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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 EXP SMPDB SMP:00181 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP SMPDB SMP:00181 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00181 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00181 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00181 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain EXP SMPDB SMP:00181 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00181 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP SMPDB SMP:00181 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP SMPDB SMP:00181 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 EXP SMPDB SMP:00181 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00181 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G GCDH glutaryl-CoA dehydrogenase EXP SMPDB SMP:00181 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP SMPDB SMP:00181 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP SMPDB SMP:00181 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5957
    disease pathway 2076
      nervous system disease pathway 768
        brain disease pathway 353
          inborn error of brain metabolic pathway 322
            ethylmalonic encephalopathy pathway 14
Path 2
Term Annotations click to browse term
  pathway 5957
    disease pathway 2076
      nutritional and metabolic disease pathway 694
        metabolic disease pathway 650
          inborn error of metabolism pathway 536
            inborn error of brain metabolic pathway 322
              ethylmalonic encephalopathy pathway 14
paths to the root