GlyCosmos Portal

Homo sapiens (human)

Summary

Gene Symbol	Gene Symbol Aliases	Gene ID	Disease Name ▲
LFNG	SCDO3	3955	LFNG-CDG
PLOD3	LH3 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 lysyl hydroxlase 3	8985	Lysyl hydroxylase 3 deficiency
MGAT2	GNT-II	4247	MGAT2-CDG
MPDU1	CDGIf Lec35 PQLC5 SL15 SLC66A5	9526	MPDU1-CDG
MPI	mannose-6-phosphate isomerase	4351	MPI-CDG
CHST6		4166	Macular corneal dystrophy
ARSB	ASB	411	Maroteaux-Lamy syndrome, intermediate form Maroteaux-Lamy syndrome, mild form Maroteaux-Lamy syndrome, severe form Mucopolysaccharidosis VI
ST3GAL3	N-acetyllactosaminide alpha-2,3-sialyltransferase ST3Gal III	6487	Mental retardation, autosomal recessive 12
MAN1B1	ER alpha 1,2-mannosidase ERMan1 ERManI MANA-ER MRT15 Man9GlcNAc2-specific processing alpha-mannosidase alpha 1,2-mannosidase endoplasmic Reticulum Class I alpha-mannosidase endoplasmic reticulum alpha-mannosidase 1 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1	11253	Mental retardation, autosomal recessive 15
ARSA	ASA metachromatic leucodystrophy	410	Metachromatic leukodystrophy Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, infantile form Metachromatic leukodystrophy, juvenile form