@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0> .
@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:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_head {
  this: np:hasAssertion dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_assertion;
    np:hasProvenance dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_provenance;
    np:hasPublicationInfo dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_assertion a np:Assertion .
  
  dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_provenance a np:Provenance .
  
  dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_assertion {
  miriam-gene:3643 a ncit:C16612 .
  
  lld:C0020456 a ncit:C7057 .
  
  dgn-gda:DGN770870818d2b72c0ee2e88ea7003cdd1 sio:SIO_000628 miriam-gene:3643, lld:C0020456;
    a sio:SIO_001121 .
}

dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_provenance {
  dgn-np:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_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:NP665719.RATovYLNjKX_j4jPmG3ly8C4ueOjsMlv1GlvDmbA4TtJ0130_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" .
}