@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M> .
@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:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_head {
  this: np:hasAssertion dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_assertion;
    np:hasProvenance dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_provenance;
    np:hasPublicationInfo dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_assertion a np:Assertion .
  
  dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_provenance a np:Provenance .
  
  dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_assertion {
  miriam-gene:1896 a ncit:C16612 .
  
  lld:C1720965 a ncit:C7057 .
  
  dgn-gda:DGN0b0089b0849e49f384c33e3bf4d6ca98 sio:SIO_000628 miriam-gene:1896, lld:C1720965;
    a sio:SIO_001121 .
}

dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_provenance {
  dgn-np:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_assertion dcterms:description
      "[The history and the lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency).]. 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:19504606;
    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:NP470282.RAFUcvTeQztgoNDsY5CtTWaIOVdCou1VCibynFfDl8H8M130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:42+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" .
}