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
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
CON00346	ALG3-CDG	ALG3	CDG-Id Congenital disorder of glycosylation, type Id	Congenital Disorders of Glycosylation (CDGs)	Q92685
CON00360	SLC35C1-CDG	SLC35C1	CDG-IIc Congenital disorder of glycosylation, type IIc Leukocyte adhesion deficiency, type 2 Rambam Hasharon syndrome	Congenital Disorders of Glycosylation (CDGs)	Q96A29
CON00356	RFT1-CDG	RFT1	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Congenital Disorders of Glycosylation (CDGs)	Q96AA3
CON00401	Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)	C1GALT1C1	Galactosyltransferase Deficiency Tn syndrome (SOMATIC MUTATION)	Congenital Disorders of Glycosylation (CDGs)	Q96EU7
CON00365	COG8-CDG	COG8	CDG-IIh COG8 deficiency Congenital disorder of glycosylation, type IIh	Congenital Disorders of Glycosylation (CDGs)	Q96MW5
CON00012	Sialidosis	NEU1	Mucolipidosis I Neuraminidase deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00013	Sialidosis type I	NEU1	Cherry-red spot myoclonus syndrome Normosomatic sialidosis	Lysosomal Storage Diseases (LSDs)	Q99519
CON00014	Sialidosis type II	NEU1	Dysmorphic sialidosis Neuraminidase 1 deficiency	Lysosomal Storage Diseases (LSDs)	Q99519