@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA> .
@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 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:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_head {
  this: np:hasAssertion dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_assertion;
    np:hasProvenance dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_provenance;
    np:hasPublicationInfo dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_assertion a np:Assertion .
  
  dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_provenance a np:Provenance .
  
  dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_assertion {
  miriam-gene:5125 a ncit:C16612 .
  
  lld:C1531773 a ncit:C7057 .
  
  dgn-gda:DGN07d0177acdc01e9622c24048d2ccd868 sio:SIO_000628 miriam-gene:5125, lld:C1531773;
    a sio:SIO_001121 .
}

dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_provenance {
  dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_assertion dc:description
      "[We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:18519639;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

dgn-np:NP25531.RAC9xNyAiocOkobfXvBaJ_hHVQ4b_acdOGopUhgAlnkAA130_publicationInfo {
  this: dc:created "2014-10-02T12:32:10+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}