@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4> .
@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:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_head {
  this: np:hasAssertion dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_assertion;
    np:hasProvenance dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_provenance;
    np:hasPublicationInfo dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_assertion a np:Assertion .
  
  dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_provenance a np:Provenance .
  
  dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_assertion {
  miriam-gene:2194 a ncit:C16612 .
  
  lld:C1328840 a ncit:C7057 .
  
  dgn-gda:DGNeb0aea00f8e9e7f9db9959892daf4cc5 sio:SIO_000628 miriam-gene:2194, lld:C1328840;
    a sio:SIO_001121 .
}

dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_provenance {
  dgn-np:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_assertion dcterms:description
      "[A role for other modifying genes was suggested by the finding that the healthy father exhibited defective Fas function, without mutation of the FAS gene, and had transmitted to the patient an osteopontin (OPN) gene variant previously associated with ALPS.]. 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:24043286;
    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:NP1111466.RAgvjgGlKgiOJpYBbhHfGJ9H9LSkXc-vHuiSubJhS4-G4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:09+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" .
}