@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_head {
  this: np:hasAssertion dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_assertion;
    np:hasProvenance dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_provenance;
    np:hasPublicationInfo dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_assertion a np:Assertion .
  
  dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_provenance a np:Provenance .
  
  dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_assertion {
  miriam-gene:3815 a ncit:C16612 .
  
  lld:C3266898 a ncit:C7057 .
  
  dgn-gda:DGN9601f26ef56b731d60d51719bf7b4475 sio:SIO_000628 miriam-gene:3815, lld:C3266898;
    a sio:SIO_001121 .
}

dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_provenance {
  dgn-np:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_assertion dcterms:description
      "[Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.]. 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:9450866;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP499751.RAcRCI2vFFywwp0UIelqpchDoMExY7pSq_GYB3EpP_mfc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:58+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}