@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y> .
@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:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_head {
  this: np:hasAssertion dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion;
    np:hasProvenance dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_provenance;
    np:hasPublicationInfo dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion a np:Assertion .
  
  dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_provenance a np:Provenance .
  
  dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion {
  miriam-gene:11005 a ncit:C16612 .
  
  lld:C0265962 a ncit:C7057 .
  
  dgn-gda:DGN72cb6023e194ad5882ee433a03886e1d sio:SIO_000628 miriam-gene:11005, lld:C0265962;
    a sio:SIO_001122 .
}

dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_provenance {
  dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion dcterms:description
      "[This finding indicates that haploinsufficiency of SPINK5 can cause the NS phenotype in the presence of one null mutation with homozygous G1258A polymorphisms in SPINK5, and this could impair the function of LEKTI and therefore acts as a true mutation.]. 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:19438860;
    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:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:20+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: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" .
}