@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ> .
@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:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_head {
  this: np:hasAssertion dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_assertion;
    np:hasProvenance dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_provenance;
    np:hasPublicationInfo dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_assertion a np:Assertion .
  
  dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_provenance a np:Provenance .
  
  dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_assertion {
  miriam-gene:7840 a ncit:C16612 .
  
  lld:C0339527 a ncit:C7057 .
  
  dgn-gda:DGN9124441b6493e1789e3f125397f9426c sio:SIO_000628 miriam-gene:7840, lld:C0339527;
    a sio:SIO_001121 .
}

dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_provenance {
  dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_assertion dcterms:description
      "[Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in retinal disease genes ALMS1, CNGA3, and MYO7A, which have not been previously associated with LCA, and 3 of the 37 carry novel mutations in IQCB1, which has been recently associated with LCA.]. 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:21901789;
    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:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:00+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" .
}