@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE> .
@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:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_head {
  this: np:hasAssertion dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_assertion;
    np:hasProvenance dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_provenance;
    np:hasPublicationInfo dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_assertion a np:Assertion .
  
  dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_provenance a np:Provenance .
  
  dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_assertion {
  miriam-gene:102724652 a ncit:C16612 .
  
  lld:C0086543 a ncit:C7057 .
  
  dgn-gda:DGNefcd55d6bcf61df314b61c037bfb10cc sio:SIO_000628 miriam-gene:102724652,
      lld:C0086543;
    a sio:SIO_001121 .
}

dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_provenance {
  dgn-np:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_assertion dcterms:description
      "[The mutation observed in CRYAA in the present family highlights the phenotypic heterogeneity of the disorder in relation to the genotype, as an identical mutation has previously been reported in an American family with a different type of cataract.]. 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:16735993;
    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:NP552196.RAJ-MRNnj3_MBwfECYiBq5c9BZUIayr2QEAK6azDn1lbE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:55+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" .
}