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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 **101 - 125** of **152** in total

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Concept UI	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID ▼	Disease IDs
CON00037	Sanfilippo syndrome D	GNS	MPS IIID Mucopolysaccharidosis type IIID	Lysosomal Storage Diseases (LSDs)	P15586	DOID:0111393 DOID:0111394 DOID:0111395 DOID:0111402 DOID:12801
CON00361	B4GALT1-CDG	B4GALT1	CDG-IId Congenital disorder of glycosylation, type IId	Congenital Disorders of Glycosylation (CDGs)	P15291	DOID:0070256
CON00080	Metachromatic leukodystrophy	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00081	Metachromatic leukodystrophy, infantile form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00082	Metachromatic leukodystrophy, juvenile form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00083	Metachromatic leukodystrophy, adult form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00384	Duchenne muscular dystrophy	DMD	DMD Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Congenital Disorders of Glycosylation (CDGs)	P11532	DOID:11723
CON00023	Galactosialidosis	CTSA	Combined deficiency of sialidase AND beta galactosidase	Lysosomal Storage Diseases (LSDs)	P10619	DOID:0080540
CON00103	Pompe disease	GAA	GSD type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease	Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00104	Pompe disease, infantile-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00105	Pompe disease, late-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00045	Mucopolysaccharidosis VII	GUSB	MPS VII Sly syndrome	Lysosomal Storage Diseases (LSDs)	P08236	DOID:12803
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
CON00072	Gaucher disease, atypical, due to saposin C deficiency	PSAP		Lysosomal Storage Diseases (LSDs)	P07602	DOID:0110961
CON00084	Metachromatic leukodystrophy, due to saposin B deficiency	PSAP	Sphingolipid activator protein 1 deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:10581
CON00098	Combined saposin deficiency	PSAP	prosaposin deficiency saposin deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:0111330
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
CON00064	Fabry disease	GLA	Alpha-galactosidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06280	DOID:14499
CON00006	Fucosidosis	FUCA1		Lysosomal Storage Diseases (LSDs)	P04066	DOID:14500
CON00066	Gaucher disease, type I	GBA	non-neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110957 DOID:1926

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