GLUCONEOGENESIS PATHWAY (PW:0000641)
Description
Glucose is a major source of energy in the cell. If the liver has been depleted of its stores of glycogen or glucose is not available from dietary sources, glucose synthesis occurs via the gluconeogenesis pathway. Gluconeogenic precursors include the glycolytic pyruvate or lactate, citric acid cycle intermediates and the carbon skeletons of amino acids. Whatever the precursor, it first has to be converted to oxaloacetate (a four-carbon compound and a citric acid cycle intermediate). From pyruvate to PEP, the inverse of reaction 10 of glycolysis is carried out in two steps. In step 1 pyruvate carboxylase (Pc) converts pyruvate to oxaloacetate which is converted to PEP by PEP carboxykinase (Pck) in step 2. Reaction 10 of glycolysis, as well as reactions 3 and 1 are exergonic; thus, the reverse steps must be carried out by enzymes that can render them thermodynamically favorable. The enzymes unique to gluconegenesis are colored purple to distinguish them from enzymes that are shared by both pathways. Pc is a biotin-containing enzyme allosterically regulated by acetyl-CoA and aspartate. The formation of oxaloacetate from pyruvate or citric acid cycle intermediates occurs in the mitochondrion whereas the PEP to glucose pathway is cytosolic. PEP transport across the mitochondrial membrane is carried out by specific transporters; oxaloacetate transport requires conversion to either aspartate (known as Route 1) or to malate (Route 2). The aspartate aminotransferase route (1) and the malate dehydrogenase route (2) differ in that the latter involves the transport of reducing equivalents. From PEP to FBP, the reactions are mediated by the glycolytic enzymes working in reverse. The hydrolysis of FBP to F6P and the hydrolysis of G6P to glucose are catalyzed by gluconeogenesis-specific enzymes. FBP is hydrolyzed by fructose-1,6-bisphosphatase (Fbp); G6P is hydrolyzed by glucose-6-phosphatase. Fbp(s) are inhibited by F2,6P. The net concentration of F2,6P is the outcome of its synthesis/degradation cycle catalyzed by a 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (Pfkfb) bifunctional enzyme. The kinase and the phosphatase activities lie in the N-terminal and C-terminal half of the protein, respectively. The expression of the four mammalian genes is regulated by hormones and tissue-specificity; phosphorylation and dephosphorylation events regulate protein function.
To see the ontology report for annotations, GViewer and download click here [click to see the ontology report for associated GO term -
GO:0006094 , related KEGG map -
map00010 and entry at
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Pathway Diagram:
Genes in Pathway:
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Acss1
acyl-CoA synthetase short-chain family member 1
IEA
KEGG
rno:00010
NCBI chr 3:159,910,809...159,960,748
Ensembl chr 3:139,450,383...139,500,325
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Acss2
acyl-CoA synthetase short-chain family member 2
IEA
KEGG
rno:00010
NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:144,004,336...144,059,675
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Adh4
alcohol dehydrogenase 4 (class II), pi polypeptide
IEA
KEGG
rno:00010
NCBI chr 2:229,622,092...229,640,120
Ensembl chr 2:226,947,466...226,987,591
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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
IEA
KEGG
rno:00010
NCBI chr 2:229,648,557...229,660,964
Ensembl chr 2:226,947,466...226,987,591
G
Adh6
alcohol dehydrogenase 6 (class V)
IEA
KEGG
rno:00010
NCBI chr 2:226,903,208...226,934,564
Ensembl chr 2:226,903,250...226,934,534
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Adh7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
IEA
KEGG
rno:00010
NCBI chr 2:229,422,125...229,436,584
Ensembl chr 2:226,741,788...226,763,182
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Adpgk
ADP-dependent glucokinase
IEA
KEGG
rno:00010
NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
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Akr1a1
aldo-keto reductase family 1 member A1
IEA
KEGG
rno:00010
NCBI chr 5:135,329,605...135,367,037
Ensembl chr 5:130,092,732...130,113,674
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Aldh1a1
aldehyde dehydrogenase 1 family, member A1
IEA
KEGG
rno:00010
NCBI chr 1:227,426,939...227,579,497
Ensembl chr 1:218,042,127...218,152,961
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Aldh1a3
aldehyde dehydrogenase 1 family, member A3
IEA
KEGG
rno:00010
NCBI chr 1:129,392,516...129,436,552
Ensembl chr 1:119,982,277...120,017,436
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Aldh1a7
aldehyde dehydrogenase family 1, subfamily A7
IEA
KEGG
rno:00010
NCBI chr 1:218,201,443...218,241,410
Ensembl chr 1:218,201,472...218,248,906
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Aldh1b1
aldehyde dehydrogenase 1 family, member B1
IEA
KEGG
rno:00010
NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
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Aldh2
aldehyde dehydrogenase 2 family member
IEA
KEGG
rno:00010
NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
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Aldh3a1
aldehyde dehydrogenase 3 family, member A1
IEA
KEGG
rno:00010
NCBI chr10:46,392,464...46,402,151
Ensembl chr10:45,892,924...45,902,681
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Aldh3a2
aldehyde dehydrogenase 3 family, member A2
IEA
KEGG
rno:00010
NCBI chr10:46,427,789...46,448,449
Ensembl chr10:45,908,524...45,949,281
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Aldh3b1
aldehyde dehydrogenase 3 family, member B1
IEA
KEGG
rno:00010
NCBI chr 1:210,574,545...210,605,188
Ensembl chr 1:201,145,309...201,163,921
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Aldh7a1
aldehyde dehydrogenase 7 family, member A1
IEA
KEGG
rno:00010
NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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Aldh9a1
aldehyde dehydrogenase 9 family, member A1
IEA
KEGG
rno:00010
NCBI chr13:82,038,679...82,055,478
Ensembl chr13:79,505,695...79,540,568
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Aldoa
aldolase, fructose-bisphosphate A
ISO IEA
SMPDB KEGG RGD
PMID:5251864
SMP:00128 rno:00010, RGD:2302796
NCBI chr 1:190,832,820...190,838,021
Ensembl chr 1:181,402,275...181,406,182
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Aldoart2
aldolase 1 A retrogene 2
ISO
SMPDB RGD
PMID:5251864
RGD:2302796 SMP:00128
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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Aldob
aldolase, fructose-bisphosphate B
ISO IEA
KEGG RGD
PMID:5251864
rno:00010, RGD:2302796
NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:63,889,046...63,902,116
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Aldoc
aldolase, fructose-bisphosphate C
IEA
KEGG
rno:00010
NCBI chr10:63,715,544...63,719,133
Ensembl chr10:63,217,451...63,221,066
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Bpgm
bisphosphoglycerate mutase
IEA ISO
KEGG SMPDB
SMP:00128 rno:00010
NCBI chr 4:64,106,809...64,135,749
Ensembl chr 4:63,140,018...63,168,581
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Dlat
dihydrolipoamide S-acetyltransferase
IEA
KEGG
rno:00010
NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:50,978,051...51,004,479 Ensembl chr 1:50,978,051...51,004,479
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Dld
dihydrolipoamide dehydrogenase
IEA
KEGG
rno:00010
NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:47,903,914...47,924,795
G
Eno1
enolase 1
IMP ISO IEA
SMPDB KEGG RGD
PMID:2966075
SMP:00128 rno:00010, RGD:2302802
NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336 Ensembl chr 3:160,719,951...160,731,336
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Eno2
enolase 2
IDA IEA
KEGG RGD
PMID:15720133
rno:00010, RGD:2302795
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980
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Eno3
enolase 3
IEA
KEGG
rno:00010
NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921
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Fbp1
fructose-bisphosphatase 1
IDA ISO IEA
SMPDB KEGG RGD
PMID:4353083 PMID:11440903
SMP:00128 rno:00010, RGD:2302851 , RGD:2302970
NCBI chr17:2,212,941...2,235,749
Ensembl chr17:2,208,031...2,230,071
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Fbp2
fructose-bisphosphatase 2
IDA IEA
KEGG RGD
PMID:4353083 PMID:11440903
rno:00010, RGD:2302851 , RGD:2302970
NCBI chr17:2,241,767...2,259,371
Ensembl chr17:2,236,336...2,253,698
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G6pc1
glucose-6-phosphatase catalytic subunit 1
IDA ISO IEA
SMPDB KEGG RGD
PMID:4303362 PMID:11440903 PMID:4353083
SMP:00128 rno:00010, RGD:2302850 , RGD:2302970 , RGD:2302851
NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,257,668...86,333,804
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G6pc3
glucose 6 phosphatase catalytic subunit 3
IDA
RGD
PMID:4303362 PMID:11440903 PMID:4353083
RGD:2302850 , RGD:2302970 , RGD:2302851
NCBI chr10:87,647,149...87,651,385
Ensembl chr10:87,146,901...87,151,221
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Galm
galactose mutarotase
IEA ISO
KEGG SMPDB
SMP:00128 rno:00010
NCBI chr 6:20,589,775...20,641,516
Ensembl chr 6:14,837,548...14,889,310
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IDA ISO IEA
SMPDB KEGG RGD
PMID:15720133
SMP:00128 rno:00010, RGD:2302795
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
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Gapdh-ps118
Glyceraldehyde-3-phosphate dehydrogenase, pseudogene 118
IEA
KEGG
rno:00010
NCBI chr18:61,626,988...61,628,224
Ensembl chr 4:157,962,343...157,966,235
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Gapdhl10
glyceraldehyde-3-phosphate dehydrogenase like 10
IEA
KEGG
rno:00010
NCBI chr16:15,370,290...15,371,300
Ensembl chr16:15,370,293...15,371,300
G
Gapdhl3
glyceraldehyde-3-phosphate dehydrogenase like 3
IEA
KEGG
rno:00010
NCBI chr15:77,324,675...77,471,131
G
Gapdhl9
glyceraldehyde-3-phosphate dehydrogenase like 9
IEA
KEGG
rno:00010
NCBI chr 2:210,784,633...210,785,652
G
Gapdhs
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
IEA
KEGG
rno:00010
NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640
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Gck
glucokinase
IEA
KEGG
rno:00010
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
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Got1
glutamic-oxaloacetic transaminase 1
IMP
RGD
PMID:2966075
RGD:2302802
NCBI chr 1:252,306,541...252,337,622
Ensembl chr 1:242,357,306...242,380,633
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Got2
glutamic-oxaloacetic transaminase 2
IMP
RGD
PMID:2966075
RGD:2302802
NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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Gpi
glucose-6-phosphate isomerase
IEA ISO
KEGG SMPDB
SMP:00128 rno:00010
NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086
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Hk1
hexokinase 1
IEA
KEGG
rno:00010
NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131
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Hk2
hexokinase 2
IEA ISO
KEGG SMPDB
SMP:00128 rno:00010
NCBI chr 4:116,792,258...116,841,275
Ensembl chr 4:115,234,509...115,283,530
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Hk3
hexokinase 3
IEA
KEGG
rno:00010
NCBI chr17:9,602,119...9,620,038
Ensembl chr17:9,599,865...9,614,863
G
Ldha
lactate dehydrogenase A
IEA
KEGG
rno:00010
NCBI chr 1:106,508,092...106,517,512
Ensembl chr 1:97,366,021...97,433,472
G
Ldhal1
lactate dehydrogenase A like 1
IEA
KEGG
rno:00010
NCBI chr 8:30,363,220...30,364,836
G
Ldhal6b
lactate dehydrogenase A-like 6B
IEA
KEGG
rno:00010
NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272
G
Ldhb
lactate dehydrogenase B
IEA
KEGG
rno:00010
NCBI chr 4:177,159,389...177,177,408
Ensembl chr 4:175,428,385...175,446,403
G
Ldhc
lactate dehydrogenase C
IEA
KEGG
rno:00010
NCBI chr 1:106,522,140...106,539,649
Ensembl chr 1:97,382,379...97,403,378
G
Mdh2
malate dehydrogenase 2
ISO
SMPDB
SMP:00128
NCBI chr12:26,530,886...26,543,841
Ensembl chr12:20,894,262...20,907,271
G
Mpc1
mitochondrial pyruvate carrier 1
ISO
SMPDB
SMP:00128
NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400
G
Pank1
pantothenate kinase 1
ISO
SMPDB
SMP:00128
NCBI chr 1:241,737,371...241,808,126
Ensembl chr 1:232,328,430...232,396,829
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Pc
pyruvate carboxylase
ISO IDA
SMPDB RGD
PMID:18613815 PMID:4353083
SMP:00128, RGD:2302809 , RGD:2302851
NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:201,804,267...201,898,380
G
Pck1
phosphoenolpyruvate carboxykinase 1
IMP ISO IEA IDA
SMPDB KEGG RGD
PMID:2966075 PMID:6049928 PMID:11440903 PMID:4353083 PMID:4303362 PMID:18613815 More...
SMP:00128 rno:00010, RGD:2302802 , RGD:2302971 , RGD:2302970 , RGD:2302851 , RGD:2302850 , RGD:2302809
NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:161,930,256...161,936,191
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
IMP IEA ISO IDA
KEGG RGD
PMID:2966075 PMID:18613815 PMID:4353083 PMID:11440903 PMID:6049928
rno:00010, RGD:2302802 , RGD:2302809 , RGD:2302851 , RGD:2302970 , RGD:2302971
NCBI chr15:32,997,853...33,006,691
Ensembl chr15:29,027,894...29,037,283
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
IEA
KEGG
rno:00010
NCBI chr X:38,509,158...38,522,986
Ensembl chr X:34,700,409...34,714,311
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Pdha2
pyruvate dehydrogenase E1 subunit alpha 2
IEA
KEGG
rno:00010
NCBI chr 2:232,545,550...232,547,098
G
Pdhb
pyruvate dehydrogenase E1 subunit beta
IEA
KEGG
rno:00010
NCBI chr15:19,182,789...19,188,731
Ensembl chr15:16,750,980...16,758,500
G
Pfkfb1
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
TAS
RGD
PMID:15170386
RGD:2302793
NCBI chr X:22,936,038...22,989,691
Ensembl chr X:19,508,546...19,562,182
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Pfkl
phosphofructokinase, liver type
IEA
KEGG
rno:00010
NCBI chr20:10,663,907...10,685,967
Ensembl chr20:10,664,272...10,686,315
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Pfkm
phosphofructokinase, muscle
IEA
KEGG
rno:00010
NCBI chr 7:131,100,684...131,138,250
Ensembl chr 7:129,221,653...129,259,192
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Pfkp
phosphofructokinase, platelet
IEA
KEGG
rno:00010
NCBI chr17:68,639,749...68,704,055
Ensembl chr17:63,729,780...63,794,018
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Pgam1
phosphoglycerate mutase 1
IEA ISO
KEGG SMPDB
SMP:00128 rno:00010
NCBI chr 1:250,673,152...250,680,762
Ensembl chr 1:240,723,920...240,738,452
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Pgam2
phosphoglycerate mutase 2
ISO IEA IDA
SMPDB KEGG RGD
PMID:18092946 PMID:15720133
SMP:00128 rno:00010, RGD:2302794 , RGD:2302795
NCBI chr14:84,895,763...84,897,874
Ensembl chr14:80,681,776...80,683,940
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Pgk1
phosphoglycerate kinase 1
IDA IEA IMP
KEGG RGD
PMID:15720133 PMID:3091090
rno:00010, RGD:2302795 , RGD:2302860
NCBI chr X:75,336,988...75,352,962
Ensembl chr X:71,271,440...71,287,418
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Pgk1l1
phosphoglycerate kinase 1 like 1
IEA
KEGG
rno:00010
NCBI chr 2:44,487,980...44,489,330
Ensembl chr 2:42,754,639...42,755,856
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Pgk2
phosphoglycerate kinase 2
IEA
KEGG
rno:00010
NCBI chr 9:27,976,913...27,978,479
Ensembl chr 9:20,480,203...20,571,481
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Pgm1
phosphoglucomutase 1
IEA ISO
KEGG SMPDB
SMP:00128 rno:00010
NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:114,595,293...114,654,728
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Pklr
pyruvate kinase L/R
IEA
KEGG
rno:00010
NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:174,543,039...174,551,870
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Slc25a11
solute carrier family 25 member 11
ISO
SMPDB
SMP:00128
NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,357,597...55,360,410
G
Slc2a2
solute carrier family 2 member 2
ISO
SMPDB
SMP:00128
NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:111,611,774...111,639,933
G
Slc37a4
solute carrier family 37 member 4
ISO
SMPDB
SMP:00128
NCBI chr 8:53,619,952...53,626,110
Ensembl chr 8:44,723,339...44,729,301
G
Tpi1
triosephosphate isomerase 1
IEA ISO
KEGG SMPDB
SMP:00128 rno:00010
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541
G
Tpi1l2
triosephosphate isomerase 1 like 2
IEA
KEGG
rno:00010
NCBI chr17:27,307,380...28,230,998
Ensembl chr17:27,101,431...27,102,809
Pathway Gene Annotations
Disease Annotations Associated with Genes in the gluconeogenesis pathway
Acss1 Experimental Melanoma , Hypothermia Acss2 Experimental Melanoma , glutathione synthetase deficiency , glutatione synthetase deficiency with 5-oxoprolinuria , Inflammation , long QT syndrome , lymphangioleiomyomatosis , morbid obesity , orofacial cleft Adh4 alcohol dependence , autism spectrum disorder , Binge Drinking , Cluster Headache , Experimental Liver Cirrhosis , hepatocellular carcinoma , metabolic dysfunction-associated steatotic liver disease , Prenatal Exposure Delayed Effects Adh5 alcohol use disorder , AMED syndrome , asthma , autism spectrum disorder , cholestasis , pulmonary hypertension Adh6 autism spectrum disorder Adh7 Esophageal Neoplasms , Laryngeal Neoplasms , Mouth Neoplasms , Parkinson's disease , Pharyngeal Neoplasms Adpgk Bardet-Biedl syndrome , Bloom syndrome , Brugada syndrome 8 , colorectal cancer , schizophrenia , Tay-Sachs disease Akr1a1 autism spectrum disorder , breast cancer , Carcinogenesis , Charcot-Marie-Tooth disease dominant intermediate C , Chemical and Drug Induced Liver Injury , developmental and epileptic encephalopathy , early infantile epileptic encephalopathy , hepatocellular carcinoma , Kidney Reperfusion Injury , lung adenocarcinoma , perinatal necrotizing enterocolitis Aldh1a1 autism spectrum disorder , Creutzfeldt-Jakob disease , Experimental Liver Cirrhosis , liver disease , melanoma , metabolic dysfunction-associated steatotic liver disease , Neoplastic Cell Transformation , oral squamous cell carcinoma , pancreatic cancer , Parkinsonism , renal cell carcinoma Aldh1a3 autism spectrum disorder , autistic disorder , chromosome 15q26-qter deletion syndrome , genetic disease , isolated microphthalmia 8 , melanoma , microphthalmia , Neurodevelopmental Disorders , Stomach Neoplasms , syndromic microphthalmia 9 Aldh1a7 Hemorrhagic Shock Aldh1b1 cholestasis , Colonic Neoplasms , Experimental Liver Cirrhosis , Hepatomegaly , metabolic dysfunction-associated steatotic liver disease Aldh2 Acute Alcohol Sensitivity , alcohol dependence , alcohol use disorder , alcohol-induced mental disorder , alcoholic liver cirrhosis , Alcoholic Liver Diseases , Alzheimer's disease , AMED syndrome , asthma , autism spectrum disorder , brain infarction , Chemical and Drug Induced Liver Injury , Colorectal Neoplasms , Diabetes Complications , diabetic neuropathy , esophageal cancer , Esophageal Neoplasms , esophagus squamous cell carcinoma , Experimental Liver Cirrhosis , Flushing , Genetic Predisposition to Disease , heart disease , Heart Injuries , hepatocellular carcinoma , heroin dependence , hypertension , Insulin Resistance , Kidney Reperfusion Injury , liver cancer , liver disease , Liver Reperfusion Injury , male infertility , Melanosis , metabolic dysfunction and alcohol associated liver disease , metabolic dysfunction-associated steatotic liver disease , myocardial infarction , Myocardial Ischemia , Myocardial Reperfusion Injury , occupational dermatitis , pancreatic cancer , Parkinson's disease , perinatal necrotizing enterocolitis , pre-malignant neoplasm , Sepsis , type 1 diabetes mellitus , type 2 diabetes mellitus , vascular disease , Ventricular Dysfunction Aldh3a1 arteriosclerosis , autism spectrum disorder , autistic disorder , cataract , Corneal Injuries , keratoconus , Meckel Syndrome 9 , Potocki-Lupski syndrome Aldh3a2 autism spectrum disorder , autistic disorder , common variable immunodeficiency 2 , genetic disease , Joubert syndrome 1 , Meckel Syndrome 9 , Potocki-Lupski syndrome , Sjogren-Larsson syndrome Aldh3b1 Aicardi-Goutieres Syndrome 3 , autism spectrum disorder , intellectual disability , Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Aldh7a1 adult onset demyelinating leukodystrophy , benign neonatal seizures , bone disease , coloboma , developmental and epileptic encephalopathy 1 , developmental and epileptic encephalopathy 13 , Disease Progression , early-onset vitamin B6-dependent epilepsy 4 , epilepsy , familial adenomatous polyposis 1 , genetic disease , hepatocellular carcinoma , Hereditary Neoplastic Syndromes , hydrocephalus , intellectual disability , Leukoencephalopathies , Nervous System Malformations , Neurodevelopmental Disorders , pyridoxine-dependent epilepsy , Stomach Neoplasms , Ventriculomegaly , visual epilepsy Aldh9a1 Chemical and Drug Induced Liver Injury , COVID-19 , gastrointestinal stromal tumor , parathyroid carcinoma , prostate cancer Aldoa autism spectrum disorder , autistic disorder , Breast Neoplasms , chromosome 16p11.2 deletion syndrome, 593-kb , chromosome 16p11.2 duplication syndrome , coronin-1A deficiency , cystadenoma , dilated cardiomyopathy , Endotoxemia , Episodic Kinesigenic Dyskinesia , episodic kinesigenic dyskinesia 1 , genetic disease , Glycogen Storage Disease XII , hereditary fructose intolerance syndrome , lung adenocarcinoma , Metabolic Syndrome , Myocardial Ischemia , Neoplasm Invasiveness , Neoplasm Metastasis , Neurodevelopmental Disorders , Reperfusion Injury , schizophrenia , spondylocostal dysostosis 5 Aldoart2 autism spectrum disorder , autistic disorder , chromosome 16p11.2 deletion syndrome, 593-kb , chromosome 16p11.2 duplication syndrome , coronin-1A deficiency , cystadenoma , genetic disease , Glycogen Storage Disease XII , schizophrenia , spondylocostal dysostosis 5 Aldob autoimmune hepatitis , Chemical and Drug Induced Liver Injury , diabetes mellitus , Experimental Diabetes Mellitus , fructose-1,6-bisphosphatase deficiency , genetic disease , hereditary fructose intolerance syndrome , Hypoxia , intellectual disability , liver benign neoplasm , Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency , peritonitis , Stomach Neoplasms , type 2 diabetes mellitus Aldoc autoimmune disease of the nervous system , borna disease , hepatocellular carcinoma , Stroke Bpgm familial erythrocytosis 8 , pleomorphic xanthoastrocytoma Dlat ataxia telangiectasia , BH4-deficient hyperphenylalaninemia A , Carney-Stratakis syndrome , Chemical and Drug Induced Liver Injury , chromosome 11 partial duplication syndrome , congenital disorder of glycosylation Il , dilated cardiomyopathy 1II , genetic disease , intellectual disability , Myocardial Ischemia , prostate cancer , Pyruvate Dehydrogenase E2 Deficiency , Sleep Deprivation Dld Congenital Infantile Lactic Acidosis due to LAD Deficiency , genetic disease , Leigh disease , lissencephaly 5 , maple syrup urine disease , pleomorphic xanthoastrocytoma , pyruvate decarboxylase deficiency , Subacute Necrotizing Encephalopathy of Leigh, Infantile Eno1 Acute Coronary Syndrome , adenocarcinoma , Alzheimer's disease , Animal Disease Models , Animal Mammary Neoplasms , Breast Neoplasms , carcinoma , Chemical and Drug Induced Liver Injury , chromosome 1p36 deletion syndrome , COVID-19 , Esophageal Neoplasms , Experimental Mammary Neoplasms , hepatocellular carcinoma , hypertension , lung adenocarcinoma , lung non-small cell carcinoma , male infertility , Mouth Neoplasms , Neoplasm Invasiveness , Neurodevelopmental Disorders , osteoarthritis , osteoporosis , perinatal necrotizing enterocolitis , rheumatoid arthritis , squamous cell carcinoma , Stomach Neoplasms Eno2 acute myeloid leukemia , Atrophy , brain disease , Brain Injuries , breast carcinoma , Carcinoid Tumor , developmental and epileptic encephalopathy 21 , Endometrioid Carcinomas , Experimental Diabetes Mellitus , Experimental Liver Neoplasms , Experimental Neoplasms , Experimental Seizures , hereditary breast ovarian cancer syndrome , Hyperphosphatemic Familial Tumoral Calcinosis 1 , hypertension , Kidney Neoplasms , Klippel-Feil syndrome 3 , Lewy body dementia , lung non-small cell carcinoma , lymphoproliferative syndrome 2 , migraine without aura , Multiple Trauma , Neoplastic Cell Transformation , Nerve Tissue Neoplasms , neuroendocrine carcinoma , Parkinson's disease , Parkinsonism , peroxisome biogenesis disorder 2B , prostate cancer , Reperfusion Injury , Spinal Cord Injuries , Temtamy syndrome , toxic shock syndrome , urinary bladder cancer , Urologic Neoplasms Eno3 aortic valve stenosis , congenital myasthenic syndrome 4A , genetic disease , Glycogen Storage Disease XIII , liver disease , spastic ataxia 2 Fbp1 Acute Liver Failure , Baker-Winegrad Disease , Colonic Neoplasms , fructose-1,6-bisphosphatase deficiency , genetic disease , hepatocellular carcinoma , hiatus hernia , Parkinson's disease , schizophrenia , Stomach Neoplasms Fbp2 Acute Liver Failure , Childhood-Onset Remitting Leukodystrophy , fructose-1,6-bisphosphatase deficiency , hiatus hernia , Neurodevelopmental Disorders G6pc1 Chemical and Drug Induced Liver Injury , Dwarfism , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Fetal Growth Retardation , genetic disease , gestational diabetes , glycogen storage disease , glycogen storage disease I , glycogen storage disease Ia , hepatocellular carcinoma , hypoglycemia , Liver Failure , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , steatotic liver disease , type 2 diabetes mellitus G6pc3 COVID-19 , Dursun Syndrome , genetic disease , GRN-related frontotemporal lobar degeneration with TDP43 inclusions , hereditary breast ovarian cancer syndrome , primary immunodeficiency disease , severe congenital neutropenia , severe congenital neutropenia 4 Galm buphthalmos , galactosemia 4 , genetic disease , Lynch syndrome , RASopathy Gapdh Acute Coronary Syndrome , Alzheimer's disease , Animal Disease Models , brain glioma , Colorectal Neoplasms , COVID-19 , diabetic retinopathy , epilepsy , Esophageal Neoplasms , Experimental Diabetes Mellitus , hepatocellular carcinoma , Huntington's disease , Hyperphosphatemic Familial Tumoral Calcinosis 1 , Hypoxia , lung adenocarcinoma , lymphangioleiomyomatosis , lymphoproliferative syndrome 2 , middle cerebral artery infarction , Mouth Neoplasms , Myocardial Reperfusion Injury , Necrosis , obesity , oral squamous cell carcinoma , osteoarthritis , osteoporosis , Parkinsonism , peroxisome biogenesis disorder 2B , Pregnancy in Diabetics , primary autosomal recessive microcephaly 21 , rheumatic heart disease , Spinal Cord Injuries , Spinal Cord Reperfusion Injury , squamous cell carcinoma , Temtamy syndrome , type 2 diabetes mellitus , Viral Bronchiolitis Gapdhs Alzheimer's disease , Brugada syndrome 5 , dystonia , hereditary spastic paraplegia 75 , prostate cancer Gck Bone Marrow Failure Syndrome 2 , Congenital Hyperinsulinism , coronary artery disease , diabetes mellitus , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , familial hyperinsulinemic hypoglycemia 3 , genetic disease , gestational diabetes , hyperglycemia , hyperinsulinemic hypoglycemia , hyperinsulinism , hypertension , hypoglycemia , Insulin Resistance , Liver Injury , maturity-onset diabetes of the young , maturity-onset diabetes of the young type 1 , maturity-onset diabetes of the young type 2 , maturity-onset diabetes of the young type 3 , Metabolic Syndrome , neonatal diabetes , Nijmegen breakage syndrome , obesity , permanent neonatal diabetes mellitus , Permanent Neonatal Diabetes Mellitus 1 , pleomorphic xanthoastrocytoma , steatotic liver disease , transient neonatal diabetes mellitus , type 2 diabetes mellitus Got1 Acute Lung Injury , amyloidosis , amyotrophic lateral sclerosis , cardiomyopathy , Chemical and Drug Induced Liver Injury , Closed Head Injuries , Experimental Liver Cirrhosis , Febrile Seizures , Hyperoxia , pancreatic ductal adenocarcinoma , Pulmonary Hypertension, Hypoxia-Induced , transient cerebral ischemia Got2 acute kidney failure , Bardet-Biedl syndrome , Chromosome 16q12 Duplication Syndrome , developmental and epileptic encephalopathy , developmental and epileptic encephalopathy 82 , early infantile epileptic encephalopathy , Febrile Seizures , neurodegenerative disease , obesity , Pulmonary Hypertension, Hypoxia-Induced , schizophrenia , Spinal Cord Injuries , Transplant Rejection Gpi acute lymphoblastic leukemia , acute myeloid leukemia , Animal Disease Models , Breast Neoplasms , congenital hemolytic anemia , congenital nonspherocytic hemolytic anemia , congenital nonspherocytic hemolytic anemia 4 , Experimental Arthritis , genetic disease , hemolytic anemia , hereditary spastic paraplegia 75 , hereditary spherocytosis , intellectual disability , lung adenocarcinoma , Mental Retardation, Autosomal Recessive 42 , Neoplasm Metastasis , neuromuscular disease Hk1 acute lymphoblastic leukemia , anemia , Animal Disease Models , autism spectrum disorder , Charcot-Marie-Tooth disease type 4G , Chronic Intermittent Hypoxia , colorectal cancer , congenital nonspherocytic hemolytic anemia , congenital nonspherocytic hemolytic anemia 5 , COVID-19 , Experimental Diabetes Mellitus , fundus dystrophy , genetic disease , Hexokinase Deficiency Hemolytic Anemia , Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation , lung adenocarcinoma , macular degeneration , multiple myeloma , Myocardial Ischemia , NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES , Neurodevelopmental Disorders , obesity , pulmonary hypertension , retinitis pigmentosa , Retinitis Pigmentosa 79 , sickle cell anemia , type 2 diabetes mellitus , urinary bladder cancer Hk2 Animal Disease Models , Chronic Intermittent Hypoxia , hypertension , lung adenocarcinoma , Myocardial Ischemia , obesity , type 2 diabetes mellitus Hk3 Chromosome 5, Trisomy 5q , Ehlers-Danlos syndrome dermatosparaxis type , Ehlers-Danlos syndrome spondylodysplastic type 2 , liver disease , long QT syndrome , Marfanoid Mental Retardation Syndrome, Autosomal , Sotos syndrome Ldha Acute Liver Failure , Animal Disease Models , cardiomyopathy , COVID-19 , Experimental Neoplasms , Fanconi syndrome , Fanconi-Bickel syndrome , genetic disease , Glycogen Storage Disease XI , hyperglycemia , hypertension , hypertrophic cardiomyopathy 12 , intellectual disability , lung adenocarcinoma , myocardial infarction , myoglobinuria , pancreatic cancer , progressive myoclonus epilepsy 7 Ldhal6b Bloom syndrome , Breast Neoplasms , colorectal cancer , focal segmental glomerulosclerosis 6 Ldhb Acute Coronary Syndrome , Breast Neoplasms , dilated cardiomyopathy 1O , ductal carcinoma in situ , Experimental Liver Cirrhosis , inherited metabolic disorder , Lactate Dehydrogenase B Deficiency , Neoplasm Invasiveness , Prostatic Neoplasms , renal cell carcinoma Ldhc hypertrophic cardiomyopathy 12 , intellectual disability , lung disease , male infertility , progressive myoclonus epilepsy 7 Mdh2 Animal Mammary Neoplasms , brain disease , brain ischemia , carcinoma , Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB , congestive heart failure , developmental and epileptic encephalopathy 1 , developmental and epileptic encephalopathy 51 , Experimental Mammary Neoplasms , genetic disease , myocardial infarction , ovarian carcinoma , pleomorphic xanthoastrocytoma Mpc1 Fraser syndrome 3 , mitochondrial pyruvate carrier deficiency , substance-related disorder Pank1 Nerve Degeneration Pc Aicardi-Goutieres Syndrome 3 , bipolar disorder , Burkitt lymphoma , Chemical and Drug Induced Liver Injury , Congenital Infantile Lactic Acidosis , Developmental Disabilities , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , genetic disease , intellectual disability , Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency , pyruvate carboxylase deficiency disease , Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations , type 2 diabetes mellitus Pck1 Alzheimer's disease , celiac disease , Chronic Intermittent Hypoxia , congestive heart failure , Endotoxemia , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Fetal Growth Retardation , genetic disease , hepatocellular carcinoma , hyperglycemia , metabolic dysfunction-associated steatohepatitis , Metabolic Syndrome , obesity , Phosphoenolpyruvate Carboxykinase Deficiency , Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic , type 2 diabetes mellitus Pck2 Brain-Lung-Thyroid Syndrome , COVID-19 , Endotoxemia , Experimental Liver Cirrhosis , Hypoxia , lysinuric protein intolerance , Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial , retinitis pigmentosa 27 , Specific Granule Deficiency Pdha1 autistic disorder , Coffin-Lowry syndrome , developmental and epileptic encephalopathy 2 , Disease Progression , epilepsy , genetic disease , glycogen storage disease IXA , lactic acidosis , Leigh Syndrome, X-Linked , mitochondrial metabolism disease , Myocardial Ischemia , Nance-Horan syndrome , Neurodevelopmental Disorders , osteoarthritis , Prostatic Neoplasms , pyruvate decarboxylase deficiency , Pyruvate Dehydrogenase E1 Alpha Deficiency , Pyruvate Metabolism, Inborn Errors , Stomach Neoplasms , sudden infant death syndrome , syndromic X-linked intellectual disability Lubs type Pdha2 azoospermia , spermatogenic failure 1 , spermatogenic failure 70 Pdhb epilepsy , genetic disease , pyruvate decarboxylase deficiency , Pyruvate Dehydrogenase E1-Beta Deficiency , Pyruvate Dehydrogenase Phosphatase Deficiency , renal cell carcinoma Pfkfb1 autistic disorder , autosomal hemophilia A , Cornelia de Lange syndrome 2 , factor VIII deficiency , hyperinsulinism , syndromic X-linked intellectual disability Lubs type Pfkl autistic disorder , autoimmune polyendocrine syndrome type 1 , cataract 9 multiple types , developmental and epileptic encephalopathy 30 , homocystinuria , Neurodevelopmental Disorders , primary ciliary dyskinesia , progressive myoclonus epilepsy Pfkm Experimental Diabetes Mellitus , genetic disease , glycogen storage disease , glycogen storage disease IV , glycogen storage disease VII , Myocardial Ischemia , peroxisome biogenesis disorder 3B , Rhabdomyolysis Pfkp Experimental Liver Cirrhosis , schizophrenia , syndromic microphthalmia 5 Pgam1 adenocarcinoma , Animal Mammary Neoplasms , carcinoma , Experimental Mammary Neoplasms , lung non-small cell carcinoma , Mouth Neoplasms , squamous cell carcinoma , Stomach Neoplasms Pgam2 Dimauro Disease , genetic disease , myoglobinuria , pleomorphic xanthoastrocytoma , Prostatic Neoplasms , Rhabdomyolysis Pgk1 alpha thalassemia-X-linked intellectual disability syndrome , autistic disorder , autosomal hemophilia A , factor VIII deficiency , Generalized Epilepsy , genetic disease , hemolytic anemia , hepatocellular carcinoma , Menkes disease , optic atrophy , phosphoglycerate kinase 1 deficiency , renal cell carcinoma , syndromic X-linked intellectual disability Lubs type , X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia , Young Syndrome Pgm1 Chemical and Drug Induced Liver Injury , Colorectal Neoplasms , congenital disorder of glycosylation , congenital disorder of glycosylation It , Craniosynostosis Syndrome, Autosomal Recessive , endometrial cancer , genetic disease , intellectual disability , Myocardial Ischemia , teratoma Pklr Burns , Charcot-Marie-Tooth disease type 2 , congenital nonspherocytic hemolytic anemia , congenital nonspherocytic hemolytic anemia 2 , Elevated Adenosine Triphosphate of Erythrocytes , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , gastrointestinal stromal tumor , Gaucher's disease , genetic disease , hemolytic anemia , hyperglycemia , hyperinsulinism , Hypertriglyceridemia , immunodeficiency 42 , Insulin Resistance , malaria , metabolic dysfunction-associated steatotic liver disease , MHC class II deficiency , obesity , parathyroid carcinoma , Reperfusion Injury , severe congenital neutropenia 3 , severe congenital neutropenia 5 , type 2 diabetes mellitus Slc25a11 adult respiratory distress syndrome , congenital myasthenic syndrome 4A , Paragangliomas 6 , spastic ataxia 2 Slc2a2 Breast Neoplasms , diabetes mellitus , Experimental Diabetes Mellitus , Fanconi syndrome , Fanconi-Bickel syndrome , Fetal Growth Retardation , gastrinoma , genetic disease , Glucagonoma , glycogen storage disease , hepatocellular carcinoma , insulinoma , long QT syndrome , maturity-onset diabetes of the young type 1 , neural tube defect , pancreatic ductal carcinoma , steatotic liver disease , type 2 diabetes mellitus Slc37a4 CD3epsilon deficiency , chromosome 11 partial duplication syndrome , congenital disorder of glycosylation , Congenital Disorder of Glycosylation Type IIw , Dwarfism , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Familial Atrial Fibrillation 14 , genetic disease , Glucose-6-Phosphate Translocase Deficiency , glycogen storage disease , glycogen storage disease I , glycogen storage disease Ia , glycogen storage disease Ib , glycogen storage disease Ic , Hepatomegaly , immunodeficiency 17 , immunodeficiency 18 , immunodeficiency 19 , inflammatory bowel disease 28 , isolated microphthalmia 5 , long QT syndrome 10 , RASopathy , schizophrenia Tpi1 Alzheimer's disease , Animal Disease Models , carbohydrate metabolic disorder , congenital nonspherocytic hemolytic anemia , COVID-19 , developmental and epileptic encephalopathy 21 , esophagus squamous cell carcinoma , Experimental Diabetes Mellitus , genetic disease , hemolytic anemia , Hyperphosphatemic Familial Tumoral Calcinosis 1 , inherited metabolic disorder , Klippel-Feil syndrome 3 , lung adenocarcinoma , lymphoproliferative syndrome 2 , Mouth Neoplasms , neuromuscular disease , Neuromuscular Manifestations , ocular hypertension , osteoporosis , peroxisome biogenesis disorder 2B , squamous cell carcinoma , Temtamy syndrome , triosephosphate isomerase deficiency
Acute Alcohol Sensitivity Aldh2 Acute Coronary Syndrome Eno1 , Gapdh , Ldhb acute kidney failure Got2 Acute Liver Failure Fbp1 , Fbp2 , Ldha Acute Lung Injury Got1 acute lymphoblastic leukemia Gpi , Hk1 acute myeloid leukemia Eno2 , Gpi adenocarcinoma Eno1 , Pgam1 adult onset demyelinating leukodystrophy Aldh7a1 adult respiratory distress syndrome Slc25a11 Aicardi-Goutieres Syndrome 3 Aldh3b1 , Pc alcohol dependence Adh4 , Aldh2 alcohol use disorder Adh5 , Aldh2 alcohol-induced mental disorder Aldh2 alcoholic liver cirrhosis Aldh2 Alcoholic Liver Diseases Aldh2 alpha thalassemia-X-linked intellectual disability syndrome Pgk1 Alzheimer's disease Aldh2 , Eno1 , Gapdh , Gapdhs , Pck1 , Tpi1 AMED syndrome Adh5 , Aldh2 amyloidosis Got1 amyotrophic lateral sclerosis Got1 anemia Hk1 Animal Disease Models Eno1 , Gapdh , Gpi , Hk1 , Hk2 , Ldha , Tpi1 Animal Mammary Neoplasms Eno1 , Mdh2 , Pgam1 aortic valve stenosis Eno3 arteriosclerosis Aldh3a1 asthma Adh5 , Aldh2 ataxia telangiectasia Dlat Atrophy Eno2 autism spectrum disorder Adh4 , Adh5 , Adh6 , Akr1a1 , Aldh1a1 , Aldh1a3 , Aldh2 , Aldh3a1 , Aldh3a2 , Aldh3b1 , Aldoa , Aldoart2 , Hk1 autistic disorder Aldh1a3 , Aldh3a1 , Aldh3a2 , Aldoa , Aldoart2 , Pdha1 , Pfkfb1 , Pfkl , Pgk1 autoimmune disease of the nervous system Aldoc autoimmune hepatitis Aldob autoimmune polyendocrine syndrome type 1 Pfkl autosomal hemophilia A Pfkfb1 , Pgk1 azoospermia Pdha2 Baker-Winegrad Disease Fbp1 Bardet-Biedl syndrome Adpgk , Got2 benign neonatal seizures Aldh7a1 BH4-deficient hyperphenylalaninemia A Dlat Binge Drinking Adh4 bipolar disorder Pc Bloom syndrome Adpgk , Ldhal6b bone disease Aldh7a1 Bone Marrow Failure Syndrome 2 Gck borna disease Aldoc brain disease Eno2 , Mdh2 brain glioma Gapdh brain infarction Aldh2 Brain Injuries Eno2 brain ischemia Mdh2 Brain-Lung-Thyroid Syndrome Pck2 breast cancer Akr1a1 breast carcinoma Eno2 Breast Neoplasms Aldoa , Eno1 , Gpi , Ldhal6b , Ldhb , Slc2a2 Brugada syndrome 5 Gapdhs Brugada syndrome 8 Adpgk buphthalmos Galm Burkitt lymphoma Pc Burns Pklr carbohydrate metabolic disorder Tpi1 Carcinogenesis Akr1a1 Carcinoid Tumor Eno2 carcinoma Eno1 , Mdh2 , Pgam1 cardiomyopathy Got1 , Ldha Carney-Stratakis syndrome Dlat cataract Aldh3a1 cataract 9 multiple types Pfkl CD3epsilon deficiency Slc37a4 celiac disease Pck1 Charcot-Marie-Tooth disease dominant intermediate C Akr1a1 Charcot-Marie-Tooth disease type 2 Pklr Charcot-Marie-Tooth disease type 4G Hk1 Chemical and Drug Induced Liver Injury Akr1a1 , Aldh2 , Aldh9a1 , Aldob , Dlat , Eno1 , G6pc1 , Got1 , Pc , Pgm1 Childhood-Onset Remitting Leukodystrophy Fbp2 cholestasis Adh5 , Aldh1b1 chromosome 11 partial duplication syndrome Dlat , Slc37a4 chromosome 15q26-qter deletion syndrome Aldh1a3 chromosome 16p11.2 deletion syndrome, 593-kb Aldoa , Aldoart2 chromosome 16p11.2 duplication syndrome Aldoa , Aldoart2 Chromosome 16q12 Duplication Syndrome Got2 chromosome 1p36 deletion syndrome Eno1 Chromosome 5, Trisomy 5q Hk3 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB Mdh2 Chronic Intermittent Hypoxia Hk1 , Hk2 , Pck1 Closed Head Injuries Got1 Cluster Headache Adh4 Coffin-Lowry syndrome Pdha1 coloboma Aldh7a1 Colonic Neoplasms Aldh1b1 , Fbp1 colorectal cancer Adpgk , Hk1 , Ldhal6b Colorectal Neoplasms Aldh2 , Gapdh , Pgm1 common variable immunodeficiency 2 Aldh3a2 congenital disorder of glycosylation Pgm1 , Slc37a4 congenital disorder of glycosylation Il Dlat congenital disorder of glycosylation It Pgm1 Congenital Disorder of Glycosylation Type IIw Slc37a4 congenital hemolytic anemia Gpi Congenital Hyperinsulinism Gck Congenital Infantile Lactic Acidosis Pc Congenital Infantile Lactic Acidosis due to LAD Deficiency Dld congenital myasthenic syndrome 4A Eno3 , Slc25a11 congenital nonspherocytic hemolytic anemia Gpi , Hk1 , Pklr , Tpi1 congenital nonspherocytic hemolytic anemia 2 Pklr congenital nonspherocytic hemolytic anemia 4 Gpi congenital nonspherocytic hemolytic anemia 5 Hk1 congestive heart failure Mdh2 , Pck1 Corneal Injuries Aldh3a1 Cornelia de Lange syndrome 2 Pfkfb1 coronary artery disease Gck coronin-1A deficiency Aldoa , Aldoart2 COVID-19 Aldh9a1 , Eno1 , G6pc3 , Gapdh , Hk1 , Ldha , Pck2 , Tpi1 Craniosynostosis Syndrome, Autosomal Recessive Pgm1 Creutzfeldt-Jakob disease Aldh1a1 cystadenoma Aldoa , Aldoart2 developmental and epileptic encephalopathy Akr1a1 , Got2 developmental and epileptic encephalopathy 1 Aldh7a1 , Mdh2 developmental and epileptic encephalopathy 13 Aldh7a1 developmental and epileptic encephalopathy 2 Pdha1 developmental and epileptic encephalopathy 21 Eno2 , Tpi1 developmental and epileptic encephalopathy 30 Pfkl developmental and epileptic encephalopathy 51 Mdh2 developmental and epileptic encephalopathy 82 Got2 Developmental Disabilities Pc Diabetes Complications Aldh2 diabetes mellitus Aldob , Gck , Slc2a2 diabetic neuropathy Aldh2 diabetic retinopathy Gapdh dilated cardiomyopathy Aldoa dilated cardiomyopathy 1II Dlat dilated cardiomyopathy 1O Ldhb Dimauro Disease Pgam2 Disease Progression Aldh7a1 , Pdha1 ductal carcinoma in situ Ldhb Dursun Syndrome G6pc3 Dwarfism G6pc1 , Slc37a4 dystonia Gapdhs early infantile epileptic encephalopathy Akr1a1 , Got2 early-onset vitamin B6-dependent epilepsy 4 Aldh7a1 Ehlers-Danlos syndrome dermatosparaxis type Hk3 Ehlers-Danlos syndrome spondylodysplastic type 2 Hk3 Elevated Adenosine Triphosphate of Erythrocytes Pklr endometrial cancer Pgm1 Endometrioid Carcinomas Eno2 Endotoxemia Aldoa , Pck1 , Pck2 epilepsy Aldh7a1 , Gapdh , Pdha1 , Pdhb Episodic Kinesigenic Dyskinesia Aldoa episodic kinesigenic dyskinesia 1 Aldoa esophageal cancer Aldh2 Esophageal Neoplasms Adh7 , Aldh2 , Eno1 , Gapdh esophagus squamous cell carcinoma Aldh2 , Tpi1 Experimental Arthritis Gpi Experimental Diabetes Mellitus Aldob , Eno2 , G6pc1 , Gapdh , Gck , Hk1 , Pc , Pck1 , Pfkm , Pklr , Slc2a2 , Slc37a4 , Tpi1 Experimental Liver Cirrhosis Adh4 , Aldh1a1 , Aldh1b1 , Aldh2 , G6pc1 , Gck , Got1 , Ldhb , Pc , Pck1 , Pck2 , Pfkp , Pklr , Slc37a4 Experimental Liver Neoplasms Eno2 Experimental Mammary Neoplasms Eno1 , Mdh2 , Pgam1 Experimental Melanoma Acss1 , Acss2 Experimental Neoplasms Eno2 , Ldha Experimental Seizures Eno2 factor VIII deficiency Pfkfb1 , Pgk1 familial adenomatous polyposis 1 Aldh7a1 Familial Atrial Fibrillation 14 Slc37a4 familial erythrocytosis 8 Bpgm familial hyperinsulinemic hypoglycemia 3 Gck Fanconi syndrome Ldha , Slc2a2 Fanconi-Bickel syndrome Ldha , Slc2a2 Febrile Seizures Got1 , Got2 Fetal Growth Retardation G6pc1 , Pck1 , Slc2a2 Flushing Aldh2 focal segmental glomerulosclerosis 6 Ldhal6b Fraser syndrome 3 Mpc1 fructose-1,6-bisphosphatase deficiency Aldob , Fbp1 , Fbp2 fundus dystrophy Hk1 galactosemia 4 Galm gastrinoma Slc2a2 gastrointestinal stromal tumor Aldh9a1 , Pklr Gaucher's disease Pklr Generalized Epilepsy Pgk1 genetic disease Aldh1a3 , Aldh3a2 , Aldh7a1 , Aldoa , Aldoart2 , Aldob , Dlat , Dld , Eno3 , Fbp1 , G6pc1 , G6pc3 , Galm , Gck , Gpi , Hk1 , Ldha , Mdh2 , Pc , Pck1 , Pdha1 , Pdhb , Pfkm , Pgam2 , Pgk1 , Pgm1 , Pklr , Slc2a2 , Slc37a4 , Tpi1 Genetic Predisposition to Disease Aldh2 gestational diabetes G6pc1 , Gck Glucagonoma Slc2a2 Glucose-6-Phosphate Translocase Deficiency Slc37a4 glutathione synthetase deficiency Acss2 glutatione synthetase deficiency with 5-oxoprolinuria Acss2 glycogen storage disease G6pc1 , Pfkm , Slc2a2 , Slc37a4 glycogen storage disease I G6pc1 , Slc37a4 glycogen storage disease Ia G6pc1 , Slc37a4 glycogen storage disease Ib Slc37a4 glycogen storage disease Ic Slc37a4 glycogen storage disease IV Pfkm glycogen storage disease IXA Pdha1 glycogen storage disease VII Pfkm Glycogen Storage Disease XI Ldha Glycogen Storage Disease XII Aldoa , Aldoart2 Glycogen Storage Disease XIII Eno3 GRN-related frontotemporal lobar degeneration with TDP43 inclusions G6pc3 heart disease Aldh2 Heart Injuries Aldh2 hemolytic anemia Gpi , Pgk1 , Pklr , Tpi1 Hemorrhagic Shock Aldh1a7 hepatocellular carcinoma Adh4 , Akr1a1 , Aldh2 , Aldh7a1 , Aldoc , Eno1 , Fbp1 , G6pc1 , Gapdh , Pck1 , Pgk1 , Slc2a2 Hepatomegaly Aldh1b1 , Slc37a4 hereditary breast ovarian cancer syndrome Eno2 , G6pc3 hereditary fructose intolerance syndrome Aldoa , Aldob Hereditary Neoplastic Syndromes Aldh7a1 hereditary spastic paraplegia 75 Gapdhs , Gpi hereditary spherocytosis Gpi heroin dependence Aldh2 Hexokinase Deficiency Hemolytic Anemia Hk1 hiatus hernia Fbp1 , Fbp2 homocystinuria Pfkl Huntington's disease Gapdh hydrocephalus Aldh7a1 hyperglycemia Gck , Ldha , Pck1 , Pklr hyperinsulinemic hypoglycemia Gck hyperinsulinism Gck , Pfkfb1 , Pklr Hyperoxia Got1 Hyperphosphatemic Familial Tumoral Calcinosis 1 Eno2 , Gapdh , Tpi1 hypertension Aldh2 , Eno1 , Eno2 , Gck , Hk2 , Ldha Hypertriglyceridemia Pklr hypertrophic cardiomyopathy 12 Ldha , Ldhc hypoglycemia G6pc1 , Gck Hypothermia Acss1 Hypoxia Aldob , Gapdh , Pck2 immunodeficiency 17 Slc37a4 immunodeficiency 18 Slc37a4 immunodeficiency 19 Slc37a4 immunodeficiency 42 Pklr Inflammation Acss2 inflammatory bowel disease 28 Slc37a4 inherited metabolic disorder Ldhb , Tpi1 Insulin Resistance Aldh2 , Gck , Pklr insulinoma Slc2a2 intellectual disability Aldh3b1 , Aldh7a1 , Aldob , Dlat , Gpi , Ldha , Ldhc , Pc , Pgm1 isolated microphthalmia 5 Slc37a4 isolated microphthalmia 8 Aldh1a3 Joubert syndrome 1 Aldh3a2 keratoconus Aldh3a1 Kidney Neoplasms Eno2 Kidney Reperfusion Injury Akr1a1 , Aldh2 Klippel-Feil syndrome 3 Eno2 , Tpi1 Lactate Dehydrogenase B Deficiency Ldhb lactic acidosis Pdha1 Laryngeal Neoplasms Adh7 Leigh disease Dld Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency Pc Leigh Syndrome, X-Linked Pdha1 Leukoencephalopathies Aldh7a1 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Hk1 Lewy body dementia Eno2 lissencephaly 5 Dld liver benign neoplasm Aldob liver cancer Aldh2 liver disease Aldh1a1 , Aldh2 , Eno3 , Hk3 Liver Failure G6pc1 Liver Injury Gck Liver Reperfusion Injury Aldh2 long QT syndrome Acss2 , Hk3 , Slc2a2 long QT syndrome 10 Slc37a4 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Aldob lung adenocarcinoma Akr1a1 , Aldoa , Eno1 , Gapdh , Gpi , Hk1 , Hk2 , Ldha , Tpi1 lung disease Ldhc lung non-small cell carcinoma Eno1 , Eno2 , Pgam1 lymphangioleiomyomatosis Acss2 , Gapdh lymphoproliferative syndrome 2 Eno2 , Gapdh , Tpi1 Lynch syndrome Galm lysinuric protein intolerance Pck2 macular degeneration Hk1 malaria Pklr male infertility Aldh2 , Eno1 , Ldhc maple syrup urine disease Dld Marfanoid Mental Retardation Syndrome, Autosomal Hk3 maturity-onset diabetes of the young Gck maturity-onset diabetes of the young type 1 Gck , Slc2a2 maturity-onset diabetes of the young type 2 Gck maturity-onset diabetes of the young type 3 Gck Meckel Syndrome 9 Aldh3a1 , Aldh3a2 melanoma Aldh1a1 , Aldh1a3 Melanosis Aldh2 Menkes disease Pgk1 Mental Retardation, Autosomal Recessive 42 Gpi metabolic dysfunction and alcohol associated liver disease Aldh2 metabolic dysfunction-associated steatohepatitis Pck1 metabolic dysfunction-associated steatotic liver disease Adh4 , Aldh1a1 , Aldh1b1 , Aldh2 , G6pc1 , Pklr Metabolic Syndrome Aldoa , G6pc1 , Gck , Pck1 MHC class II deficiency Pklr microphthalmia Aldh1a3 middle cerebral artery infarction Gapdh migraine without aura Eno2 mitochondrial metabolism disease Pdha1 mitochondrial pyruvate carrier deficiency Mpc1 morbid obesity Acss2 Mouth Neoplasms Adh7 , Eno1 , Gapdh , Pgam1 , Tpi1 multiple myeloma Hk1 Multiple Trauma Eno2 myocardial infarction Aldh2 , Ldha , Mdh2 Myocardial Ischemia Aldh2 , Aldoa , Dlat , Hk1 , Hk2 , Pdha1 , Pfkm , Pgm1 Myocardial Reperfusion Injury Aldh2 , Gapdh myoglobinuria Ldha , Pgam2 Nance-Horan syndrome Pdha1 Necrosis Gapdh neonatal diabetes Gck Neoplasm Invasiveness Aldoa , Eno1 , Ldhb Neoplasm Metastasis Aldoa , Gpi Neoplastic Cell Transformation Aldh1a1 , Eno2 Nerve Degeneration Pank1 Nerve Tissue Neoplasms Eno2 Nervous System Malformations Aldh7a1 neural tube defect Slc2a2 neurodegenerative disease Got2 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES Hk1 Neurodevelopmental Disorders Aldh1a3 , Aldh7a1 , Aldoa , Eno1 , Fbp2 , Hk1 , Pdha1 , Pfkl neuroendocrine carcinoma Eno2 neuromuscular disease Gpi , Tpi1 Neuromuscular Manifestations Tpi1 Nijmegen breakage syndrome Gck obesity Gapdh , Gck , Got2 , Hk1 , Hk2 , Pck1 , Pklr occupational dermatitis Aldh2 ocular hypertension Tpi1 optic atrophy Pgk1 oral squamous cell carcinoma Aldh1a1 , Gapdh orofacial cleft Acss2 osteoarthritis Eno1 , Gapdh , Pdha1 osteoporosis Eno1 , Gapdh , Tpi1 ovarian carcinoma Mdh2 pancreatic cancer Aldh1a1 , Aldh2 , Ldha pancreatic ductal adenocarcinoma Got1 pancreatic ductal carcinoma Slc2a2 Paragangliomas 6 Slc25a11 parathyroid carcinoma Aldh9a1 , Pklr Parkinson's disease Adh7 , Aldh2 , Eno2 , Fbp1 Parkinsonism Aldh1a1 , Eno2 , Gapdh perinatal necrotizing enterocolitis Akr1a1 , Aldh2 , Eno1 peritonitis Aldob permanent neonatal diabetes mellitus Gck Permanent Neonatal Diabetes Mellitus 1 Gck peroxisome biogenesis disorder 2B Eno2 , Gapdh , Tpi1 peroxisome biogenesis disorder 3B Pfkm Pharyngeal Neoplasms Adh7 Phosphoenolpyruvate Carboxykinase Deficiency Pck1 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic Pck1 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Pck2 phosphoglycerate kinase 1 deficiency Pgk1 pleomorphic xanthoastrocytoma Bpgm , Dld , Gck , Mdh2 , Pgam2 Potocki-Lupski syndrome Aldh3a1 , Aldh3a2 pre-malignant neoplasm Aldh2 Pregnancy in Diabetics Gapdh Prenatal Exposure Delayed Effects Adh4 primary autosomal recessive microcephaly 21 Gapdh primary ciliary dyskinesia Pfkl primary immunodeficiency disease G6pc3 progressive myoclonus epilepsy Pfkl progressive myoclonus epilepsy 7 Ldha , Ldhc prostate cancer Aldh9a1 , Dlat , Eno2 , Gapdhs Prostatic Neoplasms Ldhb , Pdha1 , Pgam2 pulmonary hypertension Adh5 , Hk1 Pulmonary Hypertension, Hypoxia-Induced Got1 , Got2 pyridoxine-dependent epilepsy Aldh7a1 pyruvate carboxylase deficiency disease Pc pyruvate decarboxylase deficiency Dld , Pdha1 , Pdhb Pyruvate Dehydrogenase E1 Alpha Deficiency Pdha1 Pyruvate Dehydrogenase E1-Beta Deficiency Pdhb Pyruvate Dehydrogenase E2 Deficiency Dlat Pyruvate Dehydrogenase Phosphatase Deficiency Pdhb Pyruvate Metabolism, Inborn Errors Pdha1 RASopathy Galm , Slc37a4 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Aldh3b1 , Pc renal cell carcinoma Aldh1a1 , Ldhb , Pdhb , Pgk1 Reperfusion Injury Aldoa , Eno2 , Pklr retinitis pigmentosa Hk1 retinitis pigmentosa 27 Pck2 Retinitis Pigmentosa 79 Hk1 Rhabdomyolysis Pfkm , Pgam2 rheumatic heart disease Gapdh rheumatoid arthritis Eno1 schizophrenia Adpgk , Aldoa , Aldoart2 , Fbp1 , Got2 , Pfkp , Slc37a4 Sepsis Aldh2 severe congenital neutropenia G6pc3 severe congenital neutropenia 3 Pklr severe congenital neutropenia 4 G6pc3 severe congenital neutropenia 5 Pklr sickle cell anemia Hk1 Sjogren-Larsson syndrome Aldh3a2 Sleep Deprivation Dlat Sotos syndrome Hk3 spastic ataxia 2 Eno3 , Slc25a11 Specific Granule Deficiency Pck2 spermatogenic failure 1 Pdha2 spermatogenic failure 70 Pdha2 Spinal Cord Injuries Eno2 , Gapdh , Got2 Spinal Cord Reperfusion Injury Gapdh spondylocostal dysostosis 5 Aldoa , Aldoart2 squamous cell carcinoma Eno1 , Gapdh , Pgam1 , Tpi1 steatotic liver disease G6pc1 , Gck , Slc2a2 Stomach Neoplasms Aldh1a3 , Aldh7a1 , Aldob , Eno1 , Fbp1 , Pdha1 , Pgam1 Stroke Aldoc Subacute Necrotizing Encephalopathy of Leigh, Infantile Dld substance-related disorder Mpc1 sudden infant death syndrome Pdha1 syndromic microphthalmia 5 Pfkp syndromic microphthalmia 9 Aldh1a3 syndromic X-linked intellectual disability Lubs type Pdha1 , Pfkfb1 , Pgk1 Tay-Sachs disease Adpgk Temtamy syndrome Eno2 , Gapdh , Tpi1 teratoma Pgm1 toxic shock syndrome Eno2 transient cerebral ischemia Got1 transient neonatal diabetes mellitus Gck Transplant Rejection Got2 triosephosphate isomerase deficiency Tpi1 type 1 diabetes mellitus Aldh2 type 2 diabetes mellitus Aldh2 , Aldob , G6pc1 , Gapdh , Gck , Hk1 , Hk2 , Pc , Pck1 , Pklr , Slc2a2 urinary bladder cancer Eno2 , Hk1 Urologic Neoplasms Eno2 vascular disease Aldh2 Ventricular Dysfunction Aldh2 Ventriculomegaly Aldh7a1 Viral Bronchiolitis Gapdh visual epilepsy Aldh7a1 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Pgk1 Young Syndrome Pgk1