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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:ethylmalonic encephalopathy pathway
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Accession:PW:0002206 term browser browse the term
Definition:An autosomal recessive metabolic disorder affecting the brain and peripheral vessels and manifested in infancy. Genetic studies identify defects in the ETHE1 gene, a mitochondrial resident gene product, thus pointing to implications in many aspects of mitochondrial metabolism and homeostasis.
Synonyms:exact_synonym: ethylmalonic encephalopathy disease pathway
 related_synonym: SMP:00181


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ethylmalonic encephalopathy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00181 NCBI chrNW_004936497:13,242,644...13,269,007 JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chrNW_004936845:66,674...96,248 JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chrNW_004936668:257,214...272,089 JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chrNW_004936486:11,668,099...11,707,946 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chrNW_004936551:594,647...626,016 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chrNW_004936599:1,491,934...1,535,101 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chrNW_004936486:19,488,619...19,496,583 JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chrNW_004936659:1,955,601...1,961,925 JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chrNW_004936493:6,182,786...6,224,601 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chrNW_004936493:6,139,717...6,182,792 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3946
    disease pathway 686
      nervous system disease pathway 432
        brain disease pathway 340
          inborn error of brain metabolic pathway 310
            ethylmalonic encephalopathy pathway 14
Path 2
Term Annotations click to browse term
  pathway 3946
    disease pathway 686
      nutritional and metabolic disease pathway 557
        metabolic disease pathway 522
          inborn error of metabolism pathway 506
            inborn error of brain metabolic pathway 310
              ethylmalonic encephalopathy pathway 14
paths to the root