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
CON00364	COG1-CDG	COG1	CDG-IIg CDGII/COG1 Cerebrocostomandibular-like syndrome COG1 deficiency Congenital disorder of glycosylation, type IIg	Congenital Disorders of Glycosylation (CDGs)	Q8WTW3
CON00365	COG8-CDG	COG8	CDG-IIh COG8 deficiency Congenital disorder of glycosylation, type IIh	Congenital Disorders of Glycosylation (CDGs)	Q96MW5
CON00366	COG5-CDG	COG5	CDG-IIi Congenital disorder of glycosylation, type IIi	Congenital Disorders of Glycosylation (CDGs)	Q9UP83
CON00367	COG4-CDG	COG4	CDG-IIj Congenital disorder of glycosylation, type IIj	Congenital Disorders of Glycosylation (CDGs)	Q9H9E3
CON00369	TUSC3-CDG	TUSC3	Mental retardation, autosomal recessive 22 Mental retardation, autosomal recessive 7 (MRT7) Oligosaccharyltransferase TUSC3 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q13454
CON00371	ATP6VOA2-CDG	ATP6V0A2	ATP6VOA2 defect (cutis laxa type II) Cutis laxa, autosomal recessive, type IIA (ARCL2A) Debre-Type cutis laxa V-ATPase a2 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q9Y487
CON00373	SEC23B-CDG	SEC23B	CDA II Congenital dyserythropoietic anaemia, type II Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)	Congenital Disorders of Glycosylation (CDGs)	Q15437	DOID:1338
CON00376	POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)	POMT1,POMT2	Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2) Walker-Warburg syndrome (WWS)	Congenital Disorders of Glycosylation (CDGs)		DOID:0050560
CON00377	POMGNT1-CDG (cong. muscular dystrophy spectrum)	POMGNT1	Muscle-eye-brain disease (MEB) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)	Congenital Disorders of Glycosylation (CDGs)	Q8WZA1	DOID:0050560
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