@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM> .
@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:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_head {
  this: np:hasAssertion dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_assertion;
    np:hasProvenance dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_provenance;
    np:hasPublicationInfo dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_assertion a np:Assertion .
  
  dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_provenance a np:Provenance .
  
  dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_assertion {
  miriam-gene:55591 a ncit:C16612 .
  
  lld:C0271097 a ncit:C7057 .
  
  dgn-gda:DGNe5b519865abd0ff54bd910d9063a366b sio:SIO_000628 miriam-gene:55591, lld:C0271097;
    a sio:SIO_001121 .
}

dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_provenance {
  dgn-np:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_assertion dcterms:description
      "[A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.]. 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:25404053;
    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:NP1238078.RABrszdjdth1IY1Tf-fm0wki49b3zOV0TB5J8ZXjdoVsM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:07+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" .
}