@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac> .
@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/v3.0.0/void/> .

dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_head {
  this: np:hasAssertion dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_assertion;
    np:hasProvenance dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_provenance;
    np:hasPublicationInfo dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_assertion a np:Assertion .
  
  dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_provenance a np:Provenance .
  
  dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_assertion {
  miriam-gene:22931 a ncit:C16612 .
  
  lld:C1838625 a ncit:C7057 .
  
  dgn-gda:DGN851d3007cc171b59d61850e556371eec sio:SIO_000628 miriam-gene:22931, lld:C1838625;
    a sio:SIO_001121 .
}

dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_provenance {
  dgn-np:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_assertion dcterms:description
      "[Genotype-phenotype correlations for these genes have now established that the clinical phenotypes in Micro syndrome and MS represent a phenotypic continuum related to the nature and severity of the mutations present in the disease genes, with more deleterious mutations causing Micro syndrome and milder mutations causing MS. RAB18 has not yet been linked to the RAB3 pathways, but mutations in all three genes cause an indistinguishable phenotype, making it likely that there is some overlap.]. 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:23420520;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP866071.RADu7D16P9VKjGIIF4l6AVAVqfpL9s1lGEFyUzxuzF-ac130_publicationInfo {
  this: dcterms:created "2015-08-25T14:46:26+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}