@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k> .
@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:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_head {
  this: np:hasAssertion dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion;
    np:hasProvenance dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_provenance;
    np:hasPublicationInfo dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion a np:Assertion .
  
  dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_provenance a np:Provenance .
  
  dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion {
  miriam-gene:8546 a ncit:C16612 .
  
  lld:C0078918 a ncit:C7057 .
  
  dgn-gda:DGN7d0a4a5feacbc1004cf3b128e8dd492e sio:SIO_000628 miriam-gene:8546, lld:C0078918;
    a sio:SIO_001121 .
}

dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_provenance {
  dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion dcterms:description
      "[Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutations in these genes when albinism is observed.]. 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:25312756;
    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:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:03+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" .
}