GSD2
MCID: GLY008
MIFTS: 59

Glycogen Storage Disease Ii (GSD2) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular diseases, Liver diseases, Blood diseases, Muscle diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Glycogen Storage Disease Ii

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Glycogen Storage Disease Ii:

Name: Glycogen Storage Disease Ii 52 11 70 12 13
Glycogen Storage Disease Type Ii 11 23 24 25 54 39 68
Pompe Disease 23 48 25 49 54 70 50
Acid Maltase Deficiency 11 23 24 25 49 70
Gsd Ii 23 48 24 25 70
Glycogenosis Type Ii 23 24 25 54
Gaa Deficiency 23 24 25 70
Acid Alpha-Glucosidase Deficiency 23 24 70
Alpha-1,4-Glucosidase Deficiency 48 25 70
Acid Maltase Deficiency Disease 48 25
Deficiency of Alpha-Glucosidase 48 25
Glycogen Storage Disease Type 2 48 54
Glycogen Storage Disease 2 70 27
Pompe's Disease 11 25
Gsd2 25 70
Amd 25 70
Glycogen Storage Disease Due to Acid Maltase Deficiency 54
Generalized Glycogen Storage Disease of Infants 68
Glycogenosis Due to Acid Maltase Deficiency 54
Lysosomal Alpha-1,4-Glucosidase Deficiency 11
 
Deficiency of Lysosomal Alpha-Glucosidase 48
Cardiac Form of Generalized Glycogenosis 68
Glycogenosis Generalized Cardiac Form 70
Alpha-1,4-Glucosidase Acid Deficiency 54
Gsd Due to Acid Maltase Deficiency 54
Glycogen Storage Disease, Type Ii 11
Cardiomegalia Glycogenica Diffusa 48
Deficiency of Glucoamylase 11
Cardiomegalia Glycogenica 70
Generalized Glycogenosis 11
Glucosidase, Acid Alpha- 12
Deficiency of Maltase 11
Glycogenosis, Type 2 11
Glycogenosis Type 2 54
Aglucosidase Alfa 48
Glycogenosis Ii 70
Gsd Type Ii 54
Gsd Type 2 54
Gsd-Ii 70
Gsdii 24

Characteristics:

Orphanet epidemiological data:

54
glycogen storage disease type ii:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: any age

HPO:

64
glycogen storage disease ii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 232300
Disease Ontology11 DOID:2752
ICD1030 E74.02
MeSH39 D006009
NCIt45 C84734
Orphanet54 ORPHA365
ICD10 via Orphanet31 E74.0
MESH via Orphanet40 D006009
UMLS via Orphanet69 C0017921

Summaries for Glycogen Storage Disease Ii

About this section
NINDS:49 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.  It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).  Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.  The enzyme performs its function in intracellular compartments called lysosomes.  Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.  Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.  Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity.  The severity of the disease and the age of onset are related to the degree of enzyme deficiency. 

MalaCards based summary: Glycogen Storage Disease Ii, also known as glycogen storage disease type ii, is related to hemangioma and neurological manifestations of pompe disease, and has symptoms including dyspnea, dyspnea and weakness. An important gene associated with Glycogen Storage Disease Ii is GAA (Glucosidase Alpha, Acid), and among its related pathways are Glycogen Metabolism and Lysosome. Affiliated tissues include heart, skeletal muscle and liver, and related mouse phenotype behavior/neurological.

Disease Ontology:11 A glycogen storage disease that has material basis in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.

Genetics Home Reference:25 Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

NIH Rare Diseases:48 Glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. this enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. this accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. in 2006, the u.s. food and drug administration (fda) approved the enzyme replacement therapy myozyme as a treatment for all patients with glycogen storage disease type 2. another similar drug called lumizyme has recently been approved for the treatment this disease.    last updated: 5/14/2015

OMIM:52 Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the... (232300) more...

UniProtKB/Swiss-Prot:70 Glycogen storage disease 2: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.

Wikipedia:71 Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase... more...

GeneReviews for NBK1261

Related Diseases for Glycogen Storage Disease Ii

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Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Iiia Glycogen Storage Disease Iv
Glycogen Storage Disease Xv Glycogen Storage Disease X
Glycogen Storage Disease Ib Glycogen Storage Disease Ic
Glycogen Storage Disease Vii Glycogen Storage Disease Vi
Glycogen Storage Disease Ixc Glycogen Storage Disease Xii
Glycogen Storage Disease Xiii Glycogen Storage Disease Ia
glycogen storage disease ii Glycogen Storage Disease Ix
Glycogen Storage Disease Ixa Glycogen Storage Disease Viii
Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioma29.2GAA, GYG1, PRKAG2, PYGM
2neurological manifestations of pompe disease12.2
3glycogen storage disease due to acid maltase deficiency, infantile onset12.1
4glycogen storage disease due to acid maltase deficiency, late-onset12.1
5x-linked liver glycogenosis type 211.9
6macular degeneration, age-related, 111.8
7adrenomyodystrophy11.5
8danon disease11.0
9glycogen storage disease, type ixa110.9
10bone marrow failure syndrome 210.8
11letterer-siwe disease10.8
12frontonasal dysplasia 210.2GAA, LAMP2
13neuronopathy, distal hereditary motor, type vi10.1GAA, PYGM
14glycogen storage disease10.1
15myxozoa10.1DMD, PYGM
16muscular dystrophy, rigid spine, 110.1DMD, GAA
17anuria10.1GAA, PYGM
18progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.1DMD, GAA
19myopathy10.1
20retinitis10.1
21spastic paraplegia 34, x-linked10.0GAA, LAMP2, PRKAG2
22epileptic encephalopathy, early infantile, 910.0LAMP2, PRKAG2
23long qt syndrome 910.0GAA, LAMP2, PRKAG2
24cubitus valgus with mental retardation and unusual facies10.0DMD, GAA, LAMP2
25choroiditis9.9
26respiratory failure9.9
27myotonia9.9
28endocardial fibroelastosis9.8
29cdkl5-related angelman-like syndrome9.8DMD, LAMP2, PRKAG2
30cataract9.8
31diabetic macular edema9.8
32endotheliitis9.8
33lysosomal storage disease9.8
34anorexia nervosa9.7
35rheumatoid arthritis9.6
36stargardt disease9.6
37arthritis9.6
38gastric cancer9.6
39inflammatory bowel disease9.6
40lymphoma9.6
41patau syndrome9.6
42sympathetic ophthalmia9.6
43dystonia9.6
44eye disease9.6
45retinal disease9.6
46conjunctivitis9.6
47thyroiditis9.6
48retinal degeneration9.6
49scotoma9.6
50candida glabrata9.6

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ii:



Diseases related to glycogen storage disease ii

Symptoms & Phenotypes for Glycogen Storage Disease Ii

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Symptoms by clinical synopsis from OMIM:

232300

Clinical features from OMIM:

232300

Human phenotypes related to Glycogen Storage Disease Ii:

 54 64 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia64 54 Occasional (29-5%) HP:0000158
2 seizures64 54 Very frequent (99-80%) HP:0001250
3 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
4 gait disturbance64 54 Very frequent (99-80%) HP:0001288
5 abnormality of the cardiovascular system54 Very frequent (99-80%)
6 hypertrophic cardiomyopathy64 54 Very frequent (99-80%) HP:0001639
7 cardiomegaly64 54 Very frequent (99-80%) HP:0001640
8 atrioventricular block64 54 Frequent (79-30%) HP:0001678
9 abnormality of metabolism/homeostasis54 Very frequent (99-80%)
10 dysphagia64 54 Very frequent (99-80%) HP:0002015
11 dyspnea64 54 Frequent (79-30%) HP:0002094
12 emphysema64 54 Very frequent (99-80%) HP:0002097
13 recurrent respiratory infections64 54 Occasional (29-5%) HP:0002205
14 hepatomegaly64 54 Occasional (29-5%) HP:0002240
15 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
16 dysphasia64 54 Very frequent (99-80%) HP:0002357
17 respiratory insufficiency due to muscle weakness64 54 Frequent (79-30%) HP:0002747
18 myopathy64 54 Occasional (29-5%) HP:0003198
19 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
20 generalized muscle weakness64 54 Very frequent (99-80%) HP:0003324
21 emg abnormality64 54 Very frequent (99-80%) HP:0003457
22 type ii diabetes mellitus64 54 Very frequent (99-80%) HP:0005978
23 abdominal wall muscle weakness64 54 Very frequent (99-80%) HP:0009023
24 arrhythmia54 Frequent (79-30%)
25 cognitive impairment64 54 Very frequent (99-80%) HP:0100543
26 hearing impairment64 HP:0000365
27 areflexia64 HP:0001284
28 wolff-parkinson-white syndrome64 HP:0001716
29 splenomegaly64 HP:0001744
30 fever64 HP:0001945
31 respiratory insufficiency64 HP:0002093
32 proximal muscle weakness64 HP:0003701
33 firm muscles64 HP:0003725
34 cerebral aneurysm64 HP:0004944
35 shortened pr interval64 HP:0005165
36 diaphragmatic paralysis64 HP:0006597
37 abnormal cns myelination64 HP:0011400

UMLS symptoms related to Glycogen Storage Disease Ii:


dyspnea, weakness

MGI Mouse Phenotypes related to Glycogen Storage Disease Ii according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6DMD, DNASE1L1, GAA, IGF2R, LAMP2, PYGM

Drugs & Therapeutics for Glycogen Storage Disease Ii

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

(show top 50)    (show all 100)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 4, Phase 11692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
MethotrexateapprovedPhase 415511959-05-2, 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 Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
3
Bortezomibapproved, investigationalPhase 4807179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
4
Cyclophosphamideapproved, investigationalPhase 4293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
5
Folic Acidapproved, nutraceutical, vet_approvedPhase 4439259-30-36037
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 (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
6
leucovorinapproved, NutraceuticalPhase 4323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
7Vitamin B ComplexPhase 44337
8Nucleic Acid Synthesis InhibitorsPhase 44962
9Folic Acid AntagonistsPhase 42257
10glucagonPhase 4478
11Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 413168
12IncretinsPhase 41579
13HormonesPhase 414415
14Hormone AntagonistsPhase 413180
15Glucagon-Like Peptide 1Phase 4715
16Gastrointestinal AgentsPhase 4, Phase 18402
17Immunosuppressive AgentsPhase 4, Phase 113086
18Anti-Asthmatic AgentsPhase 4, Phase 1, Phase 23488
19Adrenergic AgentsPhase 4, Phase 1, Phase 25352
20Bronchodilator AgentsPhase 4, Phase 1, Phase 22965
21AlbuterolPhase 4, Phase 1, Phase 2429
22Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21714
23Adrenergic AgonistsPhase 4, Phase 1, Phase 23027
24Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2957
25Neurotransmitter AgentsPhase 4, Phase 1, Phase 2, Early Phase 118340
26Autonomic AgentsPhase 4, Phase 1, Phase 210150
27Peripheral Nervous System AgentsPhase 4, Phase 1, Phase 223689
28Dermatologic AgentsPhase 4, Phase 15806
29Antirheumatic AgentsPhase 4, Phase 110956
30Antimetabolites, AntineoplasticPhase 47361
31Respiratory System AgentsPhase 4, Phase 1, Phase 24997
32Tocolytic AgentsPhase 4, Phase 1, Phase 2739
33AntimetabolitesPhase 412054
34Rho(D) Immune GlobulinPhase 4, Phase 1326
35Alkylating AgentsPhase 44827
36Immunoglobulins, IntravenousPhase 4, Phase 1333
37Antineoplastic Agents, AlkylatingPhase 44603
38AntibodiesPhase 4, Phase 16394
39gamma-GlobulinsPhase 4, Phase 1326
40ImmunoglobulinsPhase 4, Phase 16394
41Vitamin B9NutraceuticalPhase 44392
42FolateNutraceuticalPhase 44392
43Pharmaceutical SolutionsPhase 3, Phase 2, Phase 18192
44
Clenbuterolapproved, vet_approvedPhase 1, Phase 2337148-27-92783
Synonyms:
(+)-4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
(+-)-Clenbuterol
(+-)-clenbuterol
(-)-4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
(±)-clenbuterol
1-(4-Amino-3,5-dichloro-phenyl)-2-tert-butylamino-ethanol
1-(4-Amino-3,5-dichlorophenyl)-2-(tert-butylamino)ethanol
1-(4-amino-3,5-dichlorophenyl)-2-[(1,1-dimethylethyl)amino]ethanol
37148-27-9
4-Amino-3,5-dichloro-alpha-(((1,1-dimethylethyl)amino)methyl)benzenemethanol
4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
4-amino-3,5-Dichloro-alpha-(((1,1-dimethylethyl)amino)methyl)benzenemethanol
4-amino-alpha-((Tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
4-amino-α-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
50306-03-1
50499-60-0
AB00053680
AC-10284
AC1L1EGH
BPBio1_000451
BRD-A75726477-003-04-9
BRN 1076467
BSPBio_000409
BSPBio_002609
C12H18Cl2N2O
CHEBI:174690
CHEMBL49080
CID2783
CLENBUTEROL
Clenbuterol (INN)
Clenbuterol [BAN:INN]
Clenbuterolum
Clenbuterolum [INN-Latin]
Clenbuterolum [inn-latin]
Contraspasmin
Contraspasmin (TN)
D07713
 
DB01407
DivK1c_000794
EINECS 253-366-0
EINECS 256-531-5
EINECS 256-608-3
HMS2089I15
IDI1_000794
KBio1_000794
KBio2_002044
KBio2_004612
KBio2_007180
KBio3_001829
KBioGR_001066
KBioGR_001518
KBioSS_002044
LS-30602
MolPort-003-845-975
NAB-365
NCGC00163150-01
NCGC00163150-02
NCGC00163150-03
NCGC00163150-04
NINDS_000794
Planipart
Planipart [veterinary]
Planipart [veterinary] (TN)
Prestwick0_000345
Prestwick1_000345
Prestwick2_000345
Prestwick3_000345
SPBio_002330
Spectrum3_000975
Spectrum4_000743
Spectrum4_001099
Spectrum5_001497
Spectrum_001564
UNII-XTZ6AXU7KN
clenbuterol
nchembio.307-comp6
45
MiglustatapprovedPhase 1, Phase 22172599-27-051634
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 [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
46
Valproic Acidapproved, investigationalPhase 232799-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
47Insulin, Globin ZincPhase 24645
48insulinPhase 24646
49Hypoglycemic AgentsPhase 1, Phase 25896
50Glycoside Hydrolase InhibitorsPhase 1, Phase 2128

Interventional clinical trials:

(show top 50)    (show all 107)
idNameStatusNCT IDPhase
1CPAP for Infantile Pompe DiseaseUnknown statusNCT02405624Phase 4
2Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseCompletedNCT02405598Phase 4
3An 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
4Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 4
5High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
6Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
7Glucagon Efficiency After High and Low Carbohydrate DietCompletedNCT02578498Phase 4
8Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
9Immune Modulation Therapy for Pompe DiseaseRecruitingNCT02525172Phase 4
10Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe DiseaseRecruitingNCT01410890Phase 4
11Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 4
12Immune Tolerance Induction StudyRecruitingNCT00701701Phase 4
13Growth and Development Study of Alglucosidase Alfa.Active, not recruitingNCT00486889Phase 4
14A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe DiseaseTerminatedNCT01597596Phase 4
15A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe DiseaseTerminatedNCT01526785Phase 4
16A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe DiseaseCompletedNCT00059280Phase 2, Phase 3
17Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602CompletedNCT00125879Phase 2, Phase 3
18Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory SupportCompletedNCT00268944Phase 3
19A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe DiseaseCompletedNCT00158600Phase 3
20Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe DiseaseRecruitingNCT02782741Phase 3
21NeoGAA Extension StudyEnrolling by invitationNCT02032524Phase 2, Phase 3
22BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)TerminatedNCT01924845Phase 3
23A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type IICompletedNCT00051935Phase 2
24Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement TherapyCompletedNCT01942590Phase 1, Phase 2
25rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)CompletedNCT00053573Phase 1, Phase 2
26Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement TherapyCompletedNCT01885936Phase 1, Phase 2
27A Study of rhGAA in Patients With Late-Onset Pompe DiseaseCompletedNCT00250939Phase 2
28Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe DiseaseCompletedNCT00976352Phase 1, Phase 2
29Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) StudiesCompletedNCT00763932Phase 2
30Extension Study of Long-term Safety and Efficacy of Myozyme for a Single Patient With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored ERT Studies.CompletedNCT00765414Phase 2
31Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe DiseaseCompletedNCT01230801Phase 1, Phase 2
32Drug-drug Interaction StudyCompletedNCT01380743Phase 2
33Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe DiseaseCompletedNCT00025896Phase 2
34Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body DiseaseCompletedNCT00947960Phase 2
35Effectiveness of Oral Insulin in Unstable Type 1 Diabetes PatientsCompletedNCT00867594Phase 2
36VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe DiseaseRecruitingNCT02898753Phase 1, Phase 2
37The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)RecruitingNCT02432768Phase 2
38First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221Active, not recruitingNCT02675465Phase 1, Phase 2
39Extension Study for Patients Who Have Participated in a BMN 701 StudyActive, not recruitingNCT01435772Phase 2
40Sodium Valproate for GSDVActive, not recruitingNCT03112889Phase 2
41A Study to Assess Safety and Efficacy of NeoGAA Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase AlfaNot yet recruitingNCT03019406Phase 2
42Triheptanoin in Mc ArdleNot yet recruitingNCT02919631Phase 2
43Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)Not yet recruitingNCT03181399Phase 2
44Study to Evaluate the Safety of AT2220 in Pompe DiseaseTerminatedNCT00688597Phase 2
45A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)TerminatedNCT02191917Phase 2
46High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe DiseaseWithdrawnNCT01656590Phase 2
47Albuterol in Individuals With Late Onset Pompe Disease (LOPD)CompletedNCT01859624Phase 1
48Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.CompletedNCT01898364Phase 1
49A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
50Treatment Development of Triheptanoin (G1D)RecruitingNCT03041363Phase 1

Search NIH Clinical Center for Glycogen Storage Disease Ii


Cochrane evidence based reviews: glycogen storage disease type ii

Genetic Tests for Glycogen Storage Disease Ii

About this section

Genetic tests related to Glycogen Storage Disease Ii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Ii27
2 Glycogen Storage Disease Type Ii (pompe Disease)24 GAA

Anatomical Context for Glycogen Storage Disease Ii

About this section

MalaCards organs/tissues related to Glycogen Storage Disease Ii:

36
Heart, Skeletal muscle, Liver

Publications for Glycogen Storage Disease Ii

About this section

Articles related to Glycogen Storage Disease Ii:

idTitleAuthorsYear
1
Molecular genetics of late onset glycogen storage disease II in Italy. (17915575)
2007
2
Echocardiographic features in the cardiac type of glycogen storage disease II. (6572589)
1983
3
Studies in glycogen storage disease. II. Heterogeneity in the inheritance of glycogen storage diseases. (4295468)
1967
4
Glycogen storage disease. II. Histochemical studies of glycogenolysis in human hearts obtained postmortem, with special reference to glycogen storage disease. (24539253)
1950

Variations for Glycogen Storage Disease Ii

About this section

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ii:

70 (show all 130)
id Symbol AA change Variation ID SNP ID
1GAAp.Leu299ArgVAR_004288rs121907940
2GAAp.Met318ThrVAR_004289rs121907936
3GAAp.Trp402ArgVAR_004290
4GAAp.Gly478ArgVAR_004291rs778068209
5GAAp.Trp481ArgVAR_004292rs772883420
6GAAp.Met519ThrVAR_004293rs786204720
7GAAp.Met519ValVAR_004294
8GAAp.Glu521LysVAR_004295rs121907937
9GAAp.Ser529ValVAR_004296rs121907941
10GAAp.Pro545LeuVAR_004297rs121907942
11GAAp.Ser566ProVAR_004298
12GAAp.Gly643ArgVAR_004301rs28937909
13GAAp.Asp645GluVAR_004302rs28940868
14GAAp.Asp645HisVAR_004303rs368438393
15GAAp.Asp645AsnVAR_004304rs368438393
16GAAp.Cys647TrpVAR_004305rs776948121
17GAAp.Gly648SerVAR_004306rs536906561
18GAAp.Arg672GlnVAR_004307rs778418246
19GAAp.Arg672TrpVAR_004308rs757111744
20GAAp.Arg725TrpVAR_004310rs28939100
21GAAp.Pro768ArgVAR_004312
22GAAp.Val949AspVAR_004318
23GAAp.Arg600HisVAR_008689rs377544304
24GAAp.Gly615ArgVAR_008690rs549029029
25GAAp.Cys103GlyVAR_018078rs398123174
26GAAp.Gly219ArgVAR_018079rs370950728
27GAAp.Pro285ArgVAR_018080
28GAAp.Tyr292CysVAR_018081
29GAAp.Gly293ArgVAR_018082rs121907945
30GAAp.His308ProVAR_018083
31GAAp.Gly309ArgVAR_018084rs543300039
32GAAp.Leu312ArgVAR_018085
33GAAp.Leu355ProVAR_018086rs766074609
34GAAp.Cys374ArgVAR_018087
35GAAp.Leu405ProVAR_018088
36GAAp.Tyr455PheVAR_018089
37GAAp.Gly549ArgVAR_018091
38GAAp.Leu552ProVAR_018092rs779556619
39GAAp.Tyr575SerVAR_018093
40GAAp.Glu579LysVAR_018094
41GAAp.Arg600CysVAR_018095rs764670084
42GAAp.Gly607AspVAR_018096
43GAAp.Ala880AspVAR_018097
44GAAp.Leu208ProVAR_029025
45GAAp.Arg224TrpVAR_029026rs757700700
46GAAp.Ala237ValVAR_029027rs121907944
47GAAp.Glu262LysVAR_029028rs201896815
48GAAp.Pro324LeuVAR_029029rs750030887
49GAAp.Trp330GlyVAR_029030
50GAAp.Pro361LeuVAR_029031rs755253527
51GAAp.Gly377ArgVAR_029032rs752002666
52GAAp.Asp404AsnVAR_029033rs141533320
53GAAp.Met408ValVAR_029034rs560575383
54GAAp.Arg437CysVAR_029035rs770610356
55GAAp.Ala445ProVAR_029036
56GAAp.Asp489AsnVAR_029037rs398123169
57GAAp.His612GlnVAR_029038
58GAAp.Leu901GlnVAR_029039
59GAAp.Pro457LeuVAR_029040
60GAAp.Tyr191CysVAR_046467
61GAAp.His308LeuVAR_046468
62GAAp.Arg375LeuVAR_046469rs142752477
63GAAp.Gln401ArgVAR_046470
64GAAp.Pro522AlaVAR_046471
65GAAp.Arg585MetVAR_046472
66GAAp.Ser599TyrVAR_046473rs753505203
67GAAp.Ser619ArgVAR_046475
68GAAp.Gly638TrpVAR_046476rs757617999
69GAAp.Arg660HisVAR_046477rs374143224
70GAAp.Arg672ThrVAR_046478
71GAAp.Arg702CysVAR_046479rs786204645
72GAAp.Ser46ProVAR_068564rs777215354
73GAAp.Cys103ArgVAR_068567
74GAAp.Cys108GlyVAR_068568
75GAAp.Cys127PheVAR_068569
76GAAp.Arg190HisVAR_068570rs528367092
77GAAp.Pro217LeuVAR_068571
78GAAp.Arg224ProVAR_068574
79GAAp.Arg224GlnVAR_068575rs200210219
80GAAp.Thr234LysVAR_068576
81GAAp.Thr234ArgVAR_068577
82GAAp.Ser251LeuVAR_068578rs200856561
83GAAp.Ser254LeuVAR_068579rs577915581
84GAAp.Pro266SerVAR_068580
85GAAp.Pro285SerVAR_068582
86GAAp.Leu291PheVAR_068584rs773417785
87GAAp.Leu291ProVAR_068585
88GAAp.Asn316IleVAR_068587
89GAAp.Met318LysVAR_068588
90GAAp.Gly335GluVAR_068589rs730880022
91GAAp.Gly335ArgVAR_068590rs202095215
92GAAp.Pro347ArgVAR_068591
93GAAp.Pro397LeuVAR_068594rs776008078
94GAAp.Asp419ValVAR_068595
95GAAp.Pro457HisVAR_068596
96GAAp.Pro482ArgVAR_068598
97GAAp.Gly483ValVAR_068599
98GAAp.Ala486ProVAR_068600
99GAAp.Glu521GlnVAR_068601
100GAAp.Pro522SerVAR_068602
101GAAp.Ser523TyrVAR_068603
102GAAp.Phe525TyrVAR_068604
103GAAp.Ile557PheVAR_068605
104GAAp.Cys558SerVAR_068606
105GAAp.Asn570LysVAR_068607
106GAAp.His572GlnVAR_068608rs772962666
107GAAp.Tyr575CysVAR_068609
108GAAp.Gly576ArgVAR_068610
109GAAp.Arg594HisVAR_068612rs775450536
110GAAp.Arg594ProVAR_068613rs775450536
111GAAp.Ser601LeuVAR_068614
112GAAp.Thr602AlaVAR_068615rs781484283
113GAAp.Ala610ValVAR_068616
114GAAp.His612TyrVAR_068618
115GAAp.Thr614LysVAR_068619rs369531647
116GAAp.Ser627ProVAR_068620
117GAAp.Asn635LysVAR_068622
118GAAp.Gly638ValVAR_068623
119GAAp.Gly648AspVAR_068624
120GAAp.Arg702LeuVAR_068626rs398123172
121GAAp.Thr737AsnVAR_068629
122GAAp.Gln743LysVAR_068630
123GAAp.Trp746GlyVAR_068631
124GAAp.Trp746SerVAR_068632rs752921215
125GAAp.Arg819ProVAR_068633
126GAAp.Val916PheVAR_068634
127GAAp.Leu935ProVAR_068635
128GAAp.His568LeuVAR_070018
129GAAp.Tyr766CysVAR_070019rs144016984
130GAAp.Pro913ArgVAR_070020

Clinvar genetic disease variations for Glycogen Storage Disease Ii:

5 (show all 112)
id Gene Variation Type Significance SNP ID Assembly Location
1GAANM_ 000152.4(GAA): c.1004G> A (p.Gly335Glu)SNVPathogenicrs730880022GRCh37Chr 17, 78082137: 78082137
2GAANM_ 000152.4(GAA): c.2078dupA (p.Ala694Glyfs)duplicationPathogenicrs730880372GRCh37Chr 17, 78087054: 78087054
3GAANM_ 000152.4(GAA): c.896T> C (p.Leu299Pro)SNVPathogenicrs121907940GRCh37Chr 17, 78081636: 78081636
4GAANM_ 000152.4(GAA): c.1437G> A (p.Lys479=)SNVPathogenicrs796051877GRCh37Chr 17, 78083854: 78083854
5GAANM_ 000152.4(GAA): c.1933G> A (p.Asp645Asn)SNVPathogenic/ Likely pathogenicrs368438393GRCh37Chr 17, 78086719: 78086719
6GAANM_ 000152.4(GAA): c.2014C> T (p.Arg672Trp)SNVPathogenic/ Likely pathogenicrs757111744GRCh38Chr 17, 80113001: 80113001
7GAANM_ 000152.4(GAA): c.1A> G (p.Met1Val)SNVLikely pathogenicrs786204467GRCh37Chr 17, 78078386: 78078386
8GAANM_ 000152.4(GAA): c.1843G> A (p.Gly615Arg)SNVLikely pathogenicrs549029029GRCh37Chr 17, 78086465: 78086465
9GAANM_ 000152.4(GAA): c.925G> A (p.Gly309Arg)SNVLikely pathogenicrs543300039GRCh37Chr 17, 78081665: 78081665
10GAANM_ 000152.4(GAA): c.784G> A (p.Glu262Lys)SNVLikely pathogenicrs201896815GRCh37Chr 17, 78081447: 78081447
11GAANM_ 000152.4(GAA): c.569G> A (p.Arg190His)SNVLikely pathogenicrs528367092GRCh37Chr 17, 78079570: 78079570
12GAANM_ 000152.4(GAA): c.1051delG (p.Val351Cysfs)deletionPathogenic/ Likely pathogenicrs786204507GRCh37Chr 17, 78082184: 78082184
13GAANM_ 000152.4(GAA): c.1156C> T (p.Gln386Ter)SNVLikely pathogenicrs786204517GRCh37Chr 17, 78082368: 78082368
14GAANM_ 000152.4(GAA): c.1411_ 1414delGAGA (p.Glu471Profs)deletionLikely pathogenicrs770276275GRCh37Chr 17, 78083828: 78083831
15GAANM_ 000152.4(GAA): c.766_ 785del20insC (p.Tyr256Argfs)indelPathogenic/ Likely pathogenicrs786204532GRCh37Chr 17, 78081429: 78081448
16GAANM_ 000152.4(GAA): c.1942G> A (p.Gly648Ser)SNVLikely pathogenicrs536906561GRCh37Chr 17, 78086728: 78086728
17GAANM_ 000152.4(GAA): c.172C> T (p.Gln58Ter)SNVLikely pathogenicrs201185475GRCh37Chr 17, 78078557: 78078557
18GAANM_ 000152.4(GAA): c.2140delC (p.His714Thrfs)deletionPathogenic/ Likely pathogenicrs786204549GRCh37Chr 17, 78087116: 78087116
19GAANM_ 000152.4(GAA): c.2646+2T> ASNVLikely pathogenicrs786204561GRCh37Chr 17, 78092158: 78092158
20GAANM_ 000152.4(GAA): c.1827delC (p.Tyr609Terfs)deletionPathogenic/ Likely pathogenicrs781088002GRCh37Chr 17, 78086449: 78086449
21GAANM_ 000152.4(GAA): c.343C> T (p.Gln115Ter)SNVLikely pathogenicrs786204614GRCh37Chr 17, 78078728: 78078728
22GAANM_ 000152.4(GAA): c.2024_ 2026delACA (p.Asn675del)deletionLikely pathogenicrs786204621GRCh37Chr 17, 78086810: 78086812
23GAANM_ 000152.4(GAA): c.1441T> C (p.Trp481Arg)SNVLikely pathogenicrs772883420GRCh37Chr 17, 78084529: 78084529
24GAANM_ 000152.4(GAA): c.2608C> T (p.Arg870Ter)SNVLikely pathogenicrs780321415GRCh37Chr 17, 78092118: 78092118
25GAANM_ 000152.4(GAA): c.1933G> C (p.Asp645His)SNVLikely pathogenicrs368438393GRCh37Chr 17, 78086719: 78086719
26GAANM_ 000152.4(GAA): c.1548G> A (p.Trp516Ter)SNVPathogenic/ Likely pathogenicrs140826989GRCh38Chr 17, 80110837: 80110837
27GAANM_ 000152.4(GAA): c.2104C> T (p.Arg702Cys)SNVLikely pathogenicrs786204645GRCh37Chr 17, 78087080: 78087080
28GAANM_ 000152.4(GAA): c.1128_ 1129delGGinsC (p.Trp376Cysfs)indelPathogenic/ Likely pathogenicrs786204646GRCh37Chr 17, 78082340: 78082341
29GAANM_ 000152.4(GAA): c.525_ 526delTG (p.Asn177Profs)deletionLikely pathogenicrs767882689GRCh38Chr 17, 80105111: 80105112
30GAANM_ 000152.4(GAA): c.365delT (p.Met122Argfs)deletionLikely pathogenicrs786204661GRCh38Chr 17, 80104951: 80104951
31GAANM_ 000152.4(GAA): c.655G> A (p.Gly219Arg)SNVPathogenic/ Likely pathogenicrs370950728GRCh37Chr 17, 78079656: 78079656
32GAANM_ 000152.4(GAA): c.1309C> T (p.Arg437Cys)SNVLikely pathogenicrs770610356GRCh37Chr 17, 78082610: 78082610
33GAANM_ 000152.4(GAA): c.1556T> C (p.Met519Thr)SNVLikely pathogenicrs786204720GRCh37Chr 17, 78084744: 78084744
34GAANM_ 000152.4(GAA): c.1826dupA (p.Tyr609Terfs)duplicationLikely pathogenicrs786204727GRCh37Chr 17, 78086448: 78086448
35GAANM_ 000152.4(GAA): c.1979G> A (p.Arg660His)SNVPathogenic/ Likely pathogenicrs374143224GRCh37Chr 17, 78086765: 78086765
36GAANM_ 000152.4(GAA): c.1438-1G> CSNVLikely pathogenicrs147804176GRCh38Chr 17, 80110726: 80110726
37GAANM_ 000152.4(GAA): c.1802C> T (p.Ser601Leu)SNVPathogenicrs374470794GRCh37Chr 17, 78086424: 78086424
38GAANM_ 000152.4(GAA): c.2238G> C (p.Trp746Cys)SNVPathogenicrs1800312GRCh37Chr 17, 78090815: 78090815
39GAANM_ 000152.4(GAA): c.1655T> C (p.Leu552Pro)SNVPathogenicrs779556619GRCh37Chr 17, 78085800: 78085800
40GAANM_ 000152.4(GAA): c.1912G> T (p.Gly638Trp)SNVPathogenicrs757617999GRCh37Chr 17, 78086698: 78086698
41GAANM_ 000152.4(GAA): c.546G> A (p.Thr182=)SNVPathogenicrs143523371GRCh37Chr 17, 78078931: 78078931
42GAANM_ 000152.4(GAA): c.853C> T (p.Pro285Ser)SNVLikely pathogenicrs886042086GRCh37Chr 17, 78081516: 78081516
43GAANM_ 000152.4(GAA): c.546G> C (p.Thr182=)SNVPathogenicrs143523371GRCh37Chr 17, 78078931: 78078931
44GAANM_ 000152.4(GAA): c.934delC (p.Leu312Cysfs)deletionPathogenicrs886042358GRCh37Chr 17, 78081674: 78081674
45GAANM_ 000152.4(GAA): c.258dupC (p.Asn87Glnfs)duplicationPathogenicrs886042496GRCh37Chr 17, 78078643: 78078643
46GAANM_ 000152.4(GAA): c.1124G> T (p.Arg375Leu)SNVPathogenic/ Likely pathogenicrs142752477GRCh37Chr 17, 78082336: 78082336
47GAANM_ 000152.4(GAA): c.1064T> C (p.Leu355Pro)SNVPathogenicrs766074609GRCh37Chr 17, 78082197: 78082197
48GAANM_ 000152.4(GAA): c.2501_ 2502delCA (p.Thr834Argfs)deletionPathogenicrs886043343GRCh37Chr 17, 78092011: 78092012
49GAANM_ 000152.4(GAA): c.1754+1G> ASNVPathogenicrs886043399GRCh37Chr 17, 78085900: 78085900
50GAANM_ 000152.4(GAA): c.736delC (p.Leu246Phefs)deletionPathogenic/ Likely pathogenicrs886043920GRCh37Chr 17, 78081399: 78081399
51GAANM_ 000152.4(GAA): c.752C> T (p.Ser251Leu)SNVLikely pathogenicrs200856561GRCh38Chr 17, 80107616: 80107616
52GAANM_ 000152.4(GAA): c.761C> T (p.Ser254Leu)SNVLikely pathogenicrs577915581GRCh38Chr 17, 80107625: 80107625
53GAANM_ 000152.3(GAA): c.1636+460_ 2672deldeletionPathogenicGRCh38Chr 17, 80111485: 80118678
54GAANM_ 000152.4(GAA): c.2704_ 2716dupCAGAAGGTGACTG (p.Val906Alafs)duplicationPathogenicrs1057516189GRCh38Chr 17, 80118710: 80118722
55GAANM_ 000152.4(GAA): c.1194+2T> CSNVLikely pathogenicrs1057516215GRCh37Chr 17, 78082408: 78082408
56GAANM_ 000152.4(GAA): c.169C> T (p.Gln57Ter)SNVLikely pathogenicrs1057516251GRCh37Chr 17, 78078554: 78078554
57GAANM_ 000152.4(GAA): c.1799G> A (p.Arg600His)SNVLikely pathogenicrs377544304GRCh37Chr 17, 78086421: 78086421
58GAANM_ 000152.4(GAA): c.1856G> A (p.Ser619Asn)SNVLikely pathogenicrs753269119GRCh37Chr 17, 78086478: 78086478
59GAANM_ 000152.4(GAA): c.2227C> T (p.Gln743Ter)SNVLikely pathogenicrs1057516277GRCh37Chr 17, 78090804: 78090804
60GAANM_ 000152.4(GAA): c.1076-2A> GSNVLikely pathogenicrs1057516290GRCh37Chr 17, 78082286: 78082286
61GAANM_ 000152.4(GAA): c.2213G> A (p.Trp738Ter)SNVLikely pathogenicrs1057516327GRCh38Chr 17, 80116991: 80116991
62GAANM_ 000152.4(GAA): c.2214G> A (p.Trp738Ter)SNVLikely pathogenicrs1057516328GRCh38Chr 17, 80116992: 80116992
63GAANM_ 000152.4(GAA): c.2704C> T (p.Gln902Ter)SNVLikely pathogenicrs1057516341GRCh37Chr 17, 78092509: 78092509
64GAANM_ 000152.4(GAA): c.1143delC (p.Ala382Leufs)deletionLikely pathogenicrs1057516359GRCh37Chr 17, 78082355: 78082355
65GAANM_ 000152.4(GAA): c.2242G> T (p.Glu748Ter)SNVLikely pathogenicrs1057516363GRCh38Chr 17, 80117020: 80117020
66GAANM_ 000152.4(GAA): c.573C> A (p.Tyr191Ter)SNVLikely pathogenicrs376229714GRCh38Chr 17, 80105775: 80105775
67GAANM_ 000152.4(GAA): c.1076-22T> GSNVLikely pathogenicrs762260678GRCh38Chr 17, 80108467: 80108467
68GAANM_ 000152.4(GAA): c.1687C> T (p.Gln563Ter)SNVLikely pathogenicrs1057516426GRCh37Chr 17, 78085832: 78085832
69GAANM_ 000152.4(GAA): c.281_ 282delCT (p.Pro94Argfs)deletionLikely pathogenicrs1057516503GRCh37Chr 17, 78078666: 78078667
70GAANM_ 000152.4(GAA): c.1115A> T (p.His372Leu)SNVLikely pathogenicrs1057516520GRCh38Chr 17, 80108528: 80108528
71GAANM_ 000152.4(GAA): c.1192dupC (p.Leu398Profs)duplicationLikely pathogenicrs1057516546GRCh38Chr 17, 80108605: 80108605
72GAANM_ 000152.4(GAA): c.2185delC (p.Leu729Trpfs)deletionLikely pathogenicrs1057516581GRCh37Chr 17, 78087161: 78087161
73GAANM_ 000152.4(GAA): c.875A> G (p.Tyr292Cys)SNVLikely pathogenicrs1057516600GRCh37Chr 17, 78081615: 78081615
74GAANM_ 000152.4(GAA): c.546G> T (p.Thr182=)SNVLikely pathogenicrs143523371GRCh37Chr 17, 78078931: 78078931
75GAANM_ 000152.4(GAA): c.2242delG (p.Glu748Argfs)deletionLikely pathogenicrs1057516649GRCh37Chr 17, 78090819: 78090819
76GAANM_ 000152.4(GAA): c.2242dupG (p.Glu748Glyfs)duplicationLikely pathogenicrs1057516659GRCh37Chr 17, 78090819: 78090819
77GAANM_ 000152.4(GAA): c.2495_ 2496delCA (p.Thr832Asnfs)deletionLikely pathogenicrs1057516704GRCh38Chr 17, 80118206: 80118207
78GAANM_ 000152.4(GAA): c.1099delT (p.Trp367Glyfs)deletionLikely pathogenicrs1057516785GRCh37Chr 17, 78082311: 78082311
79GAANM_ 000152.4(GAA): c.1824_ 1828dupATACG (p.Ala610Aspfs)duplicationLikely pathogenicrs1057516826GRCh38Chr 17, 80112647: 80112651
80GAANM_ 000152.4(GAA): c.2238G> A (p.Trp746Ter)SNVLikely pathogenicrs1800312GRCh37Chr 17, 78090815: 78090815
81GAANM_ 000152.4(GAA): c.2281delGinsAT (p.Ala761Ilefs)indelLikely pathogenicrs1057516924GRCh37Chr 17, 78090858: 78090858
82GAANM_ 000152.4(GAA): c.2040+1G> TSNVLikely pathogenicrs1057516928GRCh37Chr 17, 78086827: 78086827
83GAANM_ 000152.4(GAA): c.2015G> A (p.Arg672Gln)SNVLikely pathogenicrs778418246GRCh37Chr 17, 78086801: 78086801
84GAANM_ 000152.4(GAA): c.1832G> A (p.Gly611Asp)SNVLikely pathogenicrs1057517105GRCh37Chr 17, 78086454: 78086454
85GAANM_ 000152.4(GAA): c.1222A> G (p.Met408Val)SNVLikely pathogenicrs560575383GRCh37Chr 17, 78082523: 78082523
86GAANM_ 000152.4(GAA): c.1564C> G (p.Pro522Ala)SNVLikely pathogenicrs892129065GRCh37Chr 17, 78084752: 78084752
87GAANM_ 000152.4(GAA): c.2331+2T> ASNVPathogenicrs1057517148GRCh37Chr 17, 78090910: 78090910
88GAANM_ 000152.4(GAA): c.236_ 246delCCACACAGTGC (p.Pro79Argfs)deletionPathogenicrs1057517165GRCh37Chr 17, 78078621: 78078631
89GAANM_ 000152.4(GAA): c.1316T> A (p.Met439Lys)SNVLikely pathogenicrs747610090GRCh37Chr 17, 78082617: 78082617
90GAANM_ 000152.4(GAA): c.1567delT (p.Ser523Profs)deletionLikely pathogenicrs1057517267GRCh37Chr 17, 78084755: 78084755
91GAANM_ 000152.4(GAA): c.1193delT (p.Leu398Argfs)deletionLikely pathogenicrs1057517286GRCh37Chr 17, 78082405: 78082405
92GAANM_ 000152.4(GAA): c.2815_ 2816delGT (p.Val939Leufs)deletionPathogenicrs1057517308GRCh37Chr 17, 78093086: 78093087
93GAANM_ 000152.4(GAA): c.471delC (p.Thr158Profs)deletionLikely pathogenicrs1057517320GRCh38Chr 17, 80105057: 80105057
94GAANM_ 000152.4(GAA): c.393delC (p.Ser132Alafs)deletionLikely pathogenicrs1057517381GRCh37Chr 17, 78078778: 78078778
95GAANM_ 000152.4(GAA): c.-32-3C> ASNVLikely pathogenicrs1055945806GRCh38Chr 17, 80104552: 80104552
96GAANM_ 000152.4(GAA): c.1561G> A (p.Glu521Lys)SNVPathogenic/ Likely pathogenicrs121907937GRCh37Chr 17, 78084749: 78084749
97GAANM_ 000152.4(GAA): c.1927G> A (p.Gly643Arg)SNVPathogenicrs28937909GRCh37Chr 17, 78086713: 78086713
98GAANM_ 000152.4(GAA): c.2173C> T (p.Arg725Trp)SNVPathogenic/ Likely pathogenicrs121907938GRCh37Chr 17, 78087149: 78087149
99GAANM_ 000152.4(GAA): c.-32-13T> GSNVPathogenicrs386834236GRCh37Chr 17, 78078341: 78078341
100GAANM_ 000152.4(GAA): c.1935C> A (p.Asp645Glu)SNVPathogenicrs28940868GRCh37Chr 17, 78086721: 78086721
101GAANM_ 000152.4(GAA): c.2482_ 2646del165 (p.Gly828_ Asn882del)deletionPathogenicGRCh37Chr 17, 78091992: 78092156
102GAANM_ 000152.4(GAA): c.525delT (p.Glu176Argfs)deletionPathogenicrs386834235GRCh37Chr 17, 78078910: 78078910
103GAANM_ 000152.4(GAA): c.2560C> T (p.Arg854Ter)SNVPathogenicrs121907943GRCh37Chr 17, 78092070: 78092070
104GAAGAA, IVS1AS, G-C, -1SNVPathogenic
105GAANM_ 000152.4(GAA): c.1082C> T (p.Pro361Leu)SNVPathogenicrs755253527GRCh38Chr 17, 80108495: 80108495
106GAANM_ 000152.4(GAA): c.1465G> A (p.Asp489Asn)SNVPathogenicrs398123169GRCh37Chr 17, 78084553: 78084553
107GAANM_ 000152.4(GAA): c.2012T> G (p.Met671Arg)SNVPathogenicrs398123170GRCh37Chr 17, 78086798: 78086798
108GAANM_ 000152.4(GAA): c.2066_ 2070dupAGCCG (p.Ala691Serfs)duplicationPathogenicrs398123171GRCh37Chr 17, 78087042: 78087046
109GAANM_ 000152.4(GAA): c.2105G> T (p.Arg702Leu)SNVLikely pathogenicrs398123172GRCh37Chr 17, 78087081: 78087081
110GAANM_ 000152.4(GAA): c.2512C> T (p.Gln838Ter)SNVPathogenicrs369532274GRCh37Chr 17, 78092022: 78092022
111GAANM_ 000152.4(GAA): c.2544delC (p.Lys849Argfs)deletionPathogenicrs398123173GRCh37Chr 17, 78092054: 78092054
112GAANM_ 000152.4(GAA): c.307T> G (p.Cys103Gly)SNVPathogenicrs398123174GRCh37Chr 17, 78078692: 78078692

Expression for genes affiliated with Glycogen Storage Disease Ii

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Search GEO for disease gene expression data for Glycogen Storage Disease Ii.

Pathways for genes affiliated with Glycogen Storage Disease Ii

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GO Terms for genes affiliated with Glycogen Storage Disease Ii

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Cellular components related to Glycogen Storage Disease Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1azurophil granule membraneGO:003557710.6GAA, LAMP2
2ficolin-1-rich granule membraneGO:010100310.5GAA, LAMP2
3lysosomal lumenGO:004320210.0GAA, GYG1, LAMP2
4lysosomal membraneGO:00057659.9GAA, IGF2R, LAMP2
5lysosomeGO:00057649.3GAA, IGF2R, LAMP2
6extracellular exosomeGO:00700627.6DNASE1L1, GAA, GANAB, GYG1, IGF2R, LAMP2

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

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:006004810.4DMD, GAA
2glycogen metabolic processGO:000597710.0GAA, PRKAG2, PYGM
3muscle cell cellular homeostasisGO:004671610.0DMD, GAA, LAMP2
4glycogen catabolic processGO:00059809.9GAA, GYG1, PYGM
5carbohydrate metabolic processGO:00059759.8GAA, GANAB, PYGM
6neutrophil degranulationGO:00433127.9DNASE1L1, GAA, GYG1, IGF2R, LAMP2

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

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.5GAA, GANAB
2catalytic activityGO:00038249.5GAA, GANAB, PYGM

Sources for Glycogen Storage Disease Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet