@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP217921.RARiQX52oWsZyDiOzbUrMsAkkHnFou4inbicFh9ZA81UM> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP217921.RARiQX52oWsZyDiOzbUrMsAkkHnFou4inbicFh9ZA81UM#> .
@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 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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> .
sub:head {
   this: np:hasAssertion sub:assertion ;
    np:hasProvenance sub:provenance ;
    np:hasPublicationInfo sub:publicationInfo ;
    a np:Nanopublication .
}
sub:assertion {
   dgn-gda:DGN2479e53d8bec23a699e518bfde486390 sio:SIO_000628 miriam-gene:1180 , lld:C0751360 ;
    a sio:SIO_001122 .
}
sub:provenance {
   sub:assertion dcterms: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 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:UNIPROT pav:importedOn "2017-01-25"^^xsd:date .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}
sub:publicationInfo {
   this: dcterms:created "2017-10-17T13:11:35+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:disgenetv3.0rdf ;
    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 "v5.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}