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
CON00383	LARGE-CDG (cong. muscular dystrophy spectrum)	LARGE	Congenital muscular dystrophy type 1D (CMD1D) Muscular dystrophy, congenital, type 1D (MDC1D) Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)	Congenital Disorders of Glycosylation (CDGs)	O95461
CON00636	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	MCAHS1	Congenital Disorders of Glycosylation (CDGs)	O95427
CON00393	Spondyloepimetaphyseal dysplasia, pakistani type	PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes SEMD, pakistani type	Congenital Disorders of Glycosylation (CDGs)	O95340
CON00631	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3		Congenital Disorders of Glycosylation (CDGs)	O94766
CON00348	MPDU1-CDG	MPDU1	CDG-If Congenital disorder of glycosylation, type If	Congenital Disorders of Glycosylation (CDGs)	O75352
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
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
CON00347	DPM1-CDG	DPM1	CDG-Ie Congenital disorder of glycosylation, type Ie	Congenital Disorders of Glycosylation (CDGs)	O60762
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568