@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU> .
@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/v3.0.0/void/> .

dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_head {
  this: np:hasAssertion dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion;
    np:hasProvenance dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_provenance;
    np:hasPublicationInfo dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion a np:Assertion .
  
  dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_provenance a np:Provenance .
  
  dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion {
  miriam-gene:57688 a ncit:C16612 .
  
  lld:C0206762 a ncit:C7057 .
  
  dgn-gda:DGNd2c05e224806716ede6707ac81d97d10 sio:SIO_000628 miriam-gene:57688, lld:C0206762;
    a sio:SIO_001121 .
}

dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_provenance {
  dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion dcterms:description
      "[qRT-PCR expression analysis of osteoblast and fibroblast cell lines available from two probands was suggestive of Hedgehog pathway activation, indicating that the ZSWIM6 mutation associated with AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling.]. 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:25105228;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:09+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}