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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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00563 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00563 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00563 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00563 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pc glucose-6-phosphatase, catalytic subunit ISO SMPDB SMP:00563 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00563 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00563 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00563 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00563 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00563 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00563 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00563 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00563 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:00563 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00563 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00563 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00563 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00563 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00563 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00563 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00563 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link

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  pathway 6103
    disease pathway 1953
      congenital disease pathway 528
        inborn genetic disease pathway 528
          inborn error of metabolism pathway 528
            inborn error of carbohydrate metabolism pathway 124
              triosephosphate isomerase deficiency pathway 22
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