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
CON00354	ALG9-CDG	ALG9	CDG-IL Congenital disorder of glycosylation, type IL	Congenital Disorders of Glycosylation (CDGs)	Q9H6U8
CON00622	SRD5A3-CDG	SRD5A3	CDG-Iq Congenital Disorder of Glycosylation, Type Iq Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities	Congenital Disorders of Glycosylation (CDGs)	Q9H8P0
CON00367	COG4-CDG	COG4	CDG-IIj Congenital disorder of glycosylation, type IIj	Congenital Disorders of Glycosylation (CDGs)	Q9H9E3
CON00381	Muscular dystrophy, congenital, type 1C	FKRP	Congenital muscular dystrophy type 1C (CMD1C) FKRP-CDG (cong. muscular dystrophy spectrum) Muscular dystrophy, congenital, type 1C (MDC1C) Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)	Congenital Disorders of Glycosylation (CDGs)	Q9H9S5
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
CON00626	TMEM165-CDG	TMEM165	CDG-IIk Congenital Disorder of Glycosylation, Type IIk	Congenital Disorders of Glycosylation (CDGs)	Q9HC07
CON00624	ALG13-CDG	ALG13	CDG-Is Congenital Disorder of Glycosylation, Type Is	Congenital Disorders of Glycosylation (CDGs)	Q9NP73
CON00399	SLC35D1-CDG	SLC35D1	Chondrodysplasia, lethal neonatal, with snail-like pelvis Schneckenbecken dysplasia	Congenital Disorders of Glycosylation (CDGs)	Q9NTN3	DOID:0050775
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9
CON00620	DPM3-CDG	DPM3	CDG-Io Congenital Disorder of Glycosylation, Type Io	Congenital Disorders of Glycosylation (CDGs)	Q9P2X0