@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA> .
@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:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_head {
  this: np:hasAssertion dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion;
    np:hasProvenance dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_provenance;
    np:hasPublicationInfo dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion a np:Assertion .
  
  dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_provenance a np:Provenance .
  
  dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion {
  miriam-gene:2592 a ncit:C16612 .
  
  lld:C0268155 a ncit:C7057 .
  
  dgn-gda:DGNe2762666789f1504ca02230f15fbf48c sio:SIO_000628 miriam-gene:2592, lld:C0268155;
    a sio:SIO_001121 .
}

dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_provenance {
  dgn-np:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion dcterms:description
      "[As cataract and pseudotumor cerebri appear to be the sole complications of galactokinase deficiency, the outcome for patients with galactokinase deficiency is much better than for patients with classical galactosaemia (McKusick 230400), a more common autosomal recessive disorder of galactose metabolism caused by galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12) deficiency.]. 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:12705493;
    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:NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:29+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" .
}