@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg> .
@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 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:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_head {
   this: np:hasAssertion dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_assertion ;
    np:hasProvenance dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_provenance ;
    np:hasPublicationInfo dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_assertion a np:Assertion .
  dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_provenance a np:Provenance .
  dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_assertion {
   miriam-gene:593 a ncit:C16612 .
  lld:C0024776 a ncit:C7057 .
  dgn-gda:DGNd48aba136ddab53a4281e38779053331 sio:SIO_000628 miriam-gene:593 , lld:C0024776 ;
    a sio:SIO_001122 .
}
dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_provenance {
   dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_assertion dc:description "[Maple Syrup Urine Disease (MSUD) in Mennonites is associated with homozygosity for a T to A transversion in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:1885764 ;
    prov:wasDerivedFrom dgn-void:uniprot-20150221 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP1570.RAcMXhqoxPUki65KDROepiS0oAKiYzrfiy6nM0Fwrz_cg130_publicationInfo {
   this: dc:created "2015-08-25T14:37:42+02:00"^^xsd:dateTime ;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dc:rightsHolder dgn-void:IBIGroup ;
    dc:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetv3.0rdf ;
    pav:authoredBy orcid:0000-0001-5999-6269 , orcid:0000-0002-7534-7661 , orcid:0000-0002-9383-528X , orcid:0000-0003-0169-8159 , orcid:0000-0003-1244-7654 ;
    pav:createdBy orcid:0000-0003-0169-8159 ;
    pav:version "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}