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
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469
CON00364	COG1-CDG	COG1	CDG-IIg CDGII/COG1 Cerebrocostomandibular-like syndrome COG1 deficiency Congenital disorder of glycosylation, type IIg	Congenital Disorders of Glycosylation (CDGs)	Q8WTW3
CON00367	COG4-CDG	COG4	CDG-IIj Congenital disorder of glycosylation, type IIj	Congenital Disorders of Glycosylation (CDGs)	Q9H9E3
CON00366	COG5-CDG	COG5	CDG-IIi Congenital disorder of glycosylation, type IIi	Congenital Disorders of Glycosylation (CDGs)	Q9UP83
CON00627	COG6-CDG	COG6	CDG-IIL Congenital Disorder of Glycosylation, Type IIL	Congenital Disorders of Glycosylation (CDGs)	Q9Y2V7
CON00362	COG7-CDG	COG7	CDG-IIe Congenital disorder of glycosylation, type IIe	Congenital Disorders of Glycosylation (CDGs)	P83436
CON00365	COG8-CDG	COG8	CDG-IIh COG8 deficiency Congenital disorder of glycosylation, type IIh	Congenital Disorders of Glycosylation (CDGs)	Q96MW5
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
CON00098	Combined saposin deficiency	PSAP	prosaposin deficiency saposin deficiency	Lysosomal Storage Diseases (LSDs)	P07602
CON00623	DDOST-CDG	DDOST	CDG-Ir Congenital Disorder of Glycosylation, Type Ir	Congenital Disorders of Glycosylation (CDGs)	P39656