Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
GLYCOGEN STORAGE DISEASE	C0017919 MESH:D006008	AGL	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Neutrophil degranulation +1 more
		G6PC1	Causal	—	Disgenet	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +9 more
		GAA	Causal	—	Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
		GBE1	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
		GYG1	Causal	20357282	CTD, Disgenet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +6 more
		GYS1	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway +9 more
		GYS2	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway +8 more
		PFKM	Causal	—	Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +11 more
		PHKA2	Causal	7711737	CTD, Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
		PYGM	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Necroptosis +4 more
		SLC37A4	Causal	—	Disgenet	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, LATE-ONSET	420429 MONDO:0018485	GAA	Causal	—	GenCC, Orphanet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IA	79258 MONDO:0009287	G6PC1	Causal	—	ClinVar, GenCC, Orphanet	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +9 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD NEUROMUSCULAR FORM	308698	GBE1	Causal	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CONGENITAL NEUROMUSCULAR FORM	308670	GBE1	Causal	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM	308655	GBE1	Causal	—	Orphanet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE M-SUBUNIT DEFICIENCY	284426 MONDO:0013047	LDHA	Causal	—	ClinVar, GenCC, Orphanet	Glycolysis / Gluconeogenesis Cysteine and methionine metabolism Pyruvate metabolism +6 more
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE AND HEART GLYCOGEN SYNTHASE DEFICIENCY	137625 MONDO:0012693	GYS1	Causal	15282316 17928598 19699667 21958591 25613900 26977394	ClinGen, ClinVar, GWAS catalog, Orphanet	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway +9 more
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE BETA-ENOLASE DEFICIENCY	99849 C5566614 MONDO:0013046	ENO3	Causal	11506403	ClinVar, Disgenet, GenCC, Orphanet	Glycolysis / Gluconeogenesis Metabolic pathways Carbon metabolism +6 more
GLYCOGEN STORAGE DISEASE DUE TO PHOSPHOGLYCERATE KINASE 1 DEFICIENCY	713 MONDO:0010392 C5568976	PGK1	Causal	1547346 19157875 6933565 6941312 16567715 16740138 9512313 1586722 8673469 9744480	ClinVar, HPO, Orphanet, Disgenet	Glycolysis / Gluconeogenesis Metabolic pathways Carbon metabolism +5 more
GLYCOGEN STORAGE DISEASE IIIA	C1968739	AGL	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Neutrophil degranulation +1 more
GLYCOGEN STORAGE DISEASE IIIB	C1968740	AGL	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Neutrophil degranulation +1 more
GLYCOGEN STORAGE DISEASE IIIC	C1968741	AGL	Causal	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Neutrophil degranulation +1 more
GLYCOGEN STORAGE DISEASE IXA1	306000 C3694531 MONDO:0010598 OMIM:306000	PHKA2	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE IXB	261750 C0543514 MESH:C563008 MONDO:0009868	PHKB	Causal	10487978 17689125 36077341 9215682 9402963	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE IXC	613027 C2751643 MESH:C567809 MONDO:0013091	PHKG2	Causal	10487978 21646031 24389071 25266922 30659246 32697758 34083142 34876562 35549678 6962066 8896567 9384616	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE IXD	300559 MONDO:0010362	PHKA1	Causal	12825073 13402896 1409665 15637709 18401027 20080404 22238410 25613900 28600779 32303402 32707033 33799212 33961781 34615823 35710611 35957617 38548794 38586167 6020474 7874115 8298647 9731190	CTD, ClinGen, ClinVar, HPO	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE TYPE 1 DUE TO SLC37A4 MUTATION	MONDO:0023258	SLC37A4	Causal	—	GenCC	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
GLYCOGEN STORAGE DISEASE TYPE III	C0017922 MESH:D006010	AFG3L2	Causal	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
GLYCOGEN STORAGE DISEASE TYPE III	C0017922 MESH:D006010	AGL	Causal	24700805 8755644 8990006	CTD, ClinVar, Disgenet	Starch and sucrose metabolism Metabolic pathways Neutrophil degranulation +1 more
GLYCOGEN STORAGE DISEASE TYPE IXC	C3694529	PHKG2	Causal	—	Disgenet	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway +1 more
GLYCOGEN STORAGE DISEASE TYPE X	C0268149	PGAM2	Causal	—	ClinVar, Disgenet	Glycolysis / Gluconeogenesis Glycine, serine and threonine metabolism Metabolic pathways +6 more
GLYCOGEN STORAGE DISEASE XV	613507 C3150754 MONDO:0013291 OMIM:613507	GYG1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +6 more
GLYCOGEN STORAGE DISEASE, TYPE II		GAA	Causal	15668445 1652892 17616415 1898413 3865697 7881422 7881425 7945303 8834250 9529346	ClinVar	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
GLYCOGEN STORAGE DISEASE, TYPE IV		GBE1	Causal	—	ClinVar	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
GLYCOGEN STORAGE DISEASE, TYPE V		PYGM	Causal	—	ClinVar	Starch and sucrose metabolism Metabolic pathways Necroptosis +4 more
GLYCOGEN STORAGE DISEASE, TYPE VI		PYGL	Causal	9529348 9536091	ClinVar	Starch and sucrose metabolism Metabolic pathways Necroptosis +5 more
GLYCOGEN STORAGE DISEASE, TYPE VII		PFKM	Causal	—	ClinVar	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +11 more
GLYCOGEN STORAGE DISORDER DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY	MONDO:0009414	GYS2	Causal	1731614 20051115 20178984 23715323 26937415 29167993 30968641 32395408 32779500 33473338 33489759 35690592 37574425 9691087	ClinGen, ClinVar, Disgenet	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway +8 more

Glycogen storage disease

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