@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ> .
@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 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:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_head {
  this: np:hasAssertion dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion;
    np:hasProvenance dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion a np:Assertion .
  
  dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_provenance a np:Provenance .
  
  dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion {
  miriam-gene:55636 a ncit:C16612 .
  
  lld:C0265354 a ncit:C7057 .
  
  dgn-gda:DGN750dcf8b790091972bf48b81848d405d sio:SIO_000628 miriam-gene:55636, lld:C0265354;
    a sio:SIO_001122 .
}

dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_provenance {
  dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion dct:description
      "[Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:15300250;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_publicationInfo {
  this: dct:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}