@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs> .
@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:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_head {
  this: np:hasAssertion dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_assertion;
    np:hasProvenance dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_provenance;
    np:hasPublicationInfo dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_assertion a np:Assertion .
  
  dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_provenance a np:Provenance .
  
  dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_assertion {
  miriam-gene:8820 a ncit:C16612 .
  
  lld:C0338503 a ncit:C7057 .
  
  dgn-gda:DGNa4f58a847d1e73d3d0bab04b4f213155 sio:SIO_000628 miriam-gene:8820, lld:C0338503;
    a sio:SIO_001121 .
}

dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_provenance {
  dgn-np:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_assertion dcterms:description
      "[The presence of a heterozygous HESX1 mutation in one case suggests this gene is important in the development of both ectopic posterior pituitary lobe and periventricular heterotopia and supports their place in the spectrum of septo-optic dysplasia.]. 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:12372734;
    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:NP370438.RAbCCCWO0IHO88AM3hOBNKpdNm4IQgC4sk1iDXZ0CT3hs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:33+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: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" .
}