@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8> .
@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/v3.0.0/void/> .
dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_head {
   this: np:hasAssertion dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion ;
    np:hasProvenance dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_provenance ;
    np:hasPublicationInfo dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion a np:Assertion .
  dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_provenance a np:Provenance .
  dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion {
   miriam-gene:414 a ncit:C16612 .
  lld:C0018798 a ncit:C7057 .
  dgn-gda:DGN5e97703492f7f9352f5df32a4f9c12f1 sio:SIO_000628 miriam-gene:414 , lld:C0018798 ;
    a sio:SIO_001121 .
}
dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_provenance {
   dgn-np:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion dcterms:description "[We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum.]. 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:3565473 ;
    prov:wasDerivedFrom dgn-void:befree-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_publicationInfo {
   this: dcterms:created "2015-08-25T14:40:04+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 "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}