@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY> .
@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:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_head {
  this: np:hasAssertion dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion;
    np:hasProvenance dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_provenance;
    np:hasPublicationInfo dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion a np:Assertion .
  
  dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_provenance a np:Provenance .
  
  dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion {
  miriam-gene:4693 a ncit:C16612 .
  
  lld:C0266526 a ncit:C7057 .
  
  dgn-gda:DGN38d1717283b31abb69ccd5462aa34687 sio:SIO_000628 miriam-gene:4693, lld:C0266526;
    a sio:SIO_001122 .
}

dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_provenance {
  dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion dcterms:description
      "[Mutation analysis of the ND gene (NDP) revealed two different novel missense mutations (L16P and S75P) that co-segregated with ND in each family, suggesting that the newly appearing proline at codon 16 or codon 75 alters the conformation of the ND protein and contributes to the severe phenotype of ND in each family.]. 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:11337749;
    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:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_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" .
}