@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E> .
@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:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_head {
  this: np:hasAssertion dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_assertion;
    np:hasProvenance dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_provenance;
    np:hasPublicationInfo dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_assertion a np:Assertion .
  
  dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_provenance a np:Provenance .
  
  dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_assertion {
  miriam-gene:59344 a ncit:C16612 .
  
  lld:C0020758 a ncit:C7057 .
  
  dgn-gda:DGNf7eae8371764047e02c7f851eeaf3bca sio:SIO_000628 miriam-gene:59344, lld:C0020758;
    a sio:SIO_001121 .
}

dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_provenance {
  dgn-np:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_assertion dcterms:description
      "[Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis and targeted disruption of the corresponding LOX genes in mice resulted in neonatal death due to a severely impaired permeability barrier function.]. 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:23954555;
    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:NP1103251.RAoNaOLpzFRtvzM9V7yogrYLi0WzZ9DpAWz6rYa4rmb3E130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:06+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" .
}