@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8> .
@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:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_head {
  this: np:hasAssertion dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_assertion;
    np:hasProvenance dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_provenance;
    np:hasPublicationInfo dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_assertion a np:Assertion .
  
  dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_provenance a np:Provenance .
  
  dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_assertion {
  miriam-gene:6606 a ncit:C16612 .
  
  lld:C0026847 a ncit:C7057 .
  
  dgn-gda:DGN7aea6a0e004511cf96c20899046c00cf sio:SIO_000628 miriam-gene:6606, lld:C0026847;
    a sio:SIO_001121 .
}

dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_provenance {
  dgn-np:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_assertion dcterms:description
      "[Among the duplicated genes in this region, SMNT (telomeric copy; survival motor neuron) is thought to be the major disease determining gene since it is missing in the majority of SMA patients and since small, intragenic mutations in the gene have been associated with the disorder.]. 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:9063743;
    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:NP1368985.RAkIkgCfC1GWaOpZkblJAYNvaYkFlHfH0-MoNIwL89wF8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:06+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" .
}