@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY> .
@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:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_head {
  this: np:hasAssertion dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion;
    np:hasProvenance dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_provenance;
    np:hasPublicationInfo dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion a np:Assertion .
  
  dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_provenance a np:Provenance .
  
  dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion {
  miriam-gene:224 a ncit:C16612 .
  
  lld:C0020758 a ncit:C7057 .
  
  dgn-gda:DGNab956f7320ec3771f6d63e9f80e6582c sio:SIO_000628 miriam-gene:224, lld:C0020758;
    a sio:SIO_001121 .
}

dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_provenance {
  dgn-np:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion dcterms:description
      "[Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia.]. 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:23034980;
    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:NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:27+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" .
}