@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8> .
@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:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_head {
  this: np:hasAssertion dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_assertion;
    np:hasProvenance dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_provenance;
    np:hasPublicationInfo dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_assertion a np:Assertion .
  
  dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_provenance a np:Provenance .
  
  dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_assertion {
  miriam-gene:1302 a ncit:C16612 .
  
  lld:C0265253 a ncit:C7057 .
  
  dgn-gda:DGN994dbefd20a6897a20e4844c223267f5 sio:SIO_000628 miriam-gene:1302, lld:C0265253;
    a sio:SIO_001121 .
}

dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_provenance {
  dgn-np:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_assertion dcterms:description
      "[The mild phenotype is consistent with similar mutations in the COL11A2 gene seen in patients with nonocular Stickler syndrome and some patients with otospondylomegaepiphyseal dysplasia (OSMED), as well as in patients with a nonsyndromic form of deafness called DFNA13.]. 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:11668593;
    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:NP372455.RAU4HAgJIpzEGIXCSEb5xz4H5XRYfkpiLclRk1f-M3Ql8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:38+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: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" .
}