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
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
CON00352	DPAGT1-CDG	DPAGT1	CDG-Ij Congenital disorder of glycosylation, type Ij	Congenital Disorders of Glycosylation (CDGs)	Q9H3H5
CON00347	DPM1-CDG	DPM1	CDG-Ie Congenital disorder of glycosylation, type Ie	Congenital Disorders of Glycosylation (CDGs)	O60762
CON00620	DPM3-CDG	DPM3	CDG-Io Congenital Disorder of Glycosylation, Type Io	Congenital Disorders of Glycosylation (CDGs)	Q9P2X0
CON00395	Diastrophic dysplasia	SLC26A2	Diastrophic dwarfism	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:14687
CON00384	Duchenne muscular dystrophy	DMD	DMD Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Congenital Disorders of Glycosylation (CDGs)	P11532	DOID:11723
CON00389	EXT1/EXT2-CDG	EXT1,EXT2	Exostoses, multiple, type 1 Exostoses, multiple, type 2 Hereditary multiple exostoses (HME) Hereditary multiple osteochondromas (HMO) Multiple cartilaginous exostoses	Congenital Disorders of Glycosylation (CDGs)		DOID:206
CON00634	Ehlers-Danlos syndrome, musculocontractural type	CHST14	Adducted thumb and clubfoot syndrome	Congenital Disorders of Glycosylation (CDGs)	Q8NCH0
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:14775
CON00064	Fabry disease	GLA	Alpha-galactosidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06280	DOID:14499