@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw> .
@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/v4.0.0/void/> .

dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_head {
  this: np:hasAssertion dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_assertion;
    np:hasProvenance dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_provenance;
    np:hasPublicationInfo dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_assertion a np:Assertion .
  
  dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_provenance a np:Provenance .
  
  dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_assertion {
  miriam-gene:54941 a ncit:C16612 .
  
  lld:C1290884 a ncit:C7057 .
  
  dgn-gda:DGN5052c795449d0af6e05a6d2dbbd94f32 sio:SIO_000628 miriam-gene:54941, lld:C1290884;
    a sio:SIO_001121 .
}

dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_provenance {
  dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_assertion dcterms:description
      "[We identified one de novo deletion and three missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjögren syndrome.]. 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:25196541;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:58+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: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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}