@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg> .
@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 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:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_head {
  this: np:hasAssertion dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion;
    np:hasProvenance dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance;
    np:hasPublicationInfo dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion a np:Assertion .
  
  dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance a np:Provenance .
  
  dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion {
  miriam-gene:4088 a ncit:C16612 .
  
  lld:C3151087 a ncit:C7057 .
  
  dgn-gda:DGN07643edf71b64791f18e57e58d3e95e3 sio:SIO_000628 miriam-gene:4088, lld:C3151087;
    a sio:SIO_001122 .
}

dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance {
  dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion dc:description
      "[SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:21778426;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo {
  this: dc:created "2014-10-02T12:32:00+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc: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" .
}