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
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9
CON00029	Hurler syndrome	IDUA	Gargoylism, Hurler syndrome MPS1-H Mucopolysaccharidosis type IH Pfaundler-Hurler syndrome	Lysosomal Storage Diseases (LSDs)	P35475	DOID:12802
CON00401	Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)	C1GALT1C1	Galactosyltransferase Deficiency Tn syndrome (SOMATIC MUTATION)	Congenital Disorders of Glycosylation (CDGs)	Q96EU7
CON00073	Krabbe disease	GALC	Galactosylceramide beta-galactosidase deficiency Globoid cell leukodystrophy Krabbe leukodystrophy Leukodystrophy, globoid cell	Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00039	Morquio syndrome A	GALNS	Galactosamine-6-sulphatase deficiency MPS IVA Morquio's syndrome, classic form Mucopolysaccharidosis type IVA	Lysosomal Storage Diseases (LSDs)	P34059	DOID:12804
CON00103	Pompe disease	GAA	GSD type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease	Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00385	Hereditary inclusion body myopathy type 2	GNE	GNE-CDG (hereditary inclusion body myopathy) Hereditary inclusion body myopathy type 2 (HIBM2) Inclusion body myopathy 2, autosomal recessive (IBM2)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223
CON00058	Sandhoff disease	HEXB	GM2-gangliosidosis, type II	Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323
CON00055	Tay-Sachs disease	HEXA	GM2-Gangliosidosis, B variant GM2-gangliosidosis, type I Hexosaminidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00062	GM2-gangliosidosis, AB variant	GM2A	GM2 activator deficiency Tay-Sachs disease, AB variant	Lysosomal Storage Diseases (LSDs)	P17900	DOID:4795