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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 chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,498...112,969,578
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4028
    disease pathway 711
      nervous system disease pathway 446
        brain disease pathway 348
          inborn error of brain metabolic pathway 319
            ethylmalonic encephalopathy pathway 14
Path 2
Term Annotations click to browse term
  pathway 4028
    disease pathway 711
      nutritional and metabolic disease pathway 574
        metabolic disease pathway 536
          inborn error of metabolism pathway 519
            inborn error of brain metabolic pathway 319
              ethylmalonic encephalopathy pathway 14
paths to the root