@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0> .
@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:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_head {
   this: np:hasAssertion dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_assertion ;
    np:hasProvenance dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_provenance ;
    np:hasPublicationInfo dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_assertion a np:Assertion .
  dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_provenance a np:Provenance .
  dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_assertion {
   miriam-gene:6657 a ncit:C16612 .
  lld:C0018784 a ncit:C7057 .
  dgn-gda:DGN4f4f49e09e0765293bedee26bbcdc348 sio:SIO_000628 miriam-gene:6657 , lld:C0018784 ;
    a sio:SIO_001121 .
}
dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_provenance {
   dgn-np:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_assertion dcterms:description "[Clinical evaluation revealed that, in addition to bilateral eye defects, SOX2 mutations were associated with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, variable defects affecting the corpus callosum and mesial temporal structures, hypothalamic hamartoma, sensorineural hearing loss, and esophageal atresia.]. 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:16932809 ;
    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:NP221096.RAAmuQ947Aw2Ijdkm04_5pfbIkwLaghudPJfvdfFbMip0130_publicationInfo {
   this: dcterms:created "2014-10-02T12:34:02+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" .
}