@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk> .
@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:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_head {
  this: np:hasAssertion dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_assertion;
    np:hasProvenance dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_provenance;
    np:hasPublicationInfo dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_assertion a np:Assertion .
  
  dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_provenance a np:Provenance .
  
  dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_assertion {
  miriam-gene:1785 a ncit:C16612 .
  
  lld:C0575158 a ncit:C7057 .
  
  dgn-gda:DGN68d2fd9e2b0b41770f7541f96c53909c sio:SIO_000628 miriam-gene:1785, lld:C0575158;
    a sio:SIO_001121 .
}

dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_provenance {
  dgn-np:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_assertion dcterms:description
      "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. 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:12398836;
    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:NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:06+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" .
}