Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
GLYCOGEN STORAGE DISEASE	C0017919	CCDC40	Unknown	—	Disgenet	—
		PHKA1	Unknown	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
		PHKG2	Unknown	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
		PRKAG2	Unknown	—	Disgenet	FoxO signaling pathway AMPK signaling pathway Longevity regulating pathway +19 more
		PYGL	Unknown	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Necroptosis +5 more
		RBCK1	Unknown	—	Disgenet	Necroptosis NOD-like receptor signaling pathway Shigellosis +3 more
		SLC2A2	Unknown	—	Disgenet	Insulin secretion Prolactin signaling pathway Glucagon signaling pathway +9 more
GLYCOGEN STORAGE DISEASE 0, LIVER	240600 C1855861 MESH:C565485	GYS2	Unknown	—	CTD, Disgenet, HPO	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway +8 more
GLYCOGEN STORAGE DISEASE 0, MUSCLE	C1969054 611556 MESH:C566917	FTL	Unknown	—	Disgenet	Porphyrin metabolism Ferroptosis Necroptosis +4 more
GLYCOGEN STORAGE DISEASE 0, MUSCLE	C1969054 611556 MESH:C566917	GYS1	Unknown	—	CTD, Disgenet, HPO	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway +9 more
GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET	308552 C3888924 MONDO:0017694	GAA	Unknown	—	Disgenet, GenCC, Orphanet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY	57 MONDO:0012747	ALDOA	Unknown	2825199 8598869	GWAS catalog, Orphanet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +8 more
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB	79259	SLC37A4	Unknown	—	Orphanet	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY	MONDO:0009216	SLC2A2	Unknown	9354798 11044475	GWAS catalog	Insulin secretion Prolactin signaling pathway Glucagon signaling pathway +9 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY	MONDO:0009292	GBE1	Unknown	—	ClinGen, GenCC	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, ADULT NEUROMUSCULAR FORM	308712	GBE1	Unknown	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM	308684	GBE1	Unknown	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, NON PROGRESSIVE HEPATIC FORM	308638	GBE1	Unknown	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, PROGRESSIVE HEPATIC FORM	308621 C5679972	GBE1	Unknown	—	Disgenet, Orphanet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY	366	AGL	Unknown	10571954 17908927	Orphanet	Starch and sucrose metabolism Metabolic pathways Neutrophil degranulation +1 more
GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY	2089	GYS2	Unknown	—	Orphanet	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway +8 more
GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE H-SUBUNIT DEFICIENCY	284435 MONDO:0013587	LDHB	Unknown	—	ClinVar, GenCC, Orphanet	Glycolysis / Gluconeogenesis Cysteine and methionine metabolism Pyruvate metabolism +6 more
GLYCOGEN STORAGE DISEASE DUE TO LIVER AND MUSCLE PHOSPHORYLASE KINASE DEFICIENCY	79240	PHKB	Unknown	—	Orphanet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY	369	PYGL	Unknown	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Necroptosis +5 more
GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY	264580 MONDO:0020693	PHKA2	Unknown	—	GenCC, Orphanet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
	264580 MONDO:0020693	PHKG2	Unknown	—	GenCC, Orphanet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY	368	PYGM	Unknown	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Necroptosis +4 more
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY	371	PFKM	Unknown	—	Orphanet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +11 more
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHORYLASE KINASE DEFICIENCY	715	PHKA1	Unknown	—	Orphanet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
	715	PHKG1	Unknown	—	Orphanet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY	97234 MONDO:0009865	PGAM2	Unknown	—	GenCC, Orphanet	Glycolysis / Gluconeogenesis Glycine, serine and threonine metabolism Metabolic pathways +6 more
GLYCOGEN STORAGE DISEASE I	MONDO:0002413	G6PC1	Unknown	10234610 10738525 10797430 11058918 11196115 12093795 17607665 21109326 27139513 27511118 32436859 33359667 35834487 8640227 8739966	ClinGen, GWAS catalog	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +9 more
GLYCOGEN STORAGE DISEASE IA	232200	G6PC1	Unknown	—	HPO	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +9 more
GLYCOGEN STORAGE DISEASE IB	232220 MESH:C562594 MONDO:0009288	SLC37A4	Unknown	9428641 9758626 32005221 31617422 31508908 28224773 25804016 24385852 21629566 19579760	CTD, Disgenet, HPO	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
GLYCOGEN STORAGE DISEASE IC	232240 C0342749 MESH:C562805	SLC37A4	Unknown	—	CTD, Disgenet, HPO	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
GLYCOGEN STORAGE DISEASE II	MONDO:0009290	GAA	Unknown	3865697 15668445 7945303 8834250 1652892 1898413 7881425 9529346 7881422 17616415	ClinGen, GWAS catalog	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
GLYCOGEN STORAGE DISEASE III	232400 MONDO:0009291	AGL	Unknown	—	ClinGen, GenCC, HPO	Starch and sucrose metabolism Metabolic pathways Neutrophil degranulation +1 more
GLYCOGEN STORAGE DISEASE IV	232500	GBE1	Unknown	—	HPO	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	261740 C1849813 MESH:C564888	PRKAG2	Unknown	—	CTD, Disgenet, HPO	FoxO signaling pathway AMPK signaling pathway Longevity regulating pathway +19 more
GLYCOGEN STORAGE DISEASE TYPE 4, ADULT NEUROMUSCULAR FORM	C5679968	GBE1	Unknown	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE TYPE I	C0017920 MESH:D005953	G6PC1	Unknown	7573034 8211187	CTD, Disgenet	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +9 more
GLYCOGEN STORAGE DISEASE TYPE I	C0017920 MESH:D005953	SLC37A4	Unknown	19579760 21629566 24385852 25804016 28224773 31508908 31617422 32005221 9428641 9758626	Disgenet	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
GLYCOGEN STORAGE DISEASE TYPE IA	C2919796	ASS1	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Metabolic pathways +3 more
		G6PC1	Unknown	7573034 8211187	Disgenet	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +9 more
		GAA	Unknown	—	Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
GLYCOGEN STORAGE DISEASE TYPE II	C0017921 MESH:D006009	CCDC40	Unknown	—	Disgenet	—
		GAA	Unknown	11328962 15466083 18176891 21644219 21963784	CTD, Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
		PIK3CA	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		TNNT2	Unknown	26787432	CTD, Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
GLYCOGEN STORAGE DISEASE TYPE II LATE ONSET	C0342753	GAA	Unknown	—	Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
GLYCOGEN STORAGE DISEASE TYPE IIB	C0878677 MESH:D052120	LAMP2	Unknown	—	CTD, Disgenet	Virion - Hepatitis viruses Virion - Lassa virus and SFTS virus Autophagy - animal +5 more
GLYCOGEN STORAGE DISEASE TYPE IV	C0017923 MESH:D006011	GAA	Unknown	—	Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
		GBE1	Unknown	—	CTD, Disgenet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
		PFKM	Unknown	30792690	CTD, Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +11 more
		RBCK1	Unknown	—	Disgenet	Necroptosis NOD-like receptor signaling pathway Shigellosis +3 more
GLYCOGEN STORAGE DISEASE TYPE IXC	C3694529	PHKA2	Unknown	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE TYPE V	C0017924 MESH:D006012	ACE	Unknown	12666117	CTD, Disgenet	Renin-angiotensin system Renin secretion Chagas disease +4 more
GLYCOGEN STORAGE DISEASE TYPE V	C0017924 MESH:D006012	PYGM	Unknown	12666117 18380285	CTD, Disgenet	Starch and sucrose metabolism Metabolic pathways Necroptosis +4 more
GLYCOGEN STORAGE DISEASE TYPE VI	C0017925 MESH:D006013	PYGL	Unknown	9529348 9536091	CTD, Disgenet	Starch and sucrose metabolism Metabolic pathways Necroptosis +5 more
GLYCOGEN STORAGE DISEASE TYPE VII	C0017926 MESH:D006014	PFKM	Unknown	2140573 8444874	CTD, Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +11 more
GLYCOGEN STORAGE DISEASE TYPE X	C0268149	DBNL	Unknown	—	Disgenet	Caspase-mediated cleavage of cytoskeletal proteins Neurexins and neuroligins Neutrophil degranulation
GLYCOGEN STORAGE DISEASE V	232600 MONDO:0009293	PYGM	Unknown	11568145 11809171 12031624 15262743 18667317 25240406 25873271 31747538 34373715 35022222 37701325 37760875	ClinGen, GWAS catalog, HPO	Starch and sucrose metabolism Metabolic pathways Necroptosis +4 more
GLYCOGEN STORAGE DISEASE VI	232700 MONDO:0009294	PYGL	Unknown	9536091 9529348	ClinGen, GWAS catalog, HPO	Starch and sucrose metabolism Metabolic pathways Necroptosis +5 more
GLYCOGEN STORAGE DISEASE VII	232800 MONDO:0009295	PFKM	Unknown	—	GenCC, HPO	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +11 more
GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY	263297 C4303568	GYG1	Unknown	20357282	Orphanet, Disgenet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +6 more
GLYCOGEN STORAGE DISEASE X	261670	PGAM2	Unknown	—	HPO	Glycolysis / Gluconeogenesis Glycine, serine and threonine metabolism Metabolic pathways +6 more
GLYCOGEN STORAGE DISEASE XI	612933	LDHA	Unknown	26067360 2334430 6517049 1959923	HPO	Glycolysis / Gluconeogenesis Cysteine and methionine metabolism Pyruvate metabolism +6 more
GLYCOGEN STORAGE DISEASE XII	611881 C0272066 MESH:C562718	ALDOA	Unknown	2825199 8598869	CTD, Disgenet, HPO	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +8 more
GLYCOGEN STORAGE DISEASE XII	611881 C0272066 MESH:C562718	LOC112694756	Unknown	—	Disgenet	—
GLYCOGEN STORAGE DISEASE XIII	612932 C2752027 MESH:C567861	ENO3	Unknown	—	CTD, Disgenet, HPO	Glycolysis / Gluconeogenesis Metabolic pathways Carbon metabolism +6 more
GLYCOGEN STORAGE DISEASE XIV	C2752015 MESH:C567859	PGM1	Unknown	27206562	CTD, Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism +8 more
GLYCOGEN STORAGE DISEASE, TYPE IX	C0268147	CFAP119	Unknown	—	Disgenet	—
		PHKA1	Unknown	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
		PHKA2	Unknown	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
		PHKB	Unknown	27604308	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
		PHKG2	Unknown	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE, TYPE IXA	C3694532	PHKA2	Unknown	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE, TYPE IXA	C3694532	PHKG2	Unknown	27604308	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE, TYPE IXA2	C2748941	PHKA2	Unknown	27604308	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE, TYPE IXD	C1845151 MESH:C564485	PHKA1	Unknown	—	CTD, Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more

Glycogen storage disease

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