@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU> .
@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:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_head {
  this: np:hasAssertion dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_assertion;
    np:hasProvenance dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_provenance;
    np:hasPublicationInfo dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_assertion a np:Assertion .
  
  dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_provenance a np:Provenance .
  
  dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_assertion {
  miriam-gene:4920 a ncit:C16612 .
  
  lld:C0431863 a ncit:C7057 .
  
  dgn-gda:DGN8b9949187b043222f58119bfd8a82958 sio:SIO_000628 miriam-gene:4920, lld:C0431863;
    a sio:SIO_001121 .
}

dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_provenance {
  dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_assertion dcterms:description
      "[In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).]. 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:17668388;
    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:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:47+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" .
}