@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8> .
@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:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_head {
  this: np:hasAssertion dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_assertion;
    np:hasProvenance dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_provenance;
    np:hasPublicationInfo dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_assertion a np:Assertion .
  
  dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_provenance a np:Provenance .
  
  dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_assertion {
  miriam-gene:1287 a ncit:C16612 .
  
  lld:C0027706 a ncit:C7057 .
  
  dgn-gda:DGNdbcb01e13ba5f41f59038e229dae8e02 sio:SIO_000628 miriam-gene:1287, lld:C0027706;
    a sio:SIO_001122 .
}

dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_provenance {
  dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_assertion dcterms:description
      "[Twenty-one mutations in COL4A5 gene were identified in patients with Alport syndrome and they include four gross deletions, two deep intronic mutations, three frameshifts, three splice site mutations, eight missense mutations and one inframe deletion.]. 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:16941480;
    prov:wasDerivedFrom dgn-void:lhgdn-20090331;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:20+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" .
}