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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 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chr17:20,355,778...20,399,869 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4033
    disease pathway 714
      nervous system disease pathway 446
        brain disease pathway 344
          inborn error of brain metabolic pathway 316
            ethylmalonic encephalopathy pathway 14
Path 2
Term Annotations click to browse term
  pathway 4033
    disease pathway 714
      nutritional and metabolic disease pathway 573
        metabolic disease pathway 533
          inborn error of metabolism pathway 517
            inborn error of brain metabolic pathway 316
              ethylmalonic encephalopathy pathway 14
paths to the root