MCID: CRB025
MIFTS: 45

Carbohydrate Metabolic Disorder

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Carbohydrate Metabolic Disorder

MalaCards integrated aliases for Carbohydrate Metabolic Disorder:

Name: Carbohydrate Metabolic Disorder 12 15
Disorder of Carbohydrate Metabolism 59 29 72
Carbohydrate Metabolism, Inborn Errors 44 72
Disorder of Carbohydrate Transport and Metabolism 12
Inborn Errors of Carbohydrate Metabolism 12
Inborn Carbohydrate Metabolism Disorder 12
Carbohydrate Metabolism Disorders 43
Carbohydrate Metabolism Disorder 55

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2978
MeSH 44 D002239
ICD10 33 E74 E74.8 E74.9
UMLS via Orphanet 73 C0149670
Orphanet 59 ORPHA79161
UMLS 72 C0007001 C0149670

Summaries for Carbohydrate Metabolic Disorder

MedlinePlus : 43 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process. Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal. These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder. Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

MalaCards based summary : Carbohydrate Metabolic Disorder, also known as disorder of carbohydrate metabolism, is related to galactosemia and glycogen storage disease due to glucose-6-phosphatase deficiency. An important gene associated with Carbohydrate Metabolic Disorder is INS (Insulin), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Bexarotene and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and t cells, and related phenotypes are no effect and homeostasis/metabolism

Disease Ontology : 12 An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.

Related Diseases for Carbohydrate Metabolic Disorder

Diseases related to Carbohydrate Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 galactosemia 32.7 GALT GALK1 G6PC
2 glycogen storage disease due to glucose-6-phosphatase deficiency 31.9 SLC37A4 G6PC
3 glycogen storage disease iii 31.5 GAA G6PC AGL
4 glycogen storage disease vi 31.3 PYGM G6PC
5 glycogen storage disease v 31.2 PYGM GAA
6 galactose epimerase deficiency 30.9 GALT GALK1
7 glycogen storage disease ii 30.9 PYGM MGAM GAA
8 glycogen storage disease ia 30.8 SLC37A4 PHKA2 INS GALK1 G6PC
9 glycogen storage disease vii 30.7 PYGM MGAM GBE1
10 fanconi-bickel syndrome 30.6 INS G6PC ABCC8
11 galactokinase deficiency 30.5 GALT GALK1
12 glycogen storage disease iv 30.4 GBE1 GAA G6PC AGL
13 primary hyperoxaluria 30.3 HOGA1 GRHPR AGXT
14 hyperglycemia 29.9 INS G6PC ABCC8
15 hypoglycemia 29.9 INS G6PC AGL ABCC8
16 glycogen storage disease 29.6 SLC37A4 PYGM PHKA2 GBE1 GAA G6PC
17 fructose-1,6-bisphosphatase deficiency 11.7
18 pyruvate carboxylase deficiency 11.5
19 pyruvate dehydrogenase e1-alpha deficiency 11.5
20 pentosuria 11.4
21 spinal muscular atrophy, type iii 11.2
22 congenital disorder of glycosylation, type in 11.2
23 congenital disorder of deglycosylation 11.2
24 hyperinsulinemic hypoglycemia 11.2
25 glucosephosphate dehydrogenase deficiency 11.2
26 proximal spinal muscular atrophy 11.2
27 mucopolysaccharidosis, type ii 11.2
28 renal glucosuria 10.5
29 epimerase deficiency galactosemia 10.4 GALT GALK1
30 d-glyceric aciduria 10.3
31 hyperoxaluria, primary, type i 10.3
32 hyperoxaluria, primary, type ii 10.3
33 glycogen storage disease ixb 10.3
34 glycogen storage disease, type ixd 10.3
35 glycerol kinase deficiency 10.3
36 transaldolase deficiency 10.3
37 hyperoxaluria, primary, type iii 10.3
38 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
39 transient neonatal diabetes mellitus 10.3
40 neonatal diabetes mellitus 10.3
41 disorder of pentose phosphate metabolism 10.3
42 glucose transport disorder 10.3
43 hirata disease 10.3 INS ABCC8
44 insulinomatosis and diabetes mellitus 10.2 INS ABCC8
45 sucrase-isomaltase deficiency, congenital 10.2
46 glycogen storage disease 0, liver 10.2
47 glycogen storage disease x 10.2
48 polyglucosan body neuropathy, adult form 10.2
49 danon disease 10.2
50 phosphoglycerate kinase 1 deficiency 10.2

Graphical network of the top 20 diseases related to Carbohydrate Metabolic Disorder:



Diseases related to Carbohydrate Metabolic Disorder

Symptoms & Phenotypes for Carbohydrate Metabolic Disorder

GenomeRNAi Phenotypes related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCC8 AGL AGXT ALG6 BTD G6PC

MGI Mouse Phenotypes related to Carbohydrate Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 ABCC8 AGL AGXT BTD G6PC GAA
2 liver/biliary system MP:0005370 9.76 AGL G6PC GALT GBE1 HOGA1 INS
3 muscle MP:0005369 9.5 AGL BTD GAA GBE1 INS PMM2
4 renal/urinary system MP:0005367 9.28 AGXT BTD G6PC GRHPR HOGA1 INS

Drugs & Therapeutics for Carbohydrate Metabolic Disorder

Drugs for Carbohydrate Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
2
Glucagon Approved Phase 4 16941-32-5
3
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
4 Gastrointestinal Agents Phase 4
5 Hormones Phase 4
6 Glucagon-Like Peptide 1 Phase 4
7 Anti-Obesity Agents Phase 4
8 Incretins Phase 4
9 Hormone Antagonists Phase 4
10 Hypoglycemic Agents Phase 4
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
12
Glycerol Approved, Investigational Phase 2 56-81-5 753
13 Protective Agents Phase 2
14
Sodium citrate Approved, Investigational Phase 1 68-04-2
15
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
16 Citrate Phase 1
17
Caffeine Approved 58-08-2 2519
18
Lactulose Approved 4618-18-2 11333
19 Micronutrients
20 Trace Elements

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
2 The Efficacy of a Once Weekly Glucagon-Like Peptide-1 Agonist on Body Weight/Composition and Metabolic Parameters in Persons With SCI Not yet recruiting NCT03292315 Phase 4 Exenatide 2 MG Injection [Bydureon]
3 A Multicenter, Double-Blind, Placebo-Controlled Trial to Evaluate the Frequency of Genetic Sucrase-Isomaltase Deficiency Genotypes, and the Efficacy and Safety of Sucraid® (Sacrosidase) Oral Solution in Subjects With Chronic Diarrhea and Sucrase Deficiency Withdrawn NCT02784067 Phase 4 Sucraid;Placebo
4 A Phase 3, Randomized, Double-blind, Placebo-controlled, Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT02960217 Phase 3 UX007;Placebo
5 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Unknown status NCT02014883 Phase 2 GLUT1 DS
6 A Controlled N-of-1 Before-and-after Study to Determine Safety and Efficacy Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Unknown status NCT02000960 Phase 2 Triheptanoin
7 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
8 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Study to Assess the Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Completed NCT01993186 Phase 2 UX007 (triheptanoin);Placebo Oil
9 Dietary Treatment of Glucose Transporter Type 1 Deficiency (G1D) Recruiting NCT03181399 Phase 2 Triheptanoin
10 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome (GLUT1 DS) Recruiting NCT02036853 Phase 2 Triheptanoin
11 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Active, not recruiting NCT02599961 Phase 2 UX007
12 Treatment Development of Triheptanoin for Glucose Transporter Type I Deficiency Withdrawn NCT02021526 Phase 1, Phase 2 Triheptanoin
13 Clinical Trial of Citric Acid Cycle Stimulation in Energy-deficiency States: Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) (NMTUT 2010B) Unknown status NCT02018315 Phase 1 Triheptanoin
14 Treatment Development of Triheptanoin (C7) for Glucose Transporter Type I Deficiency (G1D): A Phase I Maximum Tolerable Dose Trial Active, not recruiting NCT03041363 Phase 1 Triheptanoin
15 A Feasibility Study to Evaluate the Acceptability of Krio, a Food for Special Medical Purposes (FSMP) for Use in the Ketogenic Diet (KD) With Regard to Product Tolerance, Compliance and Acceptability Unknown status NCT03202108
16 Incidence of Type 2 Diabetes in the di@Bet.es Study: Role of Fatty Acid Transport System Regulated by VEGFB in the Development of Metabolic Diseases. Unknown status NCT02542735
17 Measuring the Glycemic Index of Pulse Based Breads Completed NCT03015506
18 A Multi-Center Study of the Prevalence of Known Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Variants and Functional Sucrase Activity by 13C-Sucrose Breath Test in Children With Chronic Diarrhea or Chronic Abdominal Pain Completed NCT01914003
19 Validation of Carbohydrate Intolerance Questionnaire Completed NCT03138902
20 Effect of Genetic Variation in Starch-digesting Enzymes on Digestibility and Glycemic Index of Rice Prepared in Different Ways Completed NCT03667963
21 A Feasibility Study to Evaluate the Acceptability of Keyo, a Food for Special Medical Purposes (FSMP) for Use in the Ketogenic Diet (KD) With Regard to Product Tolerance, Compliance and Acceptability Completed NCT02915211
22 Discovering Carbohydrate Metabolism Alterations in Normoglycemic Obese Patients Study Completed NCT03506581
23 Can Platelets/Lymphocytes Rate Be New Serological Index for Prognosis of Coronary Heart Disease Complicated With Impaired Glucose Tolerance: Basic Principles and Experimental Design Completed NCT02149056
24 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
25 Prevalence of Carbohydrate Intolerance in Lean and Overweight/Obese Children Recruiting NCT01967849
26 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Recruiting NCT03722212
27 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
28 A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa) Enrolling by invitation NCT03970278
29 Post Study Continuation of C7 for G1D No longer available NCT02018302 Triheptanoin

Search NIH Clinical Center for Carbohydrate Metabolic Disorder

Cochrane evidence based reviews: carbohydrate metabolism, inborn errors

Genetic Tests for Carbohydrate Metabolic Disorder

Genetic tests related to Carbohydrate Metabolic Disorder:

# Genetic test Affiliating Genes
1 Disorder of Carbohydrate Metabolism 29

Anatomical Context for Carbohydrate Metabolic Disorder

MalaCards organs/tissues related to Carbohydrate Metabolic Disorder:

41
Testes, Heart, T Cells, Liver, Brain, Kidney, Spinal Cord

Publications for Carbohydrate Metabolic Disorder

Articles related to Carbohydrate Metabolic Disorder:

(show top 50) (show all 79)
# Title Authors PMID Year
1
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review. 17
30925902 2019
2
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence. 17
30944902 2018
3
Repeat Cardiac Transplant Indicated by Severe Cardiac Allograft Vasculopathy in a Patient With Danon Disease. 17
31032605 2018
4
[Carbohydrate metabolic disorder in women with a neuroendocrine syndrome]. 9 38
8017575 1994
5
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. 38
30718057 2019
6
In-vivo anti-diabetic and wound healing potential of chitosan/alginate/maltodextrin/pluronic-based mixed polymeric micelles: Curcumin therapeutic potential. 38
30195611 2018
7
Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemia. 38
29444593 2018
8
Anti-hyperglycemic and antioxidant potential of Croton bonplandianus. Bail fractions in correlation with polyphenol content. 38
29238476 2017
9
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 38
28397058 2017
10
[The analysis of level of total immunoglobulin E (IgE) in blood serum of patients with various types of disorders of carbohydrate metabolism and blood groups 0 (I), A (II) and B (III).] 38
30802394 2017
11
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review. 38
27502837 2017
12
A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis. 38
30035403 2017
13
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. 38
29624224 2017
14
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation. 38
27771652 2016
15
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis. 38
26733289 2016
16
The Introduction of Submitted Approaches in Iranian Traditional Medicine for Treatment of Diabetes. 38
27840534 2016
17
The Introduction of Submitted Approaches in Iranian Traditional Medicine for Treatment of Diabetes. 38
27516697 2016
18
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. 38
26419375 2016
19
[Kidney diseases and metabolic disorders-Basics and applications required for general physicians. Topics: II. Disorder of carbohydrate metabolism]. 38
26591340 2015
20
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. 38
25388407 2015
21
[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. 38
25919556 2015
22
Fanconi-Bickel syndrome - mutation in SLC2A2 gene. 38
24912437 2014
23
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency. 38
24914713 2014
24
Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism? 38
25174965 2014
25
Metabolic profiling reveals disorder of carbohydrate metabolism in mouse fibroblast cells induced by titanium dioxide nanoparticles. 38
22996321 2013
26
Quality of life in children treated with restrictive diet for inherited metabolic disease. 38
23461789 2013
27
Protective effects of vescalagin from pink wax apple [Syzygium samarangense (Blume) Merrill and Perry] fruit against methylglyoxal-induced inflammation and carbohydrate metabolic disorder in rats. 38
23819528 2013
28
Insulin resistance in children with primary nephrotic syndrome and normal renal function. 38
22623021 2012
29
Hepatocellular carcinoma and focal nodular hyperplasia of the liver in a glycogen storage disease patient. 38
22761970 2012
30
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. 38
24175243 2012
31
Galactosemia: when is it a newborn screening emergency? 38
22483615 2012
32
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. 38
22369717 2012
33
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. 38
22214819 2012
34
Lafora disease: epidemiology, pathophysiology and management. 38
20527995 2010
35
Characterisation of Lafora-like bodies and other polyglucosan bodies in two aged dogs with neurological disease. 38
19010069 2010
36
Outcomes of siblings with classical galactosemia. 38
19181333 2009
37
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. 38
19480329 2009
38
Catalase activity, lipid peroxidation, cholesterol and triglyceride levels in alloxan--induced diabetes mellitus in female and male rats. 38
20830981 2009
39
Hypoglycemic and hypolipidemic effects of the aqueous fresh leaves extract of Clerodendrum capitatum in Wistar rats. 38
18055145 2008
40
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. 38
17603756 2007
41
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. 38
15671110 2005
42
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. 38
15532022 2004
43
[Disorder of carbohydrate metabolism]. 38
15206146 2004
44
Hippocampal synaptic plasticity and glutamate receptor regulation: influences of diabetes mellitus. 38
15094084 2004
45
Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC. 38
14741195 2004
46
Regulation of blood glucose level in diabetes mellitus using palatable diet composition. 38
14626853 2003
47
Concurrent hyperglycemia does not influence the long-term prognosis of unresectable hepatocellular carcinomas. 38
12918136 2003
48
[Characteristics of lipid profile in blood plasma of patients with metabolic syndrome and manifest disorder of carbohydrate metabolism]. 38
14669600 2003
49
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 38
12417303 2002
50
Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors. 38
12101432 2002

Variations for Carbohydrate Metabolic Disorder

Expression for Carbohydrate Metabolic Disorder

Search GEO for disease gene expression data for Carbohydrate Metabolic Disorder.

Pathways for Carbohydrate Metabolic Disorder

Pathways related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 SLC37A4 SI PYGM PMM2 PHKA2 MGAM
2
Show member pathways
12.68 SLC37A4 SI PYGM PHKA2 MGAM LCT
3
Show member pathways
12.45 SLC37A4 PYGM PHKA2 GBE1 GAA G6PC
4
Show member pathways
11.74 PYGM INS G6PC
5 11.71 PYGM PHKA2 G6PC
6
Show member pathways
11.65 PHKA2 INS ABCC8
7
Show member pathways
11.54 PMM2 GALT GALK1
8
Show member pathways
11.41 SI PYGM MGAM LCT GBE1 GALT
9 11.3 SLC37A4 SI MGAM LCT G6PC
10 11.28 INS G6PC ABCC8
11 11.23 PYGM PHKA2 GBE1 AGL
12 11.09 HOGA1 GRHPR AGXT
13 10.53 SI MGAM LCT

GO Terms for Carbohydrate Metabolic Disorder

Cellular components related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 SI PYGM MGAM GRHPR GBE1 GALK1

Biological processes related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.73 SLC37A4 INS G6PC
2 metabolic process GO:0008152 9.73 SI PYGM MGAM LCT GAA AGL
3 glucose metabolic process GO:0006006 9.69 SLC37A4 INS GAA
4 glycogen biosynthetic process GO:0005978 9.57 GBE1 AGL
5 galactose metabolic process GO:0006012 9.55 GALT GALK1
6 cellular nitrogen compound metabolic process GO:0034641 9.54 GRHPR AGXT
7 glyoxylate metabolic process GO:0046487 9.54 HOGA1 GRHPR AGXT
8 galactose catabolic process GO:0019388 9.52 GALT GALK1
9 polysaccharide digestion GO:0044245 9.5 SI MGAM LCT
10 glycogen metabolic process GO:0005977 9.5 SLC37A4 PYGM PHKA2 GBE1 GAA G6PC
11 glucose-6-phosphate transport GO:0015760 9.49 SLC37A4 G6PC
12 pyruvate biosynthetic process GO:0042866 9.48 HOGA1 AGXT
13 galactose catabolic process via UDP-galactose GO:0033499 9.46 GALT GALK1
14 glycogen catabolic process GO:0005980 9.46 PYGM GAA G6PC AGL
15 maltose metabolic process GO:0000023 9.43 MGAM GAA
16 glyoxylate catabolic process GO:0009436 9.4 HOGA1 AGXT
17 carbohydrate metabolic process GO:0005975 9.32 SI PYGM PHKA2 MGAM LCT INS

Molecular functions related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.73 PYGM MGAM LCT GAA
2 transferase activity, transferring glycosyl groups GO:0016757 9.71 PYGM GBE1 ALG6 AGL
3 carbohydrate binding GO:0030246 9.67 SI MGAM GAA AGL
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.55 SI MGAM LCT GAA AGL
5 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.46 GALK1 G6PC
6 maltose alpha-glucosidase activity GO:0032450 9.32 MGAM GAA
7 alpha-glucosidase activity GO:0090599 9.26 MGAM GAA
8 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.02 SI MGAM LCT GBE1 GAA
9 alpha-1,4-glucosidase activity GO:0004558 8.96 MGAM GAA
10 hydrolase activity GO:0016787 10.02 SI MGAM LCT GAA G6PC BTD

Sources for Carbohydrate Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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