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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: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 1:190,832,820...190,838,021
Ensembl chr 1:190,832,820...190,838,211 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00563 NCBI chr 6:78,674,945...78,676,635
Ensembl chr 6:78,673,353...78,680,406 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chr 4:64,106,809...64,135,749
Ensembl chr 4:64,106,804...64,135,627 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00563 NCBI chr 5:166,002,867...166,014,252
Ensembl chr 3:77,946,261...77,986,003
Ensembl chr 5:77,946,261...77,986,003 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chr17:2,212,941...2,235,749
Ensembl chr17:2,213,492...2,235,746 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00563 NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,757,899...86,818,033 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00563 NCBI chr 6:20,589,775...20,641,516
Ensembl chr 6:20,589,776...20,644,417 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:95,965,396...95,993,261 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chr 4:116,792,258...116,841,275
Ensembl chr 4:116,792,258...116,841,275 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00563 NCBI chr12:26,530,886...26,543,841
Ensembl chr12:26,530,881...26,543,841 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00563 NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chr 1:241,737,371...241,808,126
Ensembl chr 1:241,741,083...241,807,824 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00563 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:00563 NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:182,348,572...182,354,561 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chr 1:250,673,152...250,680,762
Ensembl chr 1:250,673,049...250,690,203 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563 NCBI chr14:84,895,763...84,897,874
Ensembl chr14:84,895,744...84,897,894 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:119,710,737...119,770,159 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,855,979...55,859,060 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:113,537,972...113,568,467 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chr 8:53,619,952...53,626,110
Ensembl chr 8:53,620,141...53,626,110 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		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
              triosephosphate isomerase deficiency pathway 22
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