@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg> .
@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/v4.0.0/void/> .

dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_head {
  this: np:hasAssertion dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion;
    np:hasProvenance dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_provenance;
    np:hasPublicationInfo dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion a np:Assertion .
  
  dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_provenance a np:Provenance .
  
  dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion {
  miriam-gene:5159 a ncit:C16612 .
  
  lld:C0432284 a ncit:C7057 .
  
  dgn-gda:DGN9bb84d15c3fbc56d41482a4460a5f86f sio:SIO_000628 miriam-gene:5159, lld:C0432284;
    a sio:SIO_001121 .
}

dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_provenance {
  dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion dcterms:description
      "[Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies and psychosis, none of which overlaps with the clinical findings in Penttinen syndrome.]. 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:26279204;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:32+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}