@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU> .
@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:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_head {
   this: np:hasAssertion dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_assertion ;
    np:hasProvenance dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance ;
    np:hasPublicationInfo dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_assertion a np:Assertion .
  dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance a np:Provenance .
  dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_assertion {
   miriam-gene:822 a ncit:C16612 .
  lld:C0018802 a ncit:C7057 .
  dgn-gda:DGN63795b1ab227f97788a25a075a9af6de sio:SIO_000628 miriam-gene:822 , lld:C0018802 ;
    a sio:SIO_001121 .
}
dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance {
   dgn-np:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_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:NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_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" .
}