@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8> .
@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:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_head {
  this: np:hasAssertion dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion;
    np:hasProvenance dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance;
    np:hasPublicationInfo dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion a np:Assertion .
  
  dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance a np:Provenance .
  
  dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion {
  miriam-gene:35 a ncit:C16612 .
  
  lld:C0342783 a ncit:C7057 .
  
  dgn-gda:DGNad91dcfd4f16459f58b70cf3419ee6af sio:SIO_000628 miriam-gene:35, lld:C0342783;
    a sio:SIO_001122 .
}

dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance {
  dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion dcterms:description
      "[Expression of the variant R147W SCAD protein, encoded by the 511T-625G allele, in COS-7 cells showed 45% activity at 37 degrees C in comparison with the wild-type protein, comparable levels of activity at 26 degrees C, and 13% activity when incubated at 41 degrees C. This temperature profile is different from that observed for the variant G185S SCAD protein, encoded by the 511C-625A allele, where higher than normal activity was found at 26 and 37 degrees C, and 58% activity was present at 41 degrees C. These results corroborate the notion that the 511C-625A variant allele is one of the possible underlying causes of ethylmalonic aciduria, and suggest that the 511C--&gt;T mutation represents a second susceptibility variation in the SCAD gene.]. 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:9499414;
    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:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_publicationInfo {
  this: dcterms:created "2015-08-25T14:37:42+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 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" .
}