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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:Leigh disease pathway
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Accession:PW:0001416 term browser browse the term
Definition:A neurometabolic disorder affecting the central nervous system, caused by defects in mitochondrial and/or nuclear genes involved in energy metabolic pathways.
Synonyms:exact_synonym: Infantile necrotizing encephalomyelopathy pathway;   Leigh syndrome pathway;   juvenile subacute necrotizing encephalomyelopathy pathway;   subacute necrotizing encephalomyelopathy pathway
 related_synonym: SMP:00196


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Leigh disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO SMPDB SMP:00196 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00196 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00196 NCBI chr 2:20,857,056...20,901,656
Ensembl chr 2:20,857,202...20,901,659
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00196 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00196 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00196 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00196 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00196 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00196 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00196 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00196 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00196 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00196 NCBI chr19:43,826,989...43,848,937
Ensembl chr19:43,826,993...43,848,937
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00196 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00196 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00196 NCBI chr18:69,737,515...69,784,099
Ensembl chr18:69,738,686...69,784,099
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00196 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00196 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00196 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00196 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00196 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            Leigh disease pathway 21
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            inborn error of carbohydrate metabolism pathway 124
              inborn error of pyruvate metabolism pathway 41
                Leigh disease pathway 21
paths to the root