@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI> .
@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:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_head {
  this: np:hasAssertion dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion;
    np:hasProvenance dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_provenance;
    np:hasPublicationInfo dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion a np:Assertion .
  
  dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_provenance a np:Provenance .
  
  dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion {
  miriam-gene:4935 a ncit:C16612 .
  
  lld:C0700501 a ncit:C7057 .
  
  dgn-gda:DGN592fac06f3d8c499fdcf6b01d0a618c6 sio:SIO_000628 miriam-gene:4935, lld:C0700501;
    a sio:SIO_001121 .
}

dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_provenance {
  dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion dcterms:description
      "[These results suggest that this novel mutation is associated with the congenital nystagmus observed in this Chinese family and further support that GPR143 mutations are the underlying pathogenesis of the molecular mechanism for congenital nystagmus.]. 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:19390656;
    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:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:18+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" .
}