@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw> .
@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:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_head {
  this: np:hasAssertion dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_assertion;
    np:hasProvenance dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_provenance;
    np:hasPublicationInfo dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_assertion a np:Assertion .
  
  dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_provenance a np:Provenance .
  
  dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_assertion {
  miriam-gene:1311 a ncit:C16612 .
  
  lld:C0410538 a ncit:C7057 .
  
  dgn-gda:DGN765cbd726b766de019445ea97aa6a849 sio:SIO_000628 miriam-gene:1311, lld:C0410538;
    a sio:SIO_001121 .
}

dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_provenance {
  dgn-np:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_assertion dcterms:description
      "[These observations are similar to those for mutations in the cartilage oligomeric matrix protein (COMP) leading to multiple epiphyseal dysplasia and pseudoachondroplasia suggesting that retention and accumulation of cartilage proteins in the ER might be a general mechanism involved in the pathogenesis of chondrodysplasias.]. 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:16199550;
    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:NP516001.RAoY9mG-dBZ8m62jKY4e_PYqDwbWyvcb30jp449r6Sxnw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:38+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" .
}