@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_head {
  this: np:hasAssertion dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_assertion;
    np:hasProvenance dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_provenance;
    np:hasPublicationInfo dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_assertion a np:Assertion .
  
  dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_provenance a np:Provenance .
  
  dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_assertion {
  miriam-gene:1717 a ncit:C16612 .
  
  lld:C0175694 a ncit:C7057 .
  
  dgn-gda:DGN5f3d64acaba42188ebbe7f1a3258bbcc sio:SIO_000628 miriam-gene:1717, lld:C0175694;
    a sio:SIO_001122 .
}

dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_provenance {
  dgn-np:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_assertion dct:description
      "[The calculated carrier frequency for all mutations based on this result is 1 in 30, predicting an SLOS incidence of 1 in 1590 to 1 in 13,500. The current incidence estimate may, therefore, significantly underestimate the true incidence of SLOS. This discrepancy between calculated and observed incidence could be due to undiagnosed mild cases, misdiagnosed severe cases, death prior to diagnosis, or fetal loss. More comprehensive incidence studies are needed to determine if SLOS is as common as predicted by the very high (1 in 30) carrier frequency determined in this study.]. 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:11161831;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP45562.RAi0000UP_FCatT159vmYCC_Qkda9qWpa6LD3tJXinXyw130_publicationInfo {
  this: dct:created "2014-10-02T12:32:20+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}