@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY> .
@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/v3.0.0/void/> .

dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_head {
  this: np:hasAssertion dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_assertion;
    np:hasProvenance dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_provenance;
    np:hasPublicationInfo dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_assertion a np:Assertion .
  
  dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_provenance a np:Provenance .
  
  dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_assertion {
  miriam-gene:5295 a ncit:C16612 .
  
  lld:C0878684 a ncit:C7057 .
  
  dgn-gda:DGNc61d99c9f336e7169e72e0371e854ba4 sio:SIO_000628 miriam-gene:5295, lld:C0878684;
    a sio:SIO_001122 .
}

dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_provenance {
  dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_assertion dcterms:description
      "[Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C&gt;T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome).]. 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:23810379;
    prov:wasDerivedFrom dgn-void:uniprot-20150221;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}

dgn-np:NP2119.RADJ0hzG-z5WR0cCtgIHpZvRtweGQXMngYOd_jorJ3cjY130_publicationInfo {
  this: dcterms:created "2015-08-25T14:37:43+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 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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}