@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_head {
  this: np:hasAssertion dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion;
    np:hasProvenance dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_provenance;
    np:hasPublicationInfo dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion a np:Assertion .
  
  dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_provenance a np:Provenance .
  
  dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion {
  miriam-gene:1859 a ncit:C16612 .
  
  lld:C0014544 a ncit:C7057 .
  
  dgn-gda:DGN87536c8a68d222606592c907d506fdce sio:SIO_000628 miriam-gene:1859, lld:C0014544;
    a sio:SIO_001121 .
}

dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_provenance {
  dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion dcterms:description
      "[Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microdeletions including only DYRK1A presented with overlapping phenotypes, we hypothesised that DYRK1A mutations could be responsible for syndromic ID with severe microcephaly and epilepsy.]. 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:23099646;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:38+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: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" .
}