@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8> .
@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 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/v4.0.0/void/> .

dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_head {
  this: np:hasAssertion dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_assertion;
    np:hasProvenance dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_provenance;
    np:hasPublicationInfo dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_assertion a np:Assertion .
  
  dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_provenance a np:Provenance .
  
  dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_assertion {
  miriam-gene:4204 a ncit:C16612 .
  
  lld:C0035372 a ncit:C7057 .
  
  dgn-gda:DGN6c85c75fe59e7b68da6911d5a5fe00e4 sio:SIO_000628 miriam-gene:4204, lld:C0035372;
    a sio:SIO_001122 .
}

dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_provenance {
  dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_assertion dcterms:description
      "[In order to address the possibility of further X chromosomal or autosomal genetic factors in RTT, we evaluated six candidate genes for RTT selected on clinical, pathological, and genetic grounds: UBE1 (human ubiquitin activating enzyme E1, located in chromosome Xp11.23), UBE2I (ubiquitin conjugating enzyme E2I, homologous to yeast UBC9, chromosome 16p13.3), GdX (ubiquitin-like protein, chromosome Xq28), SOX3 (SRY related HMG box gene 3, chromosome Xq26-q27), GABRA3 (gamma-aminobutyric acid type A receptor alpha3 subunit, chromosome Xq28), and CDR2 (cerebellar degeneration related autoantigen 2, chromosome 16p12-p13.1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:10745042;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:50+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: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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}