000628 miriam-gene:1678, lld:C0155320;
    a sio:SIO_001122 .
}

dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_provenance {
  dgn-np:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_assertion dcterms:description
      "[More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness.]. 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:8841189;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP353047.RAlRGSJizKIFsHuf5xjpNxlq_E7ZxsI7RsQcDBUlNSuPo130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:03+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}