Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
GLYCOGEN STORAGE DISEASE	C0017919 MESH:D006008	AGL	Causal	—	Disgenet
		G6PC1	Causal	—	Disgenet
		GAA	Causal	—	Disgenet
		GBE1	Causal	—	Disgenet
		GYG1	Causal	20357282	CTD Disgenet
		GYS1	Causal	—	Disgenet
		GYS2	Causal	—	Disgenet
		PFKM	Causal	—	Disgenet
		PHKA2	Causal	7711737	CTD Disgenet
		PYGM	Causal	—	Disgenet
		SLC37A4	Causal	—	Disgenet
		CCDC40	Unknown	—	Disgenet
		PHKA1	Unknown	—	Disgenet
		PHKG2	Unknown	—	Disgenet
		PRKAG2	Unknown	—	Disgenet
		PYGL	Unknown	—	Disgenet
		RBCK1	Unknown	—	Disgenet
		SLC2A2	Unknown	—	Disgenet
GLYCOGEN STORAGE DISEASE 0, LIVER	240600 C1855861 MESH:C565485	GYS2	Unknown	—	CTD Disgenet HPO
GLYCOGEN STORAGE DISEASE 0, MUSCLE	C1969054 611556 MESH:C566917	FTL	Unknown	—	Disgenet
GLYCOGEN STORAGE DISEASE 0, MUSCLE	C1969054 611556 MESH:C566917	GYS1	Unknown	—	CTD Disgenet HPO
GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET	308552 C3888924 MONDO:0017694	GAA	Unknown	—	Disgenet GenCC Orphanet
GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, LATE-ONSET	420429 MONDO:0018485	GAA	Causal	—	GenCC Orphanet
GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY	57 MONDO:0012747	ALDOA	Unknown	2825199 8598869	GWAS catalog Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IA	79258 MONDO:0009287	G6PC1	Causal	—	ClinVar GenCC Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB	79259	SLC37A4	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY	MONDO:0009216	SLC2A2	Unknown	9354798 11044475	GWAS catalog
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY	MONDO:0009292	GBE1	Unknown	—	ClinGen GenCC
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, ADULT NEUROMUSCULAR FORM	308712	GBE1	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM	308684	GBE1	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD NEUROMUSCULAR FORM	308698	GBE1	Causal	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CONGENITAL NEUROMUSCULAR FORM	308670	GBE1	Causal	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM	308655	GBE1	Causal	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, NON PROGRESSIVE HEPATIC FORM	308638	GBE1	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, PROGRESSIVE HEPATIC FORM	308621 C5679972	GBE1	Unknown	—	Disgenet Orphanet
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY	366	AGL	Unknown	10571954 17908927	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY	2089	GYS2	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE H-SUBUNIT DEFICIENCY	284435 MONDO:0013587	LDHB	Unknown	—	ClinVar GenCC Orphanet
GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE M-SUBUNIT DEFICIENCY	284426 MONDO:0013047	LDHA	Causal	—	ClinVar GenCC Orphanet
GLYCOGEN STORAGE DISEASE DUE TO LIVER AND MUSCLE PHOSPHORYLASE KINASE DEFICIENCY	79240	PHKB	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY	369	PYGL	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY	264580 MONDO:0020693	PHKA2	Unknown	—	GenCC Orphanet
	264580 MONDO:0020693	PHKG2	Unknown	—	GenCC Orphanet
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
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE BETA-ENOLASE DEFICIENCY	99849 C5566614 MONDO:0013046	ENO3	Causal	11506403	ClinVar Disgenet GenCC Orphanet
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY	368	PYGM	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY	371	PFKM	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHORYLASE KINASE DEFICIENCY	715	PHKA1	Unknown	—	Orphanet
	715	PHKG1	Unknown	—	Orphanet
GLYCOGEN STORAGE DISEASE DUE TO PHOSPHOGLYCERATE KINASE 1 DEFICIENCY	713 MONDO:0010392	PGK1	Causal	1547346 19157875 6933565 6941312 16567715 16740138 9512313 1586722 8673469 9744480	ClinVar HPO Orphanet

Glycogen storage disease