@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE> .
@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:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_head {
  this: np:hasAssertion dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_assertion;
    np:hasProvenance dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_provenance;
    np:hasPublicationInfo dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_assertion a np:Assertion .
  
  dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_provenance a np:Provenance .
  
  dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_assertion {
  miriam-gene:1161 a ncit:C16612 .
  
  lld:C0009207 a ncit:C7057 .
  
  dgn-gda:DGN1d3e513a37bad588bdb7fe27f9951d52 sio:SIO_000628 miriam-gene:1161, lld:C0009207;
    a sio:SIO_001121 .
}

dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_provenance {
  dgn-np:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_assertion dcterms:description
      "[Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.]. 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:23311583;
    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:NP1042899.RACAE0C9a3z2lOek-sCFgFVLbtTJ-R_LRkvpUbMTlWxzE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:39+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" .
}