@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_head {
  this: np:hasAssertion dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_assertion;
    np:hasProvenance dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_provenance;
    np:hasPublicationInfo dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_assertion a np:Assertion .
  
  dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_provenance a np:Provenance .
  
  dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_assertion {
  miriam-gene:3630 a ncit:C16612 .
  
  lld:C1280433 a ncit:C7057 .
  
  dgn-gda:DGN4b7f8571600e9a65dad77424240a224c sio:SIO_000628 miriam-gene:3630, lld:C1280433;
    a sio:SIO_001121 .
}

dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_provenance {
  dgn-np:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_assertion dcterms:description
      "[Syndrome of extreme insulin resistance (SEIR) is a rare spectrum disorder with a primary defect in insulin receptor signalling, noted primarily in children, and is often difficult to diagnose due to the clinical heterogeneity.SEIR was diagnosed in an adolescent girl with facial dysmorphism,exuberant scalp and body hair, severe acanthosis, lipoatrophy, dental abnormalities, and short stature (Rabson-Mendenhall phenotype).]. 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:23367497;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP258391.RAcLZ4TyMUoVwTfVWv9qAVy_FHWd20myXnvyNM2ftYOvc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:24+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}