@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs> .
@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:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_head {
  this: np:hasAssertion dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_assertion;
    np:hasProvenance dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_provenance;
    np:hasPublicationInfo dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_assertion a np:Assertion .
  
  dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_provenance a np:Provenance .
  
  dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_assertion {
  miriam-gene:4976 a ncit:C16612 .
  
  lld:C0338508 a ncit:C7057 .
  
  dgn-gda:DGN86895976ac6f39c0408c7b31cbc6e67d sio:SIO_000628 miriam-gene:4976, lld:C0338508;
    a sio:SIO_001121 .
}

dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_provenance {
  dgn-np:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_assertion dcterms:description
      "[In addition, a missense mutation in exon 10 resulted in predominant optical nerve atrophy, which might suggest deleterious interactions of this SPG7 variant with its substrate OPA1, the mutated gene product in optic atrophy type 1.]. 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:22964162;
    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:NP1011712.RAS1Wa5QXaRbjyBD8s8TmmUuQc7_04C2CkPQxnSLsDAxs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:24+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" .
}