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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:triosephosphate isomerase deficiency pathway
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Accession:PW:0001628 term browser browse the term
Definition:The rare autosomal recessive condition is caused by mutations in the triosephosphate isomerase enzyme involved in glycolysis/gluconeogenesis metabolic pathways.
Synonyms:related_synonym: SMP:00563;   triose phosphate-isomerase deficiency pathway


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triosephosphate isomerase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00563 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00563 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00563 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00563 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00563 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00563 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:00563 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00563 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00563 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    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
              triosephosphate isomerase deficiency pathway 22
paths to the root