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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-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00181 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acadl acyl-Coenzyme A dehydrogenase, long-chain ISO SMPDB SMP:00181 NCBI chr 1:66,830,839...66,863,309
Ensembl chr 1:66,830,839...66,863,277
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00181 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00181 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00181 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO SMPDB SMP:00181 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00181 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO SMPDB SMP:00181 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00181 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO SMPDB SMP:00181 NCBI chr 8:84,886,387...84,893,921
Ensembl chr 8:84,886,393...84,893,921
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chr 5:30,119,423...30,154,980
Ensembl chr 5:30,118,304...30,155,162
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6067
    disease pathway 2094
      nervous system disease pathway 789
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            ethylmalonic encephalopathy pathway 14
Path 2
Term Annotations click to browse term
  pathway 6067
    disease pathway 2094
      nutritional and metabolic disease pathway 700
        metabolic disease pathway 660
          inborn error of metabolism pathway 529
            inborn error of brain metabolic pathway 319
              ethylmalonic encephalopathy pathway 14
paths to the root