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Pathways
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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:fumaric aciduria pathway
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Accession:PW:0002098 term browser browse the term
Definition:A severe autosomal recessive metabolic disorder resulting from defects in the fumarate hydratase enzyme and manifesting in early-onset hypotonia, psychomotor and brain abnormalities.
Synonyms:exact_synonym: fumaric aciduria disease pathway
 related_synonym: SMP:00547;   fumarase deficiency pathway


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fumaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00547 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00547 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00547 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00547 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00547 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00547 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00547 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00547 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00547 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00547 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00547 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00547 NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00547 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00547 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00547 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00547 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00547 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00547 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00547 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00547 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00547 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 530
            fumaric aciduria pathway 21
Path 2
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nervous system disease pathway 761
        neurological disorder pathway 69
          neuromuscular manifestation of disease pathway 40
            muscle hypotonia disorder pathway 21
              fumaric aciduria pathway 21
paths to the root