@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I> .
@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:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_head {
  this: np:hasAssertion dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_assertion;
    np:hasProvenance dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_provenance;
    np:hasPublicationInfo dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_assertion a np:Assertion .
  
  dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_provenance a np:Provenance .
  
  dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_assertion {
  miriam-gene:1180 a ncit:C16612 .
  
  lld:C0751360 a ncit:C7057 .
  
  dgn-gda:DGN2479e53d8bec23a699e518bfde486390 sio:SIO_000628 miriam-gene:1180, lld:C0751360;
    a sio:SIO_001122 .
}

dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_provenance {
  dgn-np:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_assertion dct:description
      "[Mutations in the gene encoding this chloride channel (CLCN1) are responsible for both human purely myotonic disorders, autosomal recessive generalized myotonia (Becker's disease, GM) and autosomal dominant myotonia congenita (Thomsen's disease, MC).]. 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:7951242;
    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:NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_publicationInfo {
  this: dct:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct: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" .
}