@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ> .
@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:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_head {
  this: np:hasAssertion dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion;
    np:hasProvenance dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion a np:Assertion .
  
  dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_provenance a np:Provenance .
  
  dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion {
  miriam-gene:3081 a ncit:C16612 .
  
  lld:C0002066 a ncit:C7057 .
  
  dgn-gda:DGNc8248ff9094ae7d450a8e956c60f8c4f sio:SIO_000628 miriam-gene:3081, lld:C0002066;
    a sio:SIO_001121 .
}

dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_provenance {
  dgn-np:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_assertion dcterms:description
      "[We show that HGO maps to the same location described for AKU, illustrate that HGO harbours missense mutations that cosegregate with the disease, and provide biochemical evidence that at least one of these missense mutations is a loss-of-function mutation.]. 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:8782815;
    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:NP1356535.RAlMpI_M2wSg7euluJz5Atl9MO53NjLRC3eObgYS5qeKQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:01+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" .
}