GlyCosmos Portal

Homo sapiens (human)

Summary

Gene Symbol	Gene Symbol Aliases	Gene ID	Disease Name ▼
ARSB	ASB	411	Maroteaux-Lamy syndrome, intermediate form Maroteaux-Lamy syndrome, mild form Maroteaux-Lamy syndrome, severe form Mucopolysaccharidosis VI
CHST6		4166	Macular corneal dystrophy
MPI	mannose-6-phosphate isomerase	4351	MPI-CDG
MPDU1	CDGIf Lec35 PQLC5 SL15 SLC66A5	9526	MPDU1-CDG
MGAT2	GNT-II	4247	MGAT2-CDG
PLOD3	LH3 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 lysyl hydroxlase 3	8985	Lysyl hydroxylase 3 deficiency
LFNG	SCDO3	3955	LFNG-CDG
LARGE1	KIAA0609 like-acetylglucosaminyltransferase	9215	LARGE-CDG (cong. muscular dystrophy spectrum)
GALC	Krabbe disease	2581	Krabbe disease Krabbe disease, infantile form Krabbe disease, late-onset form
PIGV	FLJ20477 GPI mannosyltransferase 2 GPI-MT-II PIG-V dol-P-Man dependent GPI mannosyltransferase II	55650	Hyperphosphatasia with mental retardation syndrome 1