@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw> .
@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:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_head {
  this: np:hasAssertion dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion;
    np:hasProvenance dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance;
    np:hasPublicationInfo dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion a np:Assertion .
  
  dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance a np:Provenance .
  
  dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion {
  miriam-gene:182 a ncit:C16612 .
  
  lld:C0015393 a ncit:C7057 .
  
  dgn-gda:DGN8171e844583454fb4a3e89d9f1d03762 sio:SIO_000628 miriam-gene:182, lld:C0015393;
    a sio:SIO_001121 .
}

dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance {
  dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion dcterms:description
      "[All four mutations lie within conserved regions of the gene and cause translational frameshifts, resulting in gross alterations of the protein product Patients with cytogenetically detectable deletions including JAG1 have Alagille syndrome, supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagille syndrome phenotype.]. 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:9207788;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:08+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" .
}