Glycogen Storage Disease malady

Disease Ontology: A carbohydrate metabolic disease that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.⁶

MalaCards: Glycogen Storage Disease, also known as glycogenosis, is related to glycogen storage disease type 1a and glycogen storage disease type ia. An important gene associated with Glycogen Storage Disease is G6PC (glucose-6-phosphatase, catalytic subunit), and among its related pathways are Glycogen metabolism and Glycogen metabolism. The compounds amylose and carbohydrates have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, heart and skeletal muscle, and related mouse phenotypes are hematopoietic system and liver/biliary system.

NINDS: 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.³¹

Wikipedia: Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the...⁴⁴ more...

Aliases & Descriptions:

glycogen storage disease 6 7 17 31 8 32 43 glycogenosis 6 7

glycogenoses 6

Disease types for glycogen storage disease family:

glycogen storage disease vii	glycogen storage disease i
glycogen storage disease iii	glycogen storage disease v
glycogen storage disease vi	glycogen storage disease viii
glycogen storage disease iv	glycogen storage disease ii
glycogen storage disease ix	glycogen storage disease xv
glycogen storage disease ib	glycogen storage disease ic
glycogen storage disease iib	glycogen storage disease iiia
glycogen storage disease iiib	glycogen storage disease type 0
glycogen storage disease type 12	glycogen storage disease type 13
glycogen storage disease type 14	glycogen storage disease type 1a
glycogen storage disease type 1b	glycogen storage disease type ia

Diseases related to glycogen storage disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 559)

id	Related Disease	Score	Top Affiliating Genes
1	glycogen storage disease type 1a	38.2	FBP2, APOA5, G6PC
2	glycogen storage disease type ia	37.9	VWF, BTD, LPL, SCARB1, IL8, APOA4
3	glycogen storage disease type 1b	37.5	FXYD2, G6PC, CSF3, SLC37A4
4	glycogen storage disease v	37.3	BPGM, AMPD1, PYGB, PYGM, PRMT6, CPT2
5	glycogen storage disease i	37.1	LPL, PHKA2, G6PC, SLC37A4, NEK3
6	glycogen storage disease iii	37.0	G6PC, AGL, GAA
7	glycogen storage disease ii	36.9	LAMP2, MGAM, IGF2R, PYGM, DMD, PRKAG2
8	glycogen storage disease iv	36.6	G6PC, CPT2, GBE1, GAA
9	glycogen storage disease type 0	36.4	GYG2, GYS1, GYS2, AGL
10	glycogen storage disease vii	35.9	PYGM, PFKM, GBE1
11	danon disease	35.7	VMA21, LAMP2, MPP2, GLA, DMD, PRKAG2
12	hepatitis	34.5	RBP4, F2, ALB, TF, PON1, HGF
13	fanconi-bickel syndrome	34.3	F2, G6PC, SLC2A2
14	neutropenia	33.1	CLIC1, ITGAM, IL8, F3, ALB, HNF1A
15	muscle glycogenosis	31.1	PYGM, PHKA1, PHKA2, PHKB, PHKG1, PGM1
16	hypotonia	30.5	BTD, DMD, PHKG2, DPAGT1, SOD1, GBE1
17	phenylketonuria	30.3	BTD, PAH, OTC, TTR
18	hypoglycemia	29.9	GCG, BTD, LPL, CHKB, CDKN3, GYG2
19	hypertrophic cardiomyopathy	29.4	VWF, CHKB, LAMP2, MPP2, INS, IGF2
20	gaucher's disease	29.2	MTHFR, LAMP2, F2, CAT, GLA, GBA
21	myopathy	28.8	BTD, VMA21, CKM, CHKB, LAMP2, MPP2
22	fanconi syndrome	28.7	NAGLU, IGF2R, ALB, HNF1A, PHKA2, TF
23	liver cirrhosis	28.5	GCG, RBP4, F3, F2, ALB, OTC
24	hyperinsulinism	28.3	GCG, LPL, INS, IGF2, IGF1, HNF1A
25	lysosomal storage disease	28.2	NAGLU, LAMP2, GLA, GBA, GAA
26	retinol binding protein	27.8	RBP4, NAGLU, CKM, INS, ALB, HNF1A
27	myositis	26.9	CKM, CHKB, INS, IL8, PYGM, DMD
28	cramps	26.8	INS, AMPD1, ALB, GLA, PYGM, DMD
29	adenoma	26.1	GCG, BMP6, BMPR2, SCARB1, MTHFR, INS
30	myeloid leukemia	26.1	VWF, BMP6, MTHFR, CDKN3, ITGAM, IL8
31	cholesterol	23.7	VWF, RBP4, NAGLU, LPL, BMP6, SCARB1
32	hypertension	23.5	VWF, RBP4, NAGLU, LPL, BMP6, BMPR2
33	anorexia nervosa	23.4	GCG, LPL, PAH, CHKB, INS, IGF2
34	atherosclerosis	22.1	VWF, GCG, RBP4, LPL, BMP6, SCARB1
35	leukemia	21.7	VWF, BTD, RBP4, LPL, BMP6, BMPR2
36	hepatocellular carcinoma	20.5	VWF, BTD, RBP4, BMP6, CLIC1, PAH
37	carcinoma	18.4	VWF, GCG, BTD, RBP4, NAGLU, LPL
38	fructose-1,6-bisphosphatase deficiency	14.0	PYGB, PYGL, G6PC, G6PC3
39	vacuolar myopathy	13.9	VMA21, LAMP2, MPP2, DMD, GAA
40	myoglobinuria recurrent	13.9	PYGM, DMD, CPT2
41	familial hypercholesterolemia	13.8	LPL, APOA4, OTC, PON1
42	meningitis and encephalitis	13.8	CAT, CRP, SOD1
43	hypermethioninemia	13.7	GNMT, CAT, AHCY, SOD1
44	protein s deficiency	13.7	LAMP2, DMD, CPT2, GAA
45	myelokathexis	13.7	G6PC3, CSF2, CSF3
46	aortic atherosclerosis	13.7	LPL, SCARB1, GLA, CRP
47	galactosemia	13.7	BTD, OTC, SLC2A2
48	creatine phosphokinase	13.7	CKM, CHKB, ENO3, SOD1
49	rhabdomyolysis, cerivastatin-induced	13.7	CKM, CHKB, LDHA, AMPD1, ALDOA, PYGM
50	leukemoid reaction	13.6	CRP, CSF2, CSF3

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to glycogen storage disease:

²²

id	Organ / Tissue -> Anatomical Compartment -> Cell	Relevance
1	Liver -> Liver Lobule -> Hepatocytes	Potential therapeutic candidate, affected by disease

MGI Mouse Phenotypes related to glycogen storage disease:

²⁵ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.5	CSF2, CSF3, POU1F1, SLC37A4, HGF, G6PC2
2	liver/biliary system phenotype	MP:0005370	9.4	DMD, OTC, SOD1, GBA, GBE1, HNF1A
3	renal/urinary system phenotype	MP:0005367	8.6	OTC, G6PC, PRKAA2, SLC37A4, ROBO2, DMD
4	muscle phenotype	MP:0005369	8.3	F3, HNF1A, DMD, PHKA1, PFKM, PRKAA2
5	immune system phenotype	MP:0005387	8.0	OTC, PFKM, G6PC2, G6PC3, CSF2, POU1F1
6	behavior/neurological phenotype	MP:0005386	7.8	OTC, G6PC, G6PC2, DNASE1L1, PRKAA2, CSF2
7	skeleton phenotype	MP:0005390	7.4	HNF1A, DMD, CSF2, SLC37A4, GBA, GAA
8	growth/size phenotype	MP:0005378	7.1	DMD, OTC, G6PC, G6PC3, PRKAA2, CSF2
9	cardiovascular system phenotype	MP:0005385	6.3	CRP, DMD, GNMT, F2, F3, PFKM
10	mortality/aging	MP:0010768	5.7	TF, DPAGT1, G6PC3, G6PC, PFKM, PFKFB3
11	cellular phenotype	MP:0005384	5.1	SOD1, PRKAA2, G6PC2, OTC, DMD, HNF1A
12	homeostasis/metabolism phenotype	MP:0005376	3.6	GAA, G6PC, PFKM, PHKA1, CRP, OTC

Articles related to glycogen storage disease:

(show top 50)    (show all 316)

id	Title	Authors	Year	Affiliating Genes
1	Targeted deletion of liver glucose-6 phosphatase mimi cs glycogen storage disease type 1a including development of multiple adenomas. (21109326)	Mutel E.... Rajas F.	2011	G6PC
2	A potential role for muscle in glucose homeostasis: i n vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bis phosphatase deficiency. (20127282)	Huidekoper H.H.... Wijburg F.A.	2010	FBP2
3	The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and ins ulin-like growth factor levels in patients with glycogen storage disease type 1 a and 1b. (20022338)	Melis D.... Andria G.	2010	IGF1, IGF2
4	Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. (20389290)	Yiu W.H.... Chou J.Y.	2010	G6PC
5	Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. (20479904)	Ban H.R.... Chung K.S.	2009	GBE1
6	A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III. (19073362)	Kalkan Ucar S.... Darcan S.	2009	SOD1, CAT, CRP
7	Egyptian glycogen storage disease type III - identifi cation of six novel AGL mutations, including a large 1.5 kb deletion and a miss ense mutation p.L620P with subtype IIId. (19754354)	Endo Y.... Okubo M.	2009	AGL
8	Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. (19299494)	Cheng A.... Saltiel A.R.	2009	AGL
9	Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. (18420828)	Kim S.Y.... Chou J.Y.	2008	G6PC
10	Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia. (18191274)	Kim S.Y.... Chou J.Y.	2008	IL8, CXCL2
11	Perioperative management of benign hepatic tumors in patients with glycogen storage disease type Ia. (18392715)	Oshita A.... Asahara T.	2008	G6PC
12	AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. (18362924)	Koeberl D.D.... Chen Y.T.	2008	HGF, G6PC
13	A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report. (18826620)	Schroeder T.... Haas R.	2008	CSF3
14	Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis. (18008183)	Barkaoui E.... Ben Dridi M.F.	2007	G6PC
15	Specific reduction of hepatic glucose 6-phosphate transporter-1 ameliorates diabetes while avoiding complications of glycogen storage disease. (17478431)	Sloop K.W.... Michael M.D.	2007	SLC37A4
16	A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. (17257876)	Fyfe J.C.... Henthorn P.S.	2007	GBE1
17	Gene therapy for type I glycogen storage diseases. (17430128)	Chou J.Y.... Mansfield B.C.	2007	G6PC, SLC37A4
18	Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. (17928598)	Kollberg G.... Holme E.	2007	GYS1
19	Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. (17047887)	Endo Y.... Okubo M.	2006	AGL
20	Two clinical forms of glycogen-storage disease type II in two generations of the same family. (16433701)	Amartino H.... Chamoles N.	2006	GAA
21	Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. (15906092)	Melis D.... Benedetti A.	2005	SLC37A4
22	Amelioration of neutrophil membrane function underlies granulocyte-colony stimulating factor action in glycogen storage disease 1b. (15888252)	Lesma E.... Gorio A.	2005	CSF3, SLC37A4
23	Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib. (15260472)	Almqvist J.... Wang D.N.	2004	G6PC, SLC37A4, SLC37A1
24	Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene. (12601120)	Lam C.W.... Martiniuk F.	2003	GAA
25	Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. (12923862)	Pittis M.G.... Bembi B.	2003	GAA
26	Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (12409273)	Yuen Y.-P.... Lam C.-W.	2002	SLC37A4
27	Disturbed lipid metabolism in glycogen storage disease type 1. (12373575)	Bandsma R.H.... Kuipers F.	2002	G6PC
28	Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice. (12189168)	Sun M.S.... Chou J.Y.	2002	G6PC
29	Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a. (12373573)	Chou J.Y.... Pan C.J.	2002	G6PC
30	Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. (12373578)	Visser G.... Smit G.P.	2002	CSF3
31	Molecular genetics of type 1 glycogen storage disease. (11386847)	Janecke A.R.... Utermann G.	2001	G6PC
32	Crohn-like enteritis presenting as hypoglycemia in a patient with glycogen storage disease type 1b, treated with granulocyte colony-stimulating factor and splenectomy. (11321392)	Barker C.C.... Parsons H.G.	2001	CSF3
33	The molecular basis of type 1 glycogen storage diseases. (11899241)	Chou J.Y.	2001	G6PC, SLC37A4
34	Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease) (11596390)	Yamasaki T.... Nakajima H.	2001	PFKM
35	Identification of a novel missense mutation (T16A) in the glucose-6- phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease). (10738005)	Wu M.-C.... Wu J.-Y.	2000	G6PC
36	Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (10518030)	Galli L.... Sorrentino V.	1999	G6PC, SLC37A4
37	Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (10070617)	Stroppiano M.... Gatti R.	1999	G6PC
38	Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. (10598822)	Lin B.... Chou J.Y.	1999	G6PC, SLC37A4
39	Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. (10545593)	Bijvoet A.G.... Reuser A.J.	1999	GAA
40	Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. (9630072)	Lam C.W.... Hjelm N.M.	1998	G6PC
41	Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. (9536091)	Chang S.... Biesecker L.G.	1998	PYGL
42	A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (8702417)	Okubo M.... Murase T.	1996	AGL
43	Bone mineralisation in type 1 glycogen storage disease. (7545579)	Lee P.J.... Bishop N.J.	1995	CSF3
44	Oral manifestations in glycogen storage disease type 1b. (7776266)	Salapata Y.... Messaritakis J.	1995	G6PC
45	Adenovirus-mediated delivery into myocytes of muscle glycogen phosphorylase, the enzyme deficient in patients with glycogen-storage disease type V. (7818463)	Baque S.... Gomez-Foix A.M.	1994	PYGM
46	Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. (8256296)	Willemsen R.... Reuser A.J.	1993	GAA
47	Glucose-6-phosphatase and type 1 glycogen storage disease: some critical considerations. (8391448)	Arion W.J.... Canfield W.K.	1993	G6PC
48	Glycogen Storage Disease Type V (20301518)	Arenas J.... Andreu A.L.	1993	PYGM
49	Unreliability of platelet glucose-6-phosphatase for the diagnosis of glycogen storage disease type Ia. (8295399)	Goldberg J.D.... Golbus M.S.	1993	G6PC
50	Evaluation of the lumbar spine in patients with glycogen storage disease: CT demonstration of patterns of paraspinal muscle atrophy. (1837202)	Cinnamon J.... Hyman R.A.	1991	GAA

Genes related to glycogen storage disease according to GeneCards:

(show top 50)    (show all 105)

id	Symbol	Description	Score	GeneCards Section Context
1	G6PC	glucose-6-phosphatase, catalytic subunit	11.1	Publications, Aliases & Descriptions, Summaries
2	SLC37A4	solute carrier family 37 (glucose-6-phosphate transporter), member 4	11.1	Summaries, Publications
3	GAA	glucosidase, alpha; acid	11.1	Summaries, Orthologs, Publications
4	PHKA2	phosphorylase kinase, alpha 2 (liver)	11.1	Publications, Summaries
5	AGL	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	11.1	Publications, Summaries, Orthologs
6	PYGL	phosphorylase, glycogen, liver	11.1	Publications, Summaries
7	PYGM	phosphorylase, glycogen, muscle	11.1	Publications, Summaries
8	GBE1	glucan (1,4-alpha-), branching enzyme 1	11.1	Publications, Summaries
9	PHKG2	phosphorylase kinase, gamma 2 (testis)	11.1	Summaries, Publications
10	GYS2	glycogen synthase 2 (liver)	11.1	Publications, Summaries
11	ENO3	enolase 3 (beta, muscle)	11.1	Summaries
12	GYS1	glycogen synthase 1 (muscle)	11.1	Publications, Summaries
13	PGM1	phosphoglucomutase 1	11.1	Summaries
14	PGAM2	phosphoglycerate mutase 2 (muscle)	11.1	Summaries
15	GYG1	glycogenin 1	11.1	Summaries
16	PHKB	phosphorylase kinase, beta	11.1	Summaries, Orthologs, Publications
17	PFKM	phosphofructokinase, muscle	11.1	Summaries, Publications
18	PHKA1	phosphorylase kinase, alpha 1 (muscle)	11.1	Summaries
19	CPT2	carnitine palmitoyltransferase 2	11.0
20	PRKAG2	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	11.0	Publications
21	NEK3	NIMA (never in mitosis gene a)-related kinase 3	11.0	Publications
22	LAMP2	lysosomal-associated membrane protein 2	11.0	Publications
23	ALDOA	aldolase A, fructose-bisphosphate	11.0	Publications
24	BTD	biotinidase	11.0	Publications
25	CSF3	colony stimulating factor 3 (granulocyte)	11.0	Publications
26	LPL	lipoprotein lipase	11.0	Publications
27	FXYD2	FXYD domain containing ion transport regulator 2	11.0	Publications
28	G6PC3	glucose 6 phosphatase, catalytic, 3	11.0	Publications
29	PRMT6	protein arginine methyltransferase 6	11.0
30	VMA21	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	11.0
31	DNASE1L1	deoxyribonuclease I-like 1	11.0
32	G6PC2	glucose-6-phosphatase, catalytic, 2	11.0	Publications
33	SLC17A3	solute carrier family 17 (sodium phosphate), member 3	11.0	Publications
34	CXCL2	chemokine (C-X-C motif) ligand 2	11.0	Publications
35	GYG2	glycogenin 2	11.0	Publications
36	FBP2	fructose-1,6-bisphosphatase 2	11.0	Publications
37	LDHA	lactate dehydrogenase A	11.0
38	APOA5	apolipoprotein A-V	11.0
39	APOA4	apolipoprotein A-IV	11.0	Publications
40	AMPD1	adenosine monophosphate deaminase 1	11.0
41	PYGB	phosphorylase, glycogen; brain	11.0
42	MGAM	maltase-glucoamylase (alpha-glucosidase)	11.0	Publications
43	MPP2	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	11.0	Publications
44	SI	sucrase-isomaltase (alpha-glucosidase)	11.0	Orthologs
45	SCARB1	scavenger receptor class B, member 1	11.0	Publications
46	SLC2A2	solute carrier family 2 (facilitated glucose transporter), member 2	11.0
47	FAAH2	fatty acid amide hydrolase 2	11.0
48	HNF1A	HNF1 homeobox A	11.0	Publications
49	PFKP	phosphofructokinase, platelet	11.0
50	HGF	hepatocyte growth factor (hepapoietin A; scatter factor)	11.0	Publications

Pathways related to glycogen storage disease according to GeneDecks:

(show all 31)

id	Pathway	Score	Top Affiliating Genes
1	Glycogen metabolism41	10.8	GYS2, PYGB, PYGL, PYGM, AGL, PGM1
2	Glycogen metabolism10	10.8	GBE1, GYS1, GYS2, PYGB, PYGL, PYGM
3	Glucose transport38	10.6	SLC37A4, SLC2A2, G6PC3, G6PC2, G6PC
4	Glucose metabolism38	10.6	PYGM, PHKA1, PHKA2, PHKB, PHKG1, PHKG2
5	Galactose metabolism41	10.6	PGM1, GYS1, GYS2, GLA, PYGB, PYGL
6	Galactose metabolism10	10.6	PGM1, G6PC, PYGM, PYGL, PYGB, GLA
7	Alpha-Adrenergic Signaling36	10.6	PHKG2, PHKG1, PHKB, PHKA2, PHKA1, GYS2
8	Carbohydrate digestion and absorption20	10.6	SI, SLC37A4, SLC2A2, G6PC2, G6PC, MGAM
9	Pentose phosphate pathway20	10.6	PGM1, PFKP, PFKM, ALDOA, FBP2
10	Starch and sucrose metabolism20	10.5	G6PC2, AGL, PGM1, SI, GBE1, GANC
11	PKA Signaling36	10.4	PHKG2, PHKG1, PHKB, PHKA2, PHKA1, CRP
12	Fructose and mannose metabolism20	10.4	PFKP, PFKM, PFKFB3, ALDOA, FBP2
13	Galactose metabolism20	10.4	GAA, GANC, G6PC2, G6PC, PFKP, PFKM
14	Statin Pathway, Pharmacodynamics34	10.3	APOA5, APOA4, SCARB1, LPL
15	Glycolysis and gluconeogenesis (short map)10	10.0	PGAM1, PGAM2, SLC37A4, G6PC, PFKP, BPGM
16	Glycolysis and gluconeogenesis (short map)41	10.0	BPGM, FBP2, ENO3, ALDOA, PKM, PFKM
17	Insulin signaling pathway20	10.0	PHKG1, PHKG2, G6PC, G6PC2, PRKAA2, PRKAG2
18	Glycolysis38	10.0	ALDOA, PKM, PFKFB3, PFKM, PFKP, PGAM1
19	MIF Mediated Glucocorticoid Regulation36	10.0	HGF, CSF3, CSF2, CXCL2, IL8, BMP6
20	Glycolysis / Gluconeogenesis20	9.9	BPGM, LDHA, FBP2, ENO3, ALDOA, PKM
21	AMPK Enzyme Complex Pathway36	9.8	PFKP, PRKAA2, PRKAG2, CPT2, PFKM, PFKFB3
22	Akt Signaling36	9.8	HGF, CSF2, PFKP, PFKM, PFKFB3, GYS2
23	Selected targets of HNF110	9.6	SLC2A2, CRP, HNF1A, ALB, INS
24	Lysosome20	9.6	GBA, GLA, IGF2R, LAMP2, NAGLU, GAA
25	Activation of PKA through GPCR36	9.1	HGF, CRP, PYGM, PYGL, PYGB, IGF1
26	Activation of cAMP-Dependent PKA36	9.0	CRP, PHKA1, PHKA2, PHKB, PHKG1, PHKG2
27	Glucose / Energy Metabolism3	8.9	PGAM1, PRKAG2, PRKAA2, PFKP, PFKFB3, PKM
28	cAMP Pathway36	8.9	PYGM, CRP, PHKA1, PHKA2, PHKB, PHKG1
29	PAK Pathway36	8.7	HGF, CSF3, CSF2, CXCL2, IGF1, IGF2
30	Antioxidant Action of Vitamin-C36	8.6	HGF, SLC2A2, CSF3, CSF2, CXCL2, IGF1
31	Metabolic pathways20	7.6	BTD, PKM, PFKM, PFKP, G6PC, G6PC2

Compounds related to glycogen storage disease according to GeneDecks:

(show top 50)    (show all 206)

id	Compound	Score	Top Affiliating Genes
1	amylose32 18	11.7	PYGL, AGL, PYGB, PYGM, GYS1, GYS2
2	carbohydrates32	10.3	SI, MGAM, SCARB1, TF
3	glucose 6-phosphate32 18	11.2	PYGB, CAT, MGAM, GYS2, GYS1, CHKB
4	1-deoxynojirimycin32 42 9 9	13.2	LPL, GAA, GANC, GANAB, GBA, SI
5	malondialdehyde32	10.0	NAGLU, CKM, CHKB, CAT, CRP, SI
6	citrate32	10.0	NAGLU, CHKB, CDKN3, CAT, CPT2, PFKFB3
7	acarbose32 42 9 9	12.5	SHBG, GCG, INS, MGAM, SI, GANAB
8	fructose32 9 9	11.5	MGAM, NAGLU, ALDOA, GCG, FBP2, PKM
9	betacarotene32	9.4	TTR, MTHFR, SCARB1, LPL, RBP4, VWF
10	ascorbic acid32 18	10.3	TTR, RBP4, CHKB, IGF2, ITGAM, DPAGT1
11	mannitol32 9 9	11.2	SLC2A2, SOD1, G6PC, CDKN3, GLA, NAGLU
12	carnitine32	9.2	PFKM, CRP, OTC, PYGM, AMPD1, IGF2
13	fatty acid32	9.2	HLCS, GAA, SI, CPT2, PRKAA2, G6PC
14	pyruvate32	9.1	PYGM, OTC, PKM, PHKA2, PFKM, G6PC
15	vitamin a32 9 18 9	12.1	SCARB1, APOA4, HGF, SOD1, RBP4, NAGLU
16	starch32	9.0	GBE1, SI, TF, AHCY, AGL, IGF1
17	polysaccharide32	8.9	SI, HGF, GBA, GBE1, BMP6, LPL
18	glucose32	8.8	GCG, BTD, CKM, LDHA, OTC, PKM
19	mannose 6-phosphate32 18	9.8	GBA, GAA, G6PC, GLA, IGF1, IGF2
20	aspartate32	8.8	PAH, F2, GLA, OTC, SHBG, G6PC
21	glycerol32 9 18 9	11.8	OTC, SHBG, G6PC, TTR, PRKAA2, DMD
22	leucine32	8.7	HLCS, GLA, HNF1A, DMD, OTC, G6PC
23	uric acid32 18	9.6	SLC37A4, SOD1, TTR, G6PC, CRP, PON1
24	prednisolone32 9 9	10.6	IGF2, TF, CSF3, HGF, CRP, DMD
25	simvastatin32 34 42 9 18 9	13.5	ITGAM, CRP, F2, F3, SHBG, IL8
26	fibrinogen32	8.4	CRP, CXCL2, PON1, TF, HNF1A, CHKB
27	folate32	8.3	AHCY, TTR, RBP4, VWF, PON1, HGF
28	methotrexate32 34 42 9 9	12.2	GAA, CSF3, BMP6, GBA, HGF, SI
29	hydrocortisone32 9 9	10.0	BMP6, HGF, IGF1, INS, MGAM, IGF2
30	aspirin32 34 18	10.0	VWF, BMP6, ITGAM, SCARB1, MTHFR, HGF
31	adenylate32	8.0	DMD, PYGB, ALDOA, AMPD1, IGF2, FBP2
32	homocysteine32 18	8.9	CRP, ALB, F2, F3, MTHFR, TTR
33	glutamate32	7.9	CDKN3, FTCD, MPP2, BMP6, GCG, INS
34	alpha tocopherol32	7.7	SCARB1, LPL, RBP4, CKM, CHKB, PON1
35	heparin32 9 18 9	10.7	APOA5, GCG, LPL, CHKB, APOA4, ITGAM
36	thyroxine32 18	8.6	IGF1, VWF, PON1, TF, TTR, SHBG
37	glycogen32 18	8.6	GCG, BTD, PAH, CKM, CHKB, LAMP2
38	epinephrine32 9 18 9	10.4	INS, F3, F2, SHBG, PAH, TTR
39	lipid32	7.2	GCG, RBP4, NAGLU, LPL, BMPR2, CLIC1
40	vitamin d32	7.1	ALB, IGF2, ITGAM, CHKB, MTHFR, PAH
41	cysteine32	7.1	GCG, BTD, PKM, CSF2, SI, GBA
42	glutamine32	7.0	PON1, CSF2, TF, TTR, POU1F1, SI
43	creatinine32	6.9	CRP, OTC, NAGLU, RBP4, GCG, VWF
44	arginine32	6.8	G6PC, AHCY, TTR, PRMT6, SOD1, PON1
45	vegf32	6.7	PFKFB3, CRP, VWF, TF, PRKAA2, CXCL2
46	cholesterol32 9 18 9	9.6	RBP4, HNF1A, CRP, SHBG, G6PC, TTR
47	estrogen32	5.3	SHBG, TTR, HGF, GCG, RBP4, LPL
48	alanine32	4.8	BMP6, PFKM, SHBG, G6PC, TTR, TF
49	lactate32	4.5	VWF, GCG, BTD, AMPD1, F2, ALB
50	serine32	4.3	BMP6, BMPR2, CKM, PKM, RBP4, DMD

Cellular components related to glycogen storage disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylase kinase complex	GO:005964	10.3	PHKG2, PHKG1, PHKB, PHKA2, PHKA1
2	platelet alpha granule lumen	GO:031093	9.3	ALDOA, ALB, IGF1, VWF, HGF
3	cytosol	GO:005829	7.6	HLCS, PHKA2, PHKB, PHKG1, PHKG2, PFKFB3
4	extracellular space	GO:005615	6.0	F2, ALB, CRP, TTR, CXCL2, SOD1
5	extracellular region	GO:005576	5.5	GLA, CRP, SHBG, TTR, TF, CXCL2

Biological processes related to glycogen storage disease according to GeneDecks:

(show all 24)

id	Name	GO ID	Score	Top Affiliating Genes
1	generation of precursor metabolites and energy	GO:006091	10.7	GBE1, PHKG2, PHKB, PHKA2, PHKA1, GYS2
2	glucose-6-phosphate transport	GO:015760	10.7	SLC37A4, SLC17A3, G6PC3, G6PC
3	glycogen metabolic process	GO:005977	10.7	GBE1, PRKAG2, G6PC, PHKG2, PHKB, PHKA1
4	glycogen biosynthetic process	GO:005978	10.7	GYG1, GYG2, GYS1, GYS2, PHKG1, PHKG2
5	glycogen catabolic process	GO:005980	10.6	PHKB, PHKG1, PHKG2, G6PC, AGL, PGM1
6	muscle cell homeostasis	GO:046716	10.6	ALDOA, PFKM, SOD1, GAA
7	hexose transport	GO:008645	10.5	SLC37A4, SLC2A2, G6PC3, G6PC2, G6PC
8	gluconeogenesis	GO:006094	10.4	PGAM2, PGAM1, G6PC3, G6PC2, G6PC, ALDOA
9	carnitine shuttle	GO:006853	10.3	CPT2, PRKAG2, PRKAA2
10	triglyceride metabolic process	GO:006641	10.3	G6PC, CAT, APOA5, LPL
11	glucose transport	GO:015758	10.2	SLC37A4, SLC2A2, G6PC3, G6PC2, G6PC, INS
12	lipoprotein metabolic process	GO:042157	10.2	ALB, APOA5, APOA4, SCARB1, LPL
13	fructose metabolic process	GO:006000	10.0	FBP2, ALDOA, PFKFB3
14	glucose homeostasis	GO:042593	9.9	SLC37A4, PRKAA2, G6PC2, G6PC, PYGL, HNF1A
15	glycolysis	GO:006096	9.8	PGAM2, PGAM1, PFKP, PFKM, PFKFB3, PKM
16	transmembrane transport	GO:055085	9.5	SLC37A4, SLC2A2, SLC37A3, SLC37A1, SLC37A2, TF
17	platelet degranulation	GO:002576	9.3	HGF, SOD1, TF, ALDOA, ALB, IGF1
18	positive regulation of glycolysis	GO:045821	9.2	INS, IGF1, PRKAA2
19	carbohydrate metabolic process	GO:005975	8.9	PHKB, GANC, GBE1, GBA, PHKG1, PHKG2
20	glucose metabolic process	GO:006006	8.9	GYG1, GYG2, GYS1, GYS2, INS, FBP2
21	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	8.6	INS, IGF1, F2, CAT, HGF
22	platelet activation	GO:030168	8.5	HGF, SOD1, TF, ALDOA, ALB, F2
23	blood coagulation	GO:007596	7.8	ALDOA, TF, SOD1, HGF, ALB, F2
24	small molecule metabolic process	GO:044281	6.3	GCG, ENO3, AMPD1, ALB, ALDOA, CAT

Molecular functions related to glycogen storage disease according to GeneDecks:

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:004553	10.7	GBE1, PHKB, PHKA2, PHKA1
2	glycogen phosphorylase activity	GO:008184	10.7	PYGM, PYGL, PYGB
3	phosphorylase kinase activity	GO:004689	10.7	PHKA1, PHKA2, PHKB, PHKG1, PHKG2
4	glucose-6-phosphatase activity	GO:004346	10.7	G6PC3, G6PC2, G6PC
5	glucose binding	GO:005536	10.6	PYGL, GYS1, GYG1
6	maltose alpha-glucosidase activity	GO:032450	10.5	GAA, GANC, MGAM
7	alpha-glucosidase activity	GO:004558	10.5	GAA, GANC, SI, MGAM
8	AMP binding	GO:016208	10.5	PYGL, PYGM, PRKAG2
9	phosphoglycerate mutase activity	GO:004619	10.5	PGAM2, PGAM1, BPGM
10	bisphosphoglycerate 2-phosphatase activity	GO:004083	10.4	PGAM2, PGAM1, BPGM
11	bisphosphoglycerate mutase activity	GO:004082	10.4	PGAM2, PGAM1, BPGM
12	transporter activity	GO:005215	9.9	SLC37A4, SLC37A3, SLC37A1, SLC37A2, IGF2R, FXYD2
13	cation binding	GO:043169	9.9	GBE1, GBA, AGL, GLA
14	protein homodimerization activity	GO:042803	9.5	HLCS, PON1, SOD1, SHBG, CRP, PYGL
15	insulin receptor binding	GO:005158	8.9	INS, IGF2, IGF1, SLC2A2
16	growth factor activity	GO:008083	8.3	HGF, CSF3, CSF2, F2, IGF1, IGF2