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
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
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
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
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
CON00398	Autosomal recessive multiple epiphyseal dysplasia	SLC26A2	Epiphyseal dysplasia, multiple, 4 (EDM4)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0070300
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
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:14775
CON00014	Sialidosis type II	NEU1	Dysmorphic sialidosis Neuraminidase 1 deficiency	Lysosomal Storage Diseases (LSDs)	Q99519
CON00386	Nonaka myopathy	GNE	Distal myopathy with rimmed vacuoles (DMRV) Distal myopathy, Nonaka type Nonaka myopathy (NM)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223
CON00395	Diastrophic dysplasia	SLC26A2	Diastrophic dwarfism	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:14687