@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg> .
@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:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_head {
  this: np:hasAssertion dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_assertion;
    np:hasProvenance dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_provenance;
    np:hasPublicationInfo dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_assertion a np:Assertion .
  
  dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_provenance a np:Provenance .
  
  dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_assertion {
  miriam-gene:10083 a ncit:C16612 .
  
  lld:C2931205 a ncit:C7057 .
  
  dgn-gda:DGN362b43a2b842ef6702c4313c18ec6f43 sio:SIO_000628 miriam-gene:10083, lld:C2931205;
    a sio:SIO_001121 .
}

dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_provenance {
  dgn-np:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_assertion dcterms:description
      "[It also deletes all but two of the 28 exons of the USH1C gene, which causes Usher syndrome and is important for the normal development and function of the ear and the eye, the gastrointestinal tract, and the kidney, thereby accounting for the symptoms of deafness, vestibular dysfunction and retinal dystrophy seen in type 1 Usher syndrome, diarrhoea, malabsorption, and tubulopathy.]. 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:15645695;
    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:NP629652.RAUM8XafQaZDI9rlfanfkMM5BA0eNOcIXKrI2opw3efKg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:20+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" .
}