@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk> .
@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:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_head {
  this: np:hasAssertion dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_assertion;
    np:hasProvenance dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_provenance;
    np:hasPublicationInfo dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_assertion a np:Assertion .
  
  dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_provenance a np:Provenance .
  
  dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_assertion {
  miriam-gene:5728 a ncit:C16612 .
  
  lld:C0018553 a ncit:C7057 .
  
  dgn-gda:DGN63254e2d3f9c7c49088b3f81074a2421 sio:SIO_000628 miriam-gene:5728, lld:C0018553;
    a sio:SIO_001121 .
}

dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_provenance {
  dgn-np:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_assertion dcterms:description
      "[The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.]. 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:22993021;
    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:NP653948.RAZFs5RXFgMKyFFOFRVuj1TN3vNQ4r9Q7wYDN9PXwfpAk130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:12+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" .
}