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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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00181 NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00181 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00181 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00181 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00181 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00181 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00181 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00181 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00181 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00181 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00181 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00181 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00181 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4036
    disease pathway 700
      nervous system disease pathway 438
        brain disease pathway 347
          inborn error of brain metabolic pathway 316
            ethylmalonic encephalopathy pathway 14
Path 2
Term Annotations click to browse term
  pathway 4036
    disease pathway 700
      nutritional and metabolic disease pathway 571
        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