@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc> .
@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:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_head {
  this: np:hasAssertion dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_assertion;
    np:hasProvenance dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_provenance;
    np:hasPublicationInfo dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_assertion a np:Assertion .
  
  dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_provenance a np:Provenance .
  
  dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_assertion {
  miriam-gene:4653 a ncit:C16612 .
  
  lld:C0017612 a ncit:C7057 .
  
  dgn-gda:DGNf9fa566a219c64e330401a0a3d83938d sio:SIO_000628 miriam-gene:4653, lld:C0017612;
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dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_provenance {
  dgn-np:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_assertion dcterms:description
      "[We previously proposed that the disruption of dimer or oligomer formation by the C-term region allows greater chances of nucleation for aggregation. Here we suggest that polymorphisms in the myocilin genomic region that cause synonymous codon changes or those that occur in the intron regions can possibly lead to altered myocilin protein products through altered intron-exon splicing.]. 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:21203411;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP69190.RA6EitDFi8UKX78S1P4kE7HUhlzmaAXtzIEHqo0U_fePc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:33+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>,
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    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}