@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg> .
@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:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_head {
  this: np:hasAssertion dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion;
    np:hasProvenance dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance;
    np:hasPublicationInfo dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion a np:Assertion .
  
  dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance a np:Provenance .
  
  dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion {
  miriam-gene:139081 a ncit:C16612 .
  
  lld:C0345407 a ncit:C7057 .
  
  dgn-gda:DGNb78ba381f52d31c1d77560102774f080 sio:SIO_000628 miriam-gene:139081, lld:C0345407;
    a sio:SIO_001121 .
}

dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance {
  dgn-np:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion dcterms:description
      "[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. 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:15327960;
    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:NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:28+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" .
}