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Pathways
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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


show annotations for term's descendants           Sort by:
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 1:99,284,140...99,311,321 		JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,506...112,969,577 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,381...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 chr14:40,642,881...40,659,081 		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 chr12:52,576,402...52,581,748 		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 chr15:45,866,857...45,963,729 		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...4,293,911 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,422...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 chr14:141,339,364...141,348,994 		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...112,797,733 		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 3:112,704,024...112,753,086 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4047
    disease pathway 712
      nervous system disease pathway 445
        brain disease pathway 346
          inborn error of brain metabolic pathway 317
            ethylmalonic encephalopathy pathway 14
Path 2
Term Annotations click to browse term
  pathway 4047
    disease pathway 712
      nutritional and metabolic disease pathway 574
        metabolic disease pathway 535
          inborn error of metabolism pathway 518
            inborn error of brain metabolic pathway 317
              ethylmalonic encephalopathy pathway 14
paths to the root