@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM> .
@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 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:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_head {
  this: np:hasAssertion dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_assertion;
    np:hasProvenance dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_provenance;
    np:hasPublicationInfo dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_assertion a np:Assertion .
  
  dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_provenance a np:Provenance .
  
  dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_assertion {
  miriam-gene:4598 a ncit:C16612 .
  
  lld:C0398691 a ncit:C7057 .
  
  dgn-gda:DGN1c6fd7cd91fbad8e38bfd6455765bdd2 sio:SIO_000628 miriam-gene:4598, lld:C0398691;
    a sio:SIO_001122 .
}

dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_provenance {
  dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_assertion dcterms:description
      "[Sequence analysis of 27 HIDS and MA patients confirmed all previously reported genotypes based on cDNA analysis and identified six novel nucleotide substitutions resulting in missense or nonsense mutations, providing new insights in the genotype/phenotype relation between HIDS and MA.]. 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:11313768;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP1379.RAglzogvfj3qyZ3J61S5mNlDMpgeDUWGGHFSWN1BDmXlM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:50+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 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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}