@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc> .
@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:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_head {
  this: np:hasAssertion dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion;
    np:hasProvenance dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance;
    np:hasPublicationInfo dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion a np:Assertion .
  
  dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance a np:Provenance .
  
  dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion {
  miriam-gene:55750 a ncit:C16612 .
  
  lld:C0026848 a ncit:C7057 .
  
  dgn-gda:DGNba458d162873bc650ee960d5393168d9 sio:SIO_000628 miriam-gene:55750, lld:C0026848;
    a sio:SIO_001121 .
}

dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance {
  dgn-np:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion dcterms:description
      "[Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).]. 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:22284826;
    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:NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:29+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" .
}