@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g> .
@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:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_head {
  this: np:hasAssertion dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_assertion;
    np:hasProvenance dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_provenance;
    np:hasPublicationInfo dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_assertion a np:Assertion .
  
  dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_provenance a np:Provenance .
  
  dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_assertion {
  miriam-gene:6261 a ncit:C16612 .
  
  lld:C0026837 a ncit:C7057 .
  
  dgn-gda:DGN756b15c8e0202096dfed4fc41cb47619 sio:SIO_000628 miriam-gene:6261, lld:C0026837;
    a sio:SIO_001121 .
}

dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_provenance {
  dgn-np:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_assertion dcterms:description
      "[From a clinical point of view, the condition is widely heterogeneous and at least four phenotypes have been identified; genetic analysis has revealed that most patients with the classical form of multiminicore characterized by rigidity of the spine, early onset and respiratory impairment harbour recessive mutations in the SEPN1 gene, whereas the majority of patients belonging to the other categories, including patients with ophthalmoplegia or patients with a phenotype similar to central core disease, carry recessive mutations in the 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:17365175;
    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:NP620230.RAX97kz9ANHRsVNRGcTIbcv5cCVwtY9JwqLjAVaNM4j2g130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:14+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" .
}