@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc> .
@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/v3.0.0/void/> .

dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_head {
  this: np:hasAssertion dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_assertion;
    np:hasProvenance dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_provenance;
    np:hasPublicationInfo dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_assertion a np:Assertion .
  
  dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_provenance a np:Provenance .
  
  dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_assertion {
  miriam-gene:54903 a ncit:C16612 .
  
  lld:C0431399 a ncit:C7057 .
  
  dgn-gda:DGNea27624deb0afd39f7bfb9339c0f7c78 sio:SIO_000628 miriam-gene:54903, lld:C0431399;
    a sio:SIO_001121 .
}

dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_provenance {
  dgn-np:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_assertion dcterms:description
      "[Using SNP mapping, we identified missense and truncating mutations in RPGRIP1L (KIAA1005) in both CORS and MKS, and we show that inactivation of the mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of CORS and MKS.]. 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:17558409;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP915307.RAeOocp_3Sywc3WsB3qDOwPjlHKnAzA0c97EUKaeVLPpc130_publicationInfo {
  this: dcterms:created "2015-08-25T14:46:58+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}