@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4> .
@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/v3.0.0/void/> .

dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_head {
  this: np:hasAssertion dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion;
    np:hasProvenance dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_provenance;
    np:hasPublicationInfo dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion a np:Assertion .
  
  dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_provenance a np:Provenance .
  
  dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion {
  miriam-gene:9839 a ncit:C16612 .
  
  lld:C2931876 a ncit:C7057 .
  
  dgn-gda:DGNbcfc50b67973e2e7fef172adf70bf7b4 sio:SIO_000628 miriam-gene:9839, lld:C2931876;
    a sio:SIO_001121 .
}

dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_provenance {
  dgn-np:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion dcterms:description
      "[Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with 'syndromic Hirschsprung disease' with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al.]. 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:11891681;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_publicationInfo {
  this: dcterms:created "2015-08-25T14:46:04+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}