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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:pyruvate kinase deficiency of red cells pathway
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Accession:PW:0001706 term browser browse the term
Definition:An inherited disorder affecting the red blood cells, resulting from alteration in the pyruvate metabolic pathway and manifesting in hemolytic anemia.
Synonyms:exact_synonym: PK deficiency pathway;   hemolytic anemia due to red cell pyruvate kinase deficiency pathway;   pyruvate kinase deficiency of erythrocyte pathway;   pyruvate kinase deficiency pathway
 related_synonym: SMP:00559


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pyruvate kinase deficiency of red cells 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:00559 NCBI chr10:69,511,627...69,773,888
Ensembl chr10:69,511,857...69,773,888 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00559 NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:62,876,003...62,905,042 		JBrowse link
G Acot12 acyl-CoA thioesterase 12 ISO SMPDB SMP:00559 NCBI chr 2:24,721,648...24,763,686
Ensembl chr 2:24,721,910...24,765,298 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO SMPDB SMP:00559 NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:164,464,055...164,519,830 		JBrowse link
G Acyp1 acylphosphatase 1 ISO SMPDB SMP:00559 NCBI chr 6:110,650,213...110,663,404
Ensembl chr 6:110,650,213...110,663,612 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00559 NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:63,899,222...63,913,315 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00559 NCBI chr12:40,610,244...40,643,220
Ensembl chr12:40,610,224...40,643,219 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00559 NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00559 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G Glo1 glyoxalase 1 ISO SMPDB SMP:00559 NCBI chr20:8,665,061...8,683,095
Ensembl chr20:8,665,061...8,683,191 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO SMPDB SMP:00559 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO SMPDB SMP:00559 NCBI chr10:14,379,400...14,394,046
Ensembl chr10:14,382,410...14,394,043 		JBrowse link
G Ldhd lactate dehydrogenase D ISO SMPDB SMP:00559 NCBI chr19:56,492,827...56,497,695
Ensembl chr19:56,482,924...56,509,197 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO SMPDB SMP:00559 NCBI chr14:99,831,934...99,847,227
Ensembl chr14:99,831,615...99,847,232 		JBrowse link
G Me1 malic enzyme 1 ISO SMPDB SMP:00559 NCBI chr 8:96,429,057...96,540,244
Ensembl chr 8:96,429,057...96,540,275 		JBrowse link
G Me2 malic enzyme 2 ISO SMPDB SMP:00559 NCBI chr18:69,626,073...69,676,218
Ensembl chr18:69,626,087...69,676,218 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00559 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00559 NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:182,348,572...182,354,561 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00559 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00559 NCBI chr15:19,182,789...19,188,731
Ensembl chr15:19,181,208...19,188,976 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00559 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:176,840,764...176,849,644 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of carbohydrate metabolism pathway 125
              inborn error of pyruvate metabolism pathway 41
                pyruvate kinase deficiency of red cells pathway 21
paths to the root