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
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:14775
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
CON00398	Autosomal recessive multiple epiphyseal dysplasia	SLC26A2	Epiphyseal dysplasia, multiple, 4 (EDM4)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0070300
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
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
CON00378	Fukuyama congenital muscular dystrophy	FKTN	FKTN-CDG (cong. muscular dystrophy spectrum) Fukuyama congenital muscular dystrophy (FCMD) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)	Congenital Disorders of Glycosylation (CDGs)	O75072	DOID:0050560
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
CON00062	GM2-gangliosidosis, AB variant	GM2A	GM2 activator deficiency Tay-Sachs disease, AB variant	Lysosomal Storage Diseases (LSDs)	P17900	DOID:4795
CON00055	Tay-Sachs disease	HEXA	GM2-Gangliosidosis, B variant GM2-gangliosidosis, type I Hexosaminidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00058	Sandhoff disease	HEXB	GM2-gangliosidosis, type II	Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323