@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc> .
@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:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_head {
  this: np:hasAssertion dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_assertion;
    np:hasProvenance dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_provenance;
    np:hasPublicationInfo dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_assertion a np:Assertion .
  
  dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_provenance a np:Provenance .
  
  dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_assertion {
  miriam-gene:95 a ncit:C16612 .
  
  lld:C0039144 a ncit:C7057 .
  
  dgn-gda:DGN49cb68e7d29ad724adaa79c6acbcdbf2 sio:SIO_000628 miriam-gene:95, lld:C0039144;
    a sio:SIO_001121 .
}

dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_provenance {
  dgn-np:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_assertion dcterms:description
      "[The ACY1-deficient individuals were ascertained through urine metabolic screening because of unspecific psychomotor delay (one subject), psychomotor delay with atrophy of the vermis and syringomyelia (one subject), marked muscular hypotonia (one subject), and follow-up for early treated biotinidase deficiency and normal clinical findings (one subject).]. 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:16465618;
    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:NP841477.RAYIbpqok97T6CbkUlWAhftHKft7LeUCbrgWQjF7qzoyc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:34+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" .
}