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
CON00070	Gaucher disease, type III	GBA	neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926
CON00353	ALG1-CDG	ALG1	CDG-Ik Congenital disorder of glycosylation, type Ik	Congenital Disorders of Glycosylation (CDGs)	Q9BT22
CON00365	COG8-CDG	COG8	CDG-IIh COG8 deficiency Congenital disorder of glycosylation, type IIh	Congenital Disorders of Glycosylation (CDGs)	Q96MW5
CON00005	Aspartylglucosaminuria	AGA		Lysosomal Storage Diseases (LSDs)	P20933
CON00404	B3GALTL-CDG	B3GALTL	Krause-Kivlin syndrome Peters anomaly with short limb dwarfism Peters-plus syndrome	Congenital Disorders of Glycosylation (CDGs)	Q6Y288
CON00396	Achondrogenesis type IB	SLC26A2	ACG1B Achondrogenesis, Fraccaro type	Congenital Disorders of Glycosylation (CDGs)	P50443
CON00074	Krabbe disease, infantile form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00634	Ehlers-Danlos syndrome, musculocontractural type	CHST14	Adducted thumb and clubfoot syndrome	Congenital Disorders of Glycosylation (CDGs)	Q8NCH0
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9
CON00627	COG6-CDG	COG6	CDG-IIL Congenital Disorder of Glycosylation, Type IIL	Congenital Disorders of Glycosylation (CDGs)	Q9Y2V7