@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E> .
@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:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_head {
  this: np:hasAssertion dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_assertion;
    np:hasProvenance dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_provenance;
    np:hasPublicationInfo dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_assertion a np:Assertion .
  
  dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_provenance a np:Provenance .
  
  dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_assertion {
  miriam-gene:3643 a ncit:C16612 .
  
  lld:C0265344 a ncit:C7057 .
  
  dgn-gda:DGNaf6f9c30f00a8b09ddcd9a4d4e7c4383 sio:SIO_000628 miriam-gene:3643, lld:C0265344;
    a sio:SIO_001121 .
}

dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_provenance {
  dgn-np:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_assertion dcterms:description
      "[Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome (Leprechaunism), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death.]. 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:18411068;
    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:NP665721.RAGyW_OVYW9-q068s3EfAe1yEk5CKh1rix_koiXxX5l4E130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:47+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" .
}