GlyCosmos Portal

Homo sapiens (human)

Summary

Gene Symbol	Gene Symbol Aliases	Gene ID	Disease Name ▲
GALNS	GALNAC6S GAS GalN6S Morquio syndrome N-acetylgalactosamine-6-sulfatase chondroitinase chondroitinsulfatase galactose-6-sulfate sulfatase mucopolysaccharidosis type IVA	2588	Morquio syndrome A
GNPTAB	KIAA1208 MGC4170	79158	Mucolipidosis II (alpha/beta) Mucolipidosis III (alpha/beta)
IDS	Hunter syndrome ID2S	3423	Mucopolysaccharidosis II
GUSB		2990	Mucopolysaccharidosis VII
PIGN	GPI ethanolamine phosphate transferase 1 MCD4 PIG-N	23556	Multiple congenital anomalies-hypotonia-seizures syndrome 1
B3GAT3	GlcAT-I galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 glucuronosyltransferase I	26229	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
SUMF1	FGE UNQ3037	285362	Multiple sulfatase deficiency
FKRP	FKTR LGMD2I MDC1C	79147	Muscular dystrophy, congenital, type 1C Muscular dystrophy, limb-girdle, type 2I
GFPT1	GFA GFAT GFAT1	2673	Myasthenia, congenital, with tubular aggregates 1
SMPD1	ASM Niemann-Pick type A/B acid sphingomyelinase	6609	Niemann-Pick disease, type A Niemann-Pick disease, type B