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
CON00345	ALG6-CDG	ALG6	CDG-Ic Congenital disorder of glycosylation, type Ic	Congenital Disorders of Glycosylation (CDGs)	Q9Y672
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
CON00627	COG6-CDG	COG6	CDG-IIL Congenital Disorder of Glycosylation, Type IIL	Congenital Disorders of Glycosylation (CDGs)	Q9Y2V7
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
CON00355	DOLK-CDG	TMEM15	CDG-Im Congenital disorder of glycosylation, type Im DK1 deficiency DK1-CDG Dolichol kinase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UPQ8
CON00366	COG5-CDG	COG5	CDG-IIi Congenital disorder of glycosylation, type IIi	Congenital Disorders of Glycosylation (CDGs)	Q9UP83
CON00412	ST3GAL5-CDG	SIAT9	Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UNP4
CON00629	Mental retardation, autosomal recessive 15	MAN1B1	MRT15	Congenital Disorders of Glycosylation (CDGs)	Q9UKM7
CON00388	B4GALT7-CDG	B4GALT7	Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome, progeroid type, 1 Galactosyltransferase 1 deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UBV7	DOID:0050802