@prefix orcid: <http://orcid.org/> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY> .
@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:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_head {
  this: np:hasAssertion dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_assertion;
    np:hasProvenance dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_provenance;
    np:hasPublicationInfo dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_assertion a np:Assertion .
  
  dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_provenance a np:Provenance .
  
  dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_assertion {
  miriam-gene:1497 a ncit:C16612 .
  
  lld:C0268626 a ncit:C7057 .
  
  dgn-gda:DGNcb6607b65ee28d945c900f95c7deceba sio:SIO_000628 miriam-gene:1497, lld:C0268626;
    a sio:SIO_001122 .
}

dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_provenance {
  dgn-np:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_assertion dcterms:description
      "[By screening for mutations in the CTNS exons and promotor region, we report 14 novel mutations associated with cystinosis: 11 underlying infantile cystinosis, two juvenile cystinosis, and one associated with an atypical form of the disease.]. 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:12442267;
    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:NP1599.RAkEfOrQ5tfA0_JkduILCX_IfTT-edhAF3W0votwGo4qY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:31:58+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: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" .
}