@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ> .
@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 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:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_head {
  this: np:hasAssertion dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion;
    np:hasProvenance dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance;
    np:hasPublicationInfo dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion a np:Assertion .
  
  dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance a np:Provenance .
  
  dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion {
  miriam-gene:79651 a ncit:C16612 .
  
  lld:C1835664 a ncit:C7057 .
  
  dgn-gda:DGN307863715323fef66e2b097ccbecc6d1 sio:SIO_000628 miriam-gene:79651, lld:C1835664;
    a sio:SIO_001122 .
}

dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance {
  dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion dcterms:description
      "[Using a targeted capture array and next-generation sequencing, we have now identified missense mutations (c.557T>C [p.Ile186Thr] and c.566C>T [p.Pro189Leu] in RHBDF2, which encodes the inactive rhomboid protease RHBDF2 (also known as iRhom2), as the underlying cause of TOC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:22265016;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:00+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" .
}