MONDO:0004946 |
MONDO:0004946
Disease Name: hypoglycemia
All associated enzymes in DAR:
G6PC1
. The disease is also associated to other non-enzyme proteins (not in DAR).
G6PC1 |
P35575 |
3.1.3.9
|
R-HSA-70263
R-HSA-9615017
R-HSA-9615017
Reactome Name: FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
See in Reactome
|
R-HSA-70326
R-HSA-71387
R-HSA-9614085
R-HSA-74160
R-HSA-212436
R-HSA-1430728
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
|
R-HSA-71825
(
R-HSA-70263
)
R-HSA-71825
Reaction Name: G6PC hydrolyzes glucose 6-phosphate to form glucose and orthophosphate (liver)
See in Reactome
R-HSA-9623192
(
R-HSA-9615017
)
R-HSA-9623192
Reaction Name: G6PC gene expression is stimulated by FOXO1,FOXO3,FOXO4,FOXO6
See in Reactome
|
MONDO:0005290 |
MONDO:0005290
Disease Name: rhabdomyolysis
All associated enzymes in DAR:
PGAM2
ACADVL
AHCY
PGAM2 |
P15259 |
5.4.2.11
5.4.2.4
|
R-HSA-70263
R-HSA-70171
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-71445
(
R-HSA-70263
)
R-HSA-71445
Reaction Name: 2-Phospho-D-glycerate <=> 3-Phospho-D-glycerate
See in Reactome
R-HSA-71654
(
R-HSA-70171
)
R-HSA-71654
Reaction Name: 3-Phospho-D-glycerate <=> 2-Phospho-D-glycerate
See in Reactome
|
MONDO:0009249 |
ALDOB |
P05062 |
4.1.2.13
|
R-HSA-70263
R-HSA-70171
R-HSA-70350
|
R-HSA-5652084
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70342
(
R-HSA-70350
)
R-HSA-70342
Reaction Name: ALDOB tetramer cleaves Fru-1-P to GA and DHAP
See in Reactome
R-HSA-71495
(
R-HSA-70263
)
R-HSA-71495
Reaction Name: dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate <=> D-fructose 1,6-bisphosphate
See in Reactome
R-HSA-71496
(
R-HSA-70171
)
R-HSA-71496
Reaction Name: D-fructose 1,6-bisphosphate <=> dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate
See in Reactome
|
MONDO:0009251 |
FBP1 |
P09467 |
3.1.3.11
|
R-HSA-70263
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70479
(
R-HSA-70263
)
R-HSA-70479
Reaction Name: D-fructose 1,6-bisphosphate + H2O => D-fructose 6-phosphate + orthophosphate
See in Reactome
|
MONDO:0009287 |
G6PC1 |
P35575 |
3.1.3.9
|
R-HSA-70263
R-HSA-9615017
R-HSA-9615017
Reactome Name: FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
See in Reactome
|
R-HSA-70326
R-HSA-71387
R-HSA-9614085
R-HSA-74160
R-HSA-212436
R-HSA-1430728
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
|
R-HSA-71825
(
R-HSA-70263
)
R-HSA-71825
Reaction Name: G6PC hydrolyzes glucose 6-phosphate to form glucose and orthophosphate (liver)
See in Reactome
R-HSA-9623192
(
R-HSA-9615017
)
R-HSA-9623192
Reaction Name: G6PC gene expression is stimulated by FOXO1,FOXO3,FOXO4,FOXO6
See in Reactome
|
MONDO:0009864 |
PCK2 |
Q16822 |
4.1.1.32
|
R-HSA-70263
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-372819
(
R-HSA-70263
)
R-HSA-372819
Reaction Name: oxaloacetate + GTP => phosphoenolpyruvate + GDP + CO2 [mitochondrial matrix]
See in Reactome
|
MONDO:0009865 |
PGAM2 |
P15259 |
5.4.2.11
5.4.2.4
|
R-HSA-70263
R-HSA-70171
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-71445
(
R-HSA-70263
)
R-HSA-71445
Reaction Name: 2-Phospho-D-glycerate <=> 3-Phospho-D-glycerate
See in Reactome
R-HSA-71654
(
R-HSA-70171
)
R-HSA-71654
Reaction Name: 3-Phospho-D-glycerate <=> 2-Phospho-D-glycerate
See in Reactome
|
MONDO:0009866 |
PCK1 |
P35558 |
4.1.1.32
2.7.11.-
|
R-HSA-70263
R-HSA-9615017
R-HSA-9615017
Reactome Name: FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
See in Reactome
R-HSA-381340
R-HSA-381340
Reactome Name: Transcriptional regulation of white adipocyte differentiation
See in Reactome
R-HSA-9632974
R-HSA-9632974
Reactome Name: NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis
See in Reactome
|
R-HSA-70326
R-HSA-9006931
R-HSA-9006931
Reactome Name: Signaling by Nuclear Receptors
See in Reactome
R-HSA-212436
R-HSA-74160
R-HSA-71387
R-HSA-9614085
R-HSA-1430728
R-HSA-9024446
R-HSA-9024446
Reactome Name: NR1H2 and NR1H3-mediated signaling
See in Reactome
R-HSA-162582
R-HSA-1266738
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Signal Transduction
Developmental Biology
|
R-HSA-560472
(
R-HSA-381340
)
R-HSA-560472
Reaction Name: Expression of Phosphoenolpyruvate carboxykinase 1 (PEPCK-C)
See in Reactome
R-HSA-70241
(
R-HSA-70263
)
R-HSA-70241
Reaction Name: oxaloacetate + GTP => phosphoenolpyruvate + GDP + CO2 [cytosol]
See in Reactome
R-HSA-9605051
(
R-HSA-9632974
)
R-HSA-9605051
Reaction Name: Expression of PCK1 regulated by NR1H3
See in Reactome
R-HSA-9623280
(
R-HSA-9615017
)
R-HSA-9623280
Reaction Name: PCK1 gene expression is stimulated by FOXO1:PPARGC1A
See in Reactome
|
MONDO:0010392 |
PGK1 |
P00558 |
2.7.2.3
|
R-HSA-70263
R-HSA-70171
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70486
(
R-HSA-70263
)
R-HSA-70486
Reaction Name: ATP + 3-Phospho-D-glycerate <=> ADP + 1,3-bisphospho-D-glycerate
See in Reactome
R-HSA-71850
(
R-HSA-70171
)
R-HSA-71850
Reaction Name: 1,3-bisphospho-D-glycerate + ADP <=> 3-phospho-D-glycerate + ATP
See in Reactome
|
MONDO:0012747 |
ALDOA |
P04075 |
4.1.2.13
|
R-HSA-6798695
R-HSA-70171
R-HSA-114608
R-HSA-70263
|
R-HSA-70326
R-HSA-168256
R-HSA-76002
R-HSA-76002
Reactome Name: Platelet activation, signaling and aggregation
See in Reactome
R-HSA-168249
R-HSA-76005
R-HSA-76005
Reactome Name: Response to elevated platelet cytosolic Ca2+
See in Reactome
R-HSA-1430728
R-HSA-109582
R-HSA-71387
|
Immune System
Metabolism
Hemostasis
|
R-HSA-481007
(
R-HSA-114608
)
R-HSA-481007
Reaction Name: Exocytosis of platelet alpha granule contents
See in Reactome
R-HSA-6798745
(
R-HSA-6798695
)
R-HSA-6798745
Reaction Name: Exocytosis of tertiary granule lumen proteins
See in Reactome
R-HSA-6798748
(
R-HSA-6798695
)
R-HSA-6798748
Reaction Name: Exocytosis of secretory granule lumen proteins
See in Reactome
R-HSA-6800434
(
R-HSA-6798695
)
R-HSA-6800434
Reaction Name: Exocytosis of ficolin-rich granule lumen proteins
See in Reactome
R-HSA-71495
(
R-HSA-70263
)
R-HSA-71495
Reaction Name: dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate <=> D-fructose 1,6-bisphosphate
See in Reactome
R-HSA-71496
(
R-HSA-70171
)
R-HSA-71496
Reaction Name: D-fructose 1,6-bisphosphate <=> dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate
See in Reactome
|
MONDO:0012930 |
G6PC3 |
Q9BUM1 |
3.1.3.9
|
R-HSA-70263
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-3262512
(
R-HSA-70263
)
R-HSA-3262512
Reaction Name: G6PC3 hydrolyzes glucose 6-phosphate to form glucose and orthophosphate (ubiquitous)
See in Reactome
|
MONDO:0013046 |
ENO3 |
P13929 |
4.2.1.11
|
R-HSA-70263
R-HSA-70171
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70494
(
R-HSA-70263
)
R-HSA-70494
Reaction Name: Phosphoenolpyruvate + H2O <=> 2-Phospho-D-glycerate
See in Reactome
R-HSA-71660
(
R-HSA-70171
)
R-HSA-71660
Reaction Name: 2-Phospho-D-glycerate <=> Phosphoenolpyruvate + H2O
See in Reactome
|
MONDO:0013275 |
GPI |
P06744 |
5.3.1.9
|
R-HSA-6798695
R-HSA-5628897
R-HSA-5628897
Reactome Name: TP53 Regulates Metabolic Genes
See in Reactome
R-HSA-70171
R-HSA-70263
|
R-HSA-3700989
R-HSA-3700989
Reactome Name: Transcriptional Regulation by TP53
See in Reactome
R-HSA-70326
R-HSA-71387
R-HSA-212436
R-HSA-168249
R-HSA-168256
R-HSA-1430728
R-HSA-74160
R-HSA-73857
|
Immune System
Metabolism
Gene expression (Transcription)
|
R-HSA-6798748
(
R-HSA-6798695
)
R-HSA-6798748
Reaction Name: Exocytosis of secretory granule lumen proteins
See in Reactome
R-HSA-6800434
(
R-HSA-6798695
)
R-HSA-6800434
Reaction Name: Exocytosis of ficolin-rich granule lumen proteins
See in Reactome
R-HSA-70471
(
R-HSA-70171
)
R-HSA-70471
Reaction Name: alpha-D-glucose 6-phosphate <=> D-fructose 6-phosphate
See in Reactome
R-HSA-70475
(
R-HSA-5628897;
R-HSA-70263
)
R-HSA-70475
Reaction Name: D-fructose 6-phosphate <=> alpha-D-Glucose 6-phosphate
See in Reactome
|
MONDO:0014221 |
TPI1 |
P60174 |
5.3.1.1
4.2.3.3
|
R-HSA-70263
R-HSA-70171
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70454
(
R-HSA-70171
)
R-HSA-70454
Reaction Name: dihydroxyacetone phosphate <=> D-glyceraldehyde 3-phosphate
See in Reactome
R-HSA-70481
(
R-HSA-70263
)
R-HSA-70481
Reaction Name: D-glyceraldehyde 3-phosphate <=> dihydroxyacetone phosphate
See in Reactome
|
MONDO:0015025 |
MDH2 |
P40926 |
1.1.1.37
|
R-HSA-70263
R-HSA-71403
|
R-HSA-1428517
R-HSA-1428517
Reactome Name: The citric acid (TCA) cycle and respiratory electron transport
See in Reactome
R-HSA-71406
R-HSA-71406
Reactome Name: Pyruvate metabolism and Citric Acid (TCA) cycle
See in Reactome
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70979
(
R-HSA-71403
)
R-HSA-70979
Reaction Name: (S)-Malate + NAD+ <=> Oxaloacetate + NADH + H+
See in Reactome
R-HSA-71783
(
R-HSA-70263;
R-HSA-71403
)
R-HSA-71783
Reaction Name: Oxaloacetate + NADH + H+ <=> (S)-Malate + NAD+
See in Reactome
|
MONDO:0017366 |
MDH2 |
P40926 |
1.1.1.37
|
R-HSA-70263
R-HSA-71403
|
R-HSA-1428517
R-HSA-1428517
Reactome Name: The citric acid (TCA) cycle and respiratory electron transport
See in Reactome
R-HSA-71406
R-HSA-71406
Reactome Name: Pyruvate metabolism and Citric Acid (TCA) cycle
See in Reactome
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70979
(
R-HSA-71403
)
R-HSA-70979
Reaction Name: (S)-Malate + NAD+ <=> Oxaloacetate + NADH + H+
See in Reactome
R-HSA-71783
(
R-HSA-70263;
R-HSA-71403
)
R-HSA-71783
Reaction Name: Oxaloacetate + NADH + H+ <=> (S)-Malate + NAD+
See in Reactome
|
MONDO:0018141 |
PC |
P11498 |
6.4.1.1
|
R-HSA-196780
R-HSA-196780
Reactome Name: Biotin transport and metabolism
See in Reactome
R-HSA-70263
|
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-2993802
(
R-HSA-196780
)
R-HSA-3065959
(
R-HSA-196780
)
R-HSA-3065959
Reaction Name: An unknown protease degrades hCBXs
See in Reactome
R-HSA-3323111
(
R-HSA-196780
)
R-HSA-3323111
Reaction Name: Cytoslic carboxylases translocate to mitochondrial matrix
See in Reactome
R-HSA-70501
(
R-HSA-70263
)
R-HSA-70501
Reaction Name: Pyruvate + CO2 + ATP => ADP + Orthophosphate + Oxaloacetate
See in Reactome
|
MONDO:0018142 |
PC |
P11498 |
6.4.1.1
|
R-HSA-196780
R-HSA-196780
Reactome Name: Biotin transport and metabolism
See in Reactome
R-HSA-70263
|
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-2993802
(
R-HSA-196780
)
R-HSA-3065959
(
R-HSA-196780
)
R-HSA-3065959
Reaction Name: An unknown protease degrades hCBXs
See in Reactome
R-HSA-3323111
(
R-HSA-196780
)
R-HSA-3323111
Reaction Name: Cytoslic carboxylases translocate to mitochondrial matrix
See in Reactome
R-HSA-70501
(
R-HSA-70263
)
R-HSA-70501
Reaction Name: Pyruvate + CO2 + ATP => ADP + Orthophosphate + Oxaloacetate
See in Reactome
|
MONDO:0018143 |
PC |
P11498 |
6.4.1.1
|
R-HSA-196780
R-HSA-196780
Reactome Name: Biotin transport and metabolism
See in Reactome
R-HSA-70263
|
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-2993802
(
R-HSA-196780
)
R-HSA-3065959
(
R-HSA-196780
)
R-HSA-3065959
Reaction Name: An unknown protease degrades hCBXs
See in Reactome
R-HSA-3323111
(
R-HSA-196780
)
R-HSA-3323111
Reaction Name: Cytoslic carboxylases translocate to mitochondrial matrix
See in Reactome
R-HSA-70501
(
R-HSA-70263
)
R-HSA-70501
Reaction Name: Pyruvate + CO2 + ATP => ADP + Orthophosphate + Oxaloacetate
See in Reactome
|
MONDO:0020091 |
PGK1 |
P00558 |
2.7.2.3
|
R-HSA-70263
R-HSA-70171
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-70486
(
R-HSA-70263
)
R-HSA-70486
Reaction Name: ATP + 3-Phospho-D-glycerate <=> ADP + 1,3-bisphospho-D-glycerate
See in Reactome
R-HSA-71850
(
R-HSA-70171
)
R-HSA-71850
Reaction Name: 1,3-bisphospho-D-glycerate + ADP <=> 3-phospho-D-glycerate + ATP
See in Reactome
|
MONDO:0030072 |
MDH1 |
P40925 |
1.1.1.96
1.1.1.37
|
R-HSA-70263
|
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-198508
(
R-HSA-70263
)
R-HSA-198508
Reaction Name: malate + NAD+ <=> oxaloacetate + NADH + H+
See in Reactome
|
MONDO:0032880 |
GOT2 |
P00505 |
2.6.1.7
2.6.1.1
|
R-HSA-389661
R-HSA-389661
Reactome Name: Glyoxylate metabolism and glycine degradation
See in Reactome
R-HSA-8964539
R-HSA-8964539
Reactome Name: Glutamate and glutamine metabolism
See in Reactome
R-HSA-1614558
R-HSA-1614558
Reactome Name: Degradation of cysteine and homocysteine
See in Reactome
R-HSA-8963693
R-HSA-8963693
Reactome Name: Aspartate and asparagine metabolism
See in Reactome
R-HSA-70263
|
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-1614635
R-HSA-1430728
R-HSA-70326
R-HSA-71387
|
Metabolism
|
R-HSA-6784393
(
R-HSA-389661
)
R-HSA-6784393
Reaction Name: PXLP-K279-GOT2 dimer transaminates 4-OH-L-glutamate to 4-hydroxy-2-oxoglutarate (HOG)
See in Reactome
R-HSA-70596
(
R-HSA-8963693
)
R-HSA-70613
(
R-HSA-70263;
R-HSA-8964539
)
R-HSA-70613
Reaction Name: oxaloacetate + glutamate <=> aspartate + alpha-ketoglutarate [GOT2]
See in Reactome
R-HSA-9012597
(
R-HSA-1614558
)
R-HSA-9012597
Reaction Name: GOT2 dimer transfers amino group from L-Cys to 2OG to form 3MPYR and Glu
See in Reactome
|