@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ> .
@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:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_head {
  this: np:hasAssertion dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion;
    np:hasProvenance dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_provenance;
    np:hasPublicationInfo dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion a np:Assertion .
  
  dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_provenance a np:Provenance .
  
  dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion {
  miriam-gene:2022 a ncit:C16612 .
  
  lld:C0039445 a ncit:C7057 .
  
  dgn-gda:DGNe479607698acc1b35d369c245ad398de sio:SIO_000628 miriam-gene:2022, lld:C0039445;
    a sio:SIO_001122 .
}

dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_provenance {
  dgn-np:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion dct:description
      "[Additionally, due to the lack of large pedigrees suitable for linkage analysis, and since SMAD4 germline mutations have been reported in families with combined HHT and juvenile polyposis, we screened this gene and five other genes involved in the TGF-beta/BMP pathway in the patients without mutation of ENG or ACVRL1.]. 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:16705692;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_publicationInfo {
  this: dct:created "2014-10-02T12:32:20+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}