@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg> .
@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:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_head {
  this: np:hasAssertion dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion;
    np:hasProvenance dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_provenance;
    np:hasPublicationInfo dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion a np:Assertion .
  
  dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_provenance a np:Provenance .
  
  dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion {
  miriam-gene:1717 a ncit:C16612 .
  
  lld:C0175694 a ncit:C7057 .
  
  dgn-gda:DGN05dca932bd9841a2b83a1ef49c888635 sio:SIO_000628 miriam-gene:1717, lld:C0175694;
    a sio:SIO_001121 .
}

dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_provenance {
  dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion dcterms:description
      "[This is the first study in which DHCR7 gene mutational analysis has been performed on SLOS subjects with severe photosensitivity and indicates that no single mutation is responsible for the photosensitivity which characterizes this 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:16181459;
    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:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_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" .
}