@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA> .
@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:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_head {
  this: np:hasAssertion dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion;
    np:hasProvenance dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_provenance;
    np:hasPublicationInfo dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion a np:Assertion .
  
  dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_provenance a np:Provenance .
  
  dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion {
  miriam-gene:1738 a ncit:C16612 .
  
  lld:C0024776 a ncit:C7057 .
  
  dgn-gda:DGNafcb1b6c74e702f583c27d723ec4b785 sio:SIO_000628 miriam-gene:1738, lld:C0024776;
    a sio:SIO_001121 .
}

dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_provenance {
  dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion dcterms:description
      "[Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the BCKDHA, BCKDHB, DBT and DLD genes, which encode the E1α, E1β, E2 and E3 subunits of the branched chain α ketoacid dehydrogenase (BCKD) complex, respectively.]. 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:25381949;
    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:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:06+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" .
}