@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk> .
@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/v4.0.0/void/> .

dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_head {
  this: np:hasAssertion dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion;
    np:hasProvenance dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance;
    np:hasPublicationInfo dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion a np:Assertion .
  
  dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance a np:Provenance .
  
  dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion {
  miriam-gene:338442 a ncit:C16612 .
  
  lld:C0345407 a ncit:C7057 .
  
  dgn-gda:DGN6a260e4edc0c9019d123f5786be92c3e sio:SIO_000628 miriam-gene:338442, lld:C0345407;
    a sio:SIO_001121 .
}

dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance {
  dgn-np:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_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-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:12+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" .
}