GlyCosmos Portal

Glyco-Disease Genes Database (GDGDB)

GDGDB is a database of glycan-related diseases and their responsible genes.

Database	Last Updated
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Concept UI	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
CON00034	Sanfilippo syndrome A	SGSH	MPS IIIA Mucopolysaccharidosis type IIIA	Lysosomal Storage Diseases (LSDs)	P51688	DOID:12801
CON00356	RFT1-CDG	RFT1	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Congenital Disorders of Glycosylation (CDGs)	Q96AA3
CON00383	LARGE-CDG (cong. muscular dystrophy spectrum)	LARGE	Congenital muscular dystrophy type 1D (CMD1D) Muscular dystrophy, congenital, type 1D (MDC1D) Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)	Congenital Disorders of Glycosylation (CDGs)	O95461
CON00067	Gaucher disease, type II	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926
CON00071	Gaucher disease, type IIIC	GBA	neuronopathic form, cardiovascular form	Lysosomal Storage Diseases (LSDs)	P04062
CON00429	PMM2-CDG, infantile multisystem stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305
CON00010	Alpha-mannosidosis, type II (later-onset)	MAN2B1		Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00098	Combined saposin deficiency	PSAP	prosaposin deficiency saposin deficiency	Lysosomal Storage Diseases (LSDs)	P07602
CON00051	GM1-gangliosidosis, type I	GLB1	infantile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:3322
CON00623	DDOST-CDG	DDOST	CDG-Ir Congenital Disorder of Glycosylation, Type Ir	Congenital Disorders of Glycosylation (CDGs)	P39656