@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils> .
@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:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_head {
  this: np:hasAssertion dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_assertion;
    np:hasProvenance dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_provenance;
    np:hasPublicationInfo dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_assertion a np:Assertion .
  
  dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_provenance a np:Provenance .
  
  dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_assertion {
  miriam-gene:157570 a ncit:C16612 .
  
  lld:C0031575 a ncit:C7057 .
  
  dgn-gda:DGN785af3644ae37a3f54ba1a5ce4346ab7 sio:SIO_000628 miriam-gene:157570, lld:C0031575;
    a sio:SIO_001121 .
}

dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_provenance {
  dgn-np:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_assertion dcterms:description
      "[Having established that RBS and SC are caused by mutations in the same gene, we delineated the clinical phenotype of the tetraphocomelia spectrum that is associated with HR and ESCO2 mutations and differentiated it from other types of phocomelia that are negative for HR.]. 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:16380922;
    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:NP290016.RAr2D-H_momB1O7zDvTBzx2Vw8DMjOyGyWsPLCRc2jils130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:45+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" .
}