@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg> .
@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:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_head {
  this: np:hasAssertion dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion;
    np:hasProvenance dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_provenance;
    np:hasPublicationInfo dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion a np:Assertion .
  
  dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_provenance a np:Provenance .
  
  dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion {
  miriam-gene:51218 a ncit:C16612 .
  
  lld:C0751748 a ncit:C7057 .
  
  dgn-gda:DGNef646dc2e22c8a1968234254fb5585e9 sio:SIO_000628 miriam-gene:51218, lld:C0751748;
    a sio:SIO_001121 .
}

dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_provenance {
  dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion dcterms:description
      "[Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.]. 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:25476511;
    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:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:10+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" .
}