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Glyco-Disease Genes Database (GDGDB)

GDGDB is a database of glycan-related diseases and their responsible genes.

Source	Last Updated
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **26 - 50** of **152** in total

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Concept UI ▲	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
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:0111391 DOID:0111392 DOID:12804
CON00040	Morquio syndrome B	GLB1	MPS IVB Morquio-like syndrome Mucopolysaccharidosis type IVB	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0111391 DOID:0111392 DOID:12804
CON00041	Mucopolysaccharidosis VI	ARSB	MPS VI, Maroteaux-Lamy syndrome	Lysosomal Storage Diseases (LSDs)	P15848	DOID:12800
CON00042	Maroteaux-Lamy syndrome, severe form	ARSB		Lysosomal Storage Diseases (LSDs)	P15848	DOID:12800
CON00043	Maroteaux-Lamy syndrome, mild form	ARSB		Lysosomal Storage Diseases (LSDs)	P15848	DOID:12800
CON00044	Maroteaux-Lamy syndrome, intermediate form	ARSB		Lysosomal Storage Diseases (LSDs)	P15848	DOID:12800
CON00045	Mucopolysaccharidosis VII	GUSB	MPS VII Sly syndrome	Lysosomal Storage Diseases (LSDs)	P08236	DOID:12803
CON00051	GM1-gangliosidosis, type I	GLB1	infantile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080502 DOID:3322
CON00052	GM1-gangliosidosis, type II	GLB1	Derry syndrome juvenile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080501 DOID:3322
CON00053	GM1-gangliosidosis, type III	GLB1	adult form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080489 DOID:3322
CON00055	Tay-Sachs disease	HEXA	GM2-Gangliosidosis, B variant GM2-gangliosidosis, type I Hexosaminidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00056	Tay-Sachs disease, infantile form	HEXA	Acute infantile	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00057	Tay-Sachs disease, late-onset forms	HEXA	Juvenile/Chronic/Adult-onset	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00058	Sandhoff disease	HEXB	GM2-gangliosidosis, type II	Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323
CON00059	Sandhoff disease, infantile form	HEXB		Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323
CON00060	Sandhoff disease, juvenile form	HEXB		Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323
CON00061	Sandhoff disease, adult form	HEXB		Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323
CON00062	GM2-gangliosidosis, AB variant	GM2A	GM2 activator deficiency Tay-Sachs disease, AB variant	Lysosomal Storage Diseases (LSDs)	P17900	DOID:4795
CON00064	Fabry disease	GLA	Alpha-galactosidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06280	DOID:14499
CON00066	Gaucher disease, type I	GBA	non-neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110957 DOID:1926
CON00067	Gaucher disease, type II	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926
CON00068	Gaucher disease, type II, neuronopathic form, classic type	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110958 DOID:1926
CON00069	Gaucher disease, type II, perinatal lethal form	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110960
CON00070	Gaucher disease, type III	GBA	neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110959 DOID:1926
CON00071	Gaucher disease, type IIIC	GBA	neuronopathic form, cardiovascular form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0112250

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