@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns> .
@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:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_head {
  this: np:hasAssertion dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_assertion;
    np:hasProvenance dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_provenance;
    np:hasPublicationInfo dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_assertion a np:Assertion .
  
  dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_provenance a np:Provenance .
  
  dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_assertion {
  miriam-gene:1836 a ncit:C16612 .
  
  lld:C0001079 a ncit:C7057 .
  
  dgn-gda:DGNc3bd8702d61c4e419429333a51743a31 sio:SIO_000628 miriam-gene:1836, lld:C0001079;
    a sio:SIO_001121 .
}

dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_provenance {
  dgn-np:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_assertion dcterms:description
      "[Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB.]. 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:23840040;
    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:NP512969.RAbYnbFewOakl1lQlONKJ9oI-Z64MlonoGXKqskxsOLns130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:05+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" .
}