GlyCosmos Portal

Homo sapiens (human)

Summary

Gene Symbol	Gene Symbol Aliases	Gene ID	Disease Name ▲
MOGS	CWH41 DER7 GCS1 glucosidase I processing A-glucosidase I	7841	GCS1-CDG
GLB1	EBP elastin binding protein	2720	GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III Morquio syndrome B
GM2A	GM2-AP GM2-activator protein GM2AP SAP-3 cerebroside sulfate activator protein sphingolipid activator protein 3	2760	GM2-gangliosidosis, AB variant
CTSA	carboxypeptidase C carboxypeptidase Y-like kininase carboxypeptidase-L deamidase lysosomal carboxypeptidase A lysosomal protective protein urinary kininase	5476	Galactosialidosis
GBA1	glucocerebrosidase	2629	Gaucher disease, type I Gaucher disease, type II Gaucher disease, type II, neuronopathic form, classic type Gaucher disease, type II, perinatal lethal form Gaucher disease, type III Gaucher disease, type IIIC
GNE	Uae1 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	10020	Hereditary inclusion body myopathy type 2 Nonaka myopathy
IDUA	MPS1 MPSI mucopolysaccharidosis type I	3425	Hurler syndrome Hurler-Scheie syndrome Scheie syndrome
PIGV	FLJ20477 GPI mannosyltransferase 2 GPI-MT-II PIG-V dol-P-Man dependent GPI mannosyltransferase II	55650	Hyperphosphatasia with mental retardation syndrome 1
GALC	Krabbe disease	2581	Krabbe disease Krabbe disease, infantile form Krabbe disease, late-onset form
LARGE1	KIAA0609 like-acetylglucosaminyltransferase	9215	LARGE-CDG (cong. muscular dystrophy spectrum)