@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw> .
@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:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_head {
  this: np:hasAssertion dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_assertion;
    np:hasProvenance dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_provenance;
    np:hasPublicationInfo dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_assertion a np:Assertion .
  
  dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_provenance a np:Provenance .
  
  dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_assertion {
  miriam-gene:90 a ncit:C16612 .
  
  lld:C1705254 a ncit:C7057 .
  
  dgn-gda:DGN1509f0275c19812533726632fd461c92 sio:SIO_000628 miriam-gene:90, lld:C1705254;
    a sio:SIO_001121 .
}

dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_provenance {
  dgn-np:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_assertion dcterms:description
      "[Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterotopic ossification (HO) and caused by heterozygous activating mutation of the ACVR1 gene, which encodes the ALK2 receptor for bone morphogenetic proteins.]. 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:22131272;
    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:NP729247.RA39qQyDQqIcHIFAgeQ1Ofxe9GIrLEvLD_fjMW_MUSnsw130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:22+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" .
}