@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU> .
@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:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_head {
  this: np:hasAssertion dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_assertion;
    np:hasProvenance dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_provenance;
    np:hasPublicationInfo dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_assertion a np:Assertion .
  
  dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_provenance a np:Provenance .
  
  dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_assertion {
  miriam-gene:59341 a ncit:C16612 .
  
  lld:C0598589 a ncit:C7057 .
  
  dgn-gda:DGNcd74f82427112325aa82a01a0b9fd3d4 sio:SIO_000628 miriam-gene:59341, lld:C0598589;
    a sio:SIO_001121 .
}

dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_provenance {
  dgn-np:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_assertion dc:description
      "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. 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:21964829;
    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:NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_publicationInfo {
  this: dc:created "2014-10-02T12:40:16+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 orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}