@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI> .
@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:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_head {
  this: np:hasAssertion dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_assertion;
    np:hasProvenance dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_provenance;
    np:hasPublicationInfo dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_assertion a np:Assertion .
  
  dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_provenance a np:Provenance .
  
  dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_assertion {
  miriam-gene:10913 a ncit:C16612 .
  
  lld:C0020608 a ncit:C7057 .
  
  dgn-gda:DGNe438c56d9946e770ef1b3f07fc33eddc sio:SIO_000628 miriam-gene:10913, lld:C0020608;
    a sio:SIO_001121 .
}

dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_provenance {
  dgn-np:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_assertion dcterms:description
      "[Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia.]. 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:19551394;
    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:NP747232.RAje6lg-RWnQwEwJLqr7vBOAwj241uOimneB46qgCOzrI130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:24+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: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" .
}