@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ> .
@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:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_head {
  this: np:hasAssertion dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion;
    np:hasProvenance dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance;
    np:hasPublicationInfo dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion a np:Assertion .
  
  dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance a np:Provenance .
  
  dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion {
  miriam-gene:1130 a ncit:C16612 .
  
  lld:C0007965 a ncit:C7057 .
  
  dgn-gda:DGNdb49d3a31efb6069398a1a6eb7db8b73 sio:SIO_000628 miriam-gene:1130, lld:C0007965;
    a sio:SIO_001122 .
}

dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance {
  dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion dc:description
      "[In patients with severe childhood CHS, we found only functionally null mutant CHS1 alleles, whereas in patients with the adolescent and adult forms of CHS we also found missense mutant alleles that likely encode CHS1 polypeptides with partial function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:11857544;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_publicationInfo {
  this: dc:created "2014-10-02T12:31:59+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}