@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M> .
@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:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_head {
  this: np:hasAssertion dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_assertion;
    np:hasProvenance dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_provenance;
    np:hasPublicationInfo dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_assertion a np:Assertion .
  
  dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_provenance a np:Provenance .
  
  dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_assertion {
  miriam-gene:60681 a ncit:C16612 .
  
  lld:C0268362 a ncit:C7057 .
  
  dgn-gda:DGN245cf2276f061fbdd2cf46714c6ae83b sio:SIO_000628 miriam-gene:60681, lld:C0268362;
    a sio:SIO_001121 .
}

dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_provenance {
  dgn-np:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_assertion dcterms:description
      "[Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of congenital joint contractures with absence of recessive variants in PLOD2, mutation analysis was performed of the FKBP10 gene, recently associated with Bruck syndrome and/or recessive OI.]. 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:22085994;
    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:NP221559.RAMpVKrKcGAXdf4V-ulAfzcb9uAboDusgbAhS1NOcsY2M130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:03+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" .
}