@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI> .
@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/> .
@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-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_head {
  this: np:hasAssertion dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion;
    np:hasProvenance dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_provenance;
    np:hasPublicationInfo dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion a np:Assertion .
  
  dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_provenance a np:Provenance .
  
  dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion {
  miriam-gene:6261 a ncit:C16612 .
  
  lld:C0751951 a ncit:C7057 .
  
  dgn-gda:DGN85ea95525ab8089108bb52cf26ae3d97 sio:SIO_000628 miriam-gene:6261, lld:C0751951;
    a sio:SIO_001121 .
}

dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_provenance {
  dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion dcterms:description
      "[Malignant hyperthermia (MH), Central Core Disease (CCD), Exertional/environmental Heat Stroke (EHS) and Multiminicore disease (MmD) are inherited disorders of calcium homeostasis in skeletal muscles directly related to mutations of genes coding for proteins of the CRU, primarily ryanodine receptor (RYR1).]. 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:25424378;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:08+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}