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
CON00369	TUSC3-CDG	TUSC3	Mental retardation, autosomal recessive 22 Mental retardation, autosomal recessive 7 (MRT7) Oligosaccharyltransferase TUSC3 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q13454
CON00371	ATP6VOA2-CDG	ATP6V0A2	ATP6VOA2 defect (cutis laxa type II) Cutis laxa, autosomal recessive, type IIA (ARCL2A) Debre-Type cutis laxa V-ATPase a2 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q9Y487
CON00379	Muscular dystrophy, limb-girdle, type 2M	FKTN	FKTN-CDG (cong. muscular dystrophy spectrum) Limb-girdle muscular dystrophy type 2M (LGMD2M) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)	Congenital Disorders of Glycosylation (CDGs)	O75072
CON00380	Cardiomyopathy, dilated, 1X	FKTN	Cardiomyopathy, dilated, 1X (CMD1X) Dilated cardiomyopathy with mild or no proximal muscle weakness FKTN-CDG (cong. muscular dystrophy spectrum)	Congenital Disorders of Glycosylation (CDGs)	O75072
CON00381	Muscular dystrophy, congenital, type 1C	FKRP	Congenital muscular dystrophy type 1C (CMD1C) FKRP-CDG (cong. muscular dystrophy spectrum) Muscular dystrophy, congenital, type 1C (MDC1C) Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)	Congenital Disorders of Glycosylation (CDGs)	Q9H9S5
CON00382	Muscular dystrophy, limb-girdle, type 2I	FKRP	FKRP-CDG (cong. muscular dystrophy spectrum) Limb-girdle muscular dystrophy type 2I (LGMD2I) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)	Congenital Disorders of Glycosylation (CDGs)	Q9H9S5
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
CON00385	Hereditary inclusion body myopathy type 2	GNE	GNE-CDG (hereditary inclusion body myopathy) Hereditary inclusion body myopathy type 2 (HIBM2) Inclusion body myopathy 2, autosomal recessive (IBM2)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223
CON00386	Nonaka myopathy	GNE	Distal myopathy with rimmed vacuoles (DMRV) Distal myopathy, Nonaka type Nonaka myopathy (NM)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223
CON00391	Macular corneal dystrophy	CHST6	Macular corneal dystrophy Type I Macular corneal dystrophy Type II	Congenital Disorders of Glycosylation (CDGs)	Q9GZX3