@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA> .
@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:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_head {
  this: np:hasAssertion dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion;
    np:hasProvenance dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_provenance;
    np:hasPublicationInfo dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion a np:Assertion .
  
  dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_provenance a np:Provenance .
  
  dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion {
  miriam-gene:57217 a ncit:C16612 .
  
  lld:C0021390 a ncit:C7057 .
  
  dgn-gda:DGN9b991a9ec2636d6373a9a2a469b9f459 sio:SIO_000628 miriam-gene:57217, lld:C0021390;
    a sio:SIO_001121 .
}

dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_provenance {
  dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion dcterms:description
      "[Mutations of the tetratricopeptide repeat domain 7A gene have been identified in patients with MIA and other related disorders, including MIA associated with combined immunodeficiency and very early onset inflammatory bowel disease with apoptotic enterocolitis.]. 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:25268403;
    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:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:01+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" .
}