MCID: GLY023
MIFTS: 38

Glycogen Storage Disease Type 0 malady

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular diseases

Aliases & Classifications for Glycogen Storage Disease Type 0

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Aliases & Descriptions for Glycogen Storage Disease Type 0:

Name: Glycogen Storage Disease Type 0 23
Glycogen Synthase Deficiency 23 65
Hypoglycemia with Deficiency of Glycogen Synthetase 23
Glycogen Synthetase Deficiency 23
 
Glycogen Storage Disease 0 23
Gsd Type 0 23
Gsd 0 23

Classifications:



External Ids:

ICD1027 E16.2
UMLS65 C0342748

Summaries for Glycogen Storage Disease Type 0

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Genetics Home Reference:23 Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.

MalaCards based summary: Glycogen Storage Disease Type 0, also known as glycogen synthase deficiency, is related to glycogen storage disease due to muscle and heart glycogen synthase deficiency and glycogen storage disease due to hepatic glycogen synthase deficiency. An important gene associated with Glycogen Storage Disease Type 0 is GYS2 (Glycogen Synthase 2), and among its related pathways are Glucagon signaling pathway and Galactose metabolism. Affiliated tissues include liver, heart and testes.

Wikipedia:68 Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase... more...

Related Diseases for Glycogen Storage Disease Type 0

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Graphical network of diseases related to Glycogen Storage Disease Type 0:



Diseases related to glycogen storage disease type 0

Symptoms for Glycogen Storage Disease Type 0

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Drugs & Therapeutics for Glycogen Storage Disease Type 0

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Drugs for Glycogen Storage Disease Type 0 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethotrexateapprovedPhase 414441959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
2
rituximabapprovedPhase 41582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
3
Folic Acidapproved, nutraceuticalPhase 4292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
4AntimetabolitesPhase 49454
5Nucleic Acid Synthesis InhibitorsPhase 43836
6Immunologic FactorsPhase 418483
7Vitamin B ComplexPhase 42847
8Immunosuppressive AgentsPhase 410422
9Antimetabolites, AntineoplasticPhase 45770
10Dermatologic AgentsPhase 44555
11Antirheumatic AgentsPhase 48496
12Folic Acid AntagonistsPhase 41643
13FolateNutraceuticalPhase 42924
14Vitamin B9NutraceuticalPhase 42924
15Folinic AcidNutraceuticalPhase 42604
16
MiglustatapprovedPhase 12172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat Hydrochloride
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
17Glycoside Hydrolase InhibitorsPhase 1111
18ImmunoglobulinsPhase 14477
19Cardiac GlycosidesPhase 1128
20Hypoglycemic AgentsPhase 14503
21Antiviral AgentsPhase 18071
22Anti-Infective AgentsPhase 117220
23AntibodiesPhase 14477
24Anti-Retroviral AgentsPhase 12794
25
Everolimusapproved1797159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
26
Sirolimusapproved, investigational179753123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
27
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
28
AcetylcholineexperimentalPhase 068951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
29pancreatin880
30insulin4278
31
Somatostatin15351110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
32Insulin, Globin Zinc4278
33Liver Extracts3572
34Calcium, Dietary4678
35Protein C Inhibitor85
36Pyridostigmine BromidePhase 022101-26-8
37Hormones11748
38Pharmaceutical Solutions7004
39BromidesPhase 0523
40Cholinergic AgentsPhase 03243
41Neurotransmitter AgentsPhase 014795
42Cholinesterase InhibitorsPhase 0498
43Alpha 1-Antitrypsin87

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
2An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe DiseaseCompletedNCT00701129Phase 4
3Pharmacokinetics of Alglucosidase Alfa in Patients Aged 8 Years of Age and OlderRecruitingNCT01410890Phase 4
4A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe DiseaseCompletedNCT00158600Phase 3
5A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
6Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked CornstarchCompletedNCT02054832
7Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
8Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease PopulationRecruitingNCT02338817
9Study of Glycogen Storage Disease Expression in CarriersRecruitingNCT02057731
10Energy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesRecruitingNCT02448667
11A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Phase 0
12Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation TherapiesRecruitingNCT01451879
13Shear Wave Sonoelastography in Pediatric Liver FibrosisRecruitingNCT02372682
14Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489
15Diet and Exercise in Pompe DiseaseNot yet recruitingNCT02363153Phase 0

Search NIH Clinical Center for Glycogen Storage Disease Type 0

Genetic Tests for Glycogen Storage Disease Type 0

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Anatomical Context for Glycogen Storage Disease Type 0

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MalaCards organs/tissues related to Glycogen Storage Disease Type 0:

33
Liver, Heart, Testes, Lung, Skin

Animal Models for Glycogen Storage Disease Type 0 or affiliated genes

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Publications for Glycogen Storage Disease Type 0

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Articles related to Glycogen Storage Disease Type 0:

idTitleAuthorsYear
1
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. (20051115)
2010
2
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). (20331987)
2010
3
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. (12072888)
2002
4
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (9691087)
1998

Variations for Glycogen Storage Disease Type 0

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Expression for genes affiliated with Glycogen Storage Disease Type 0

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Search GEO for disease gene expression data for Glycogen Storage Disease Type 0.

Pathways for genes affiliated with Glycogen Storage Disease Type 0

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Pathways related to Glycogen Storage Disease Type 0 according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.2GYS1, GYS2
2
Show member pathways
9.2GYS1, GYS2
3
Show member pathways
9.2GYS1, GYS2
4
Show member pathways
9.2GYS1, GYS2
5
Show member pathways
9.0GYG1, GYS1
6
Show member pathways
8.7AGL, GYS1, GYS2
78.6GYG1, GYS1, GYS2
8
Show member pathways
8.1GYG1, GYG2, GYS1, GYS2
9
Show member pathways
8.1GYG1, GYG2, GYS1, GYS2
10
Show member pathways
8.1GYG1, GYG2, GYS1, GYS2
11
Show member pathways
7.5AGL, GYG1, GYG2, GYS1, GYS2
12
Show member pathways
7.5AGL, GYG1, GYG2, GYS1, GYS2
13
Show member pathways
7.5AGL, GYG1, GYG2, GYS1, GYS2
147.5AGL, GYG1, GYG2, GYS1, GYS2

GO Terms for genes affiliated with Glycogen Storage Disease Type 0

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Biological processes related to Glycogen Storage Disease Type 0 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00059788.5GYG1, GYG2, GYS1, GYS2
2small molecule metabolic processGO:00442818.4AGL, GYS1, GYS2
3glucose metabolic processGO:00060067.5AGL, GYG1, GYG2, GYS1, GYS2

Molecular functions related to Glycogen Storage Disease Type 0 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen synthase activity, transferring glucose-1-phosphateGO:00615479.2GYS1, GYS2

Sources for Glycogen Storage Disease Type 0

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet