@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo> .
@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:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_head {
  this: np:hasAssertion dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_assertion;
    np:hasProvenance dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_provenance;
    np:hasPublicationInfo dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_assertion a np:Assertion .
  
  dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_provenance a np:Provenance .
  
  dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_assertion {
  miriam-gene:100188864 a ncit:C16612 .
  
  lld:C0023798 a ncit:C7057 .
  
  dgn-gda:DGNb5b20c67e06774e0f98b2a79db79df23 sio:SIO_000628 miriam-gene:100188864,
      lld:C0023798;
    a sio:SIO_001121 .
}

dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_provenance {
  dgn-np:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_assertion dcterms:description
      "[Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the Proteus syndrome (partial gigantism of hands or feet, hemihypertrophy, macrocephaly, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin.]. 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:3033033;
    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:NP400610.RASBBl57qoMuVgRw2P-rsaNmlWNu_x3ajrLpB8-F88cCo130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:58+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" .
}