@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM> .
@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:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_head {
  this: np:hasAssertion dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion;
    np:hasProvenance dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_provenance;
    np:hasPublicationInfo dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion a np:Assertion .
  
  dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_provenance a np:Provenance .
  
  dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion {
  miriam-gene:26503 a ncit:C16612 .
  
  lld:C1096902 a ncit:C7057 .
  
  dgn-gda:DGN6787c48892ddd62173b8d62b107e14c4 sio:SIO_000628 miriam-gene:26503, lld:C1096902;
    a sio:SIO_001121 .
}

dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_provenance {
  dgn-np:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion dcterms:description
      "[Lysosomal free sialic acid storage diseases are recessively inherited allelic neurodegenerative disorders that include Salla disease (SD) and infantile sialic acid storage disease (ISSD) caused by mutations in the SLC17A5 gene encoding for a lysosomal membrane protein, sialin, transporting sialic acid from lysosomes.]. 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:16170568;
    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:NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:38+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" .
}