@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0> .
@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:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_head {
  this: np:hasAssertion dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion ;
    np:hasProvenance dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance ;
    np:hasPublicationInfo dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion a np:Assertion .
  dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance a np:Provenance .
  dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion {
  miriam-gene:822 a ncit:C16612 .
  lld:C0018801 a ncit:C7057 .
  dgn-gda:DGNebf2f8ce199691a741ff82e0753cad40 sio:SIO_000628 miriam-gene:822 , lld:C0018801 ;
    a sio:SIO_001121 .
}
dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance {
  dgn-np:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion dcterms:description "[Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia).]. 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:15009163 ;
    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:NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:20+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: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" .
}