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
CON00073	Krabbe disease	GALC	Galactosylceramide beta-galactosidase deficiency Globoid cell leukodystrophy Krabbe leukodystrophy Leukodystrophy, globoid cell	Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00074	Krabbe disease, infantile form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00075	Krabbe disease, late-onset form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00090	Niemann-Pick disease, type C2	NPC2		Lysosomal Storage Diseases (LSDs)	P61916
CON00363	SLC35A1-CDG	SLC35A1	CDG-IIf Congenital disorder of glycosylation, type IIf	Congenital Disorders of Glycosylation (CDGs)	P78382
CON00362	COG7-CDG	COG7	CDG-IIe Congenital disorder of glycosylation, type IIe	Congenital Disorders of Glycosylation (CDGs)	P83436
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:14775
CON00628	Myasthenia, congenital, with tubular aggregates 1	GFPT1	CMSTA1	Congenital Disorders of Glycosylation (CDGs)	Q06210
CON00358	MGAT2-CDG	MGAT2	CDG-IIa Congenital disorder of glycosylation, type IIa	Congenital Disorders of Glycosylation (CDGs)	Q10469
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203