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
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
CON00626	TMEM165-CDG	TMEM165	CDG-IIk Congenital Disorder of Glycosylation, Type IIk	Congenital Disorders of Glycosylation (CDGs)	Q9HC07
CON00355	DOLK-CDG	TMEM15	CDG-Im Congenital disorder of glycosylation, type Im DK1 deficiency DK1-CDG Dolichol kinase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UPQ8
CON00078	Multiple sulfatase deficiency	SUMF1	MSD Multiple sulfatase deficiency disease	Lysosomal Storage Diseases (LSDs)	Q8NBK3
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203
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
CON00086	Niemann-Pick disease, type A	SMPD1	neurological type	Lysosomal Storage Diseases (LSDs)	P17405
CON00087	Niemann-Pick disease, type B	SMPD1	non-neurological type	Lysosomal Storage Diseases (LSDs)	P17405
CON00399	SLC35D1-CDG	SLC35D1	Chondrodysplasia, lethal neonatal, with snail-like pelvis Schneckenbecken dysplasia	Congenital Disorders of Glycosylation (CDGs)	Q9NTN3	DOID:0050775
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