@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo> .
@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:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_head {
  this: np:hasAssertion dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion ;
    np:hasProvenance dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance ;
    np:hasPublicationInfo dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion a np:Assertion .
  dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance a np:Provenance .
  dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion {
  miriam-gene:54903 a ncit:C16612 .
  lld:C0019247 a ncit:C7057 .
  dgn-gda:DGN50a86358da7a5848248c7362d4690dca sio:SIO_000628 miriam-gene:54903 , lld:C0019247 ;
    a sio:SIO_001121 .
}
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance {
  dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion dcterms:description "[In Finland MES is effectively screened and relatively frequent with a birth prevalence of 1:9,000 and a disease gene frequency of 0.01 (ref.4) which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage', that is genetic disorders enriched or only encountered in Finland.]. 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:7550354 ;
    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:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:27+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" .
}