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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 ▲
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
CON00034	Sanfilippo syndrome A	SGSH	MPS IIIA Mucopolysaccharidosis type IIIA	Lysosomal Storage Diseases (LSDs)	P51688	DOID:0111393 DOID:0111394 DOID:0111395 DOID:0111402 DOID:12801
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
CON00036	Sanfilippo syndrome C	HGSNAT	MPS IIIC Mucopolysaccharidosis type IIIC	Lysosomal Storage Diseases (LSDs)	Q68CP4	DOID:0111393
CON00035	Sanfilippo syndrome B	NAGLU	MPS IIIB Mucopolysaccharidosis type IIIB	Lysosomal Storage Diseases (LSDs)	P54802	DOID:0111394
CON00373	SEC23B-CDG	SEC23B	CDA II Congenital dyserythropoietic anaemia, type II Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)	Congenital Disorders of Glycosylation (CDGs)	Q15437	DOID:0111397 DOID:0111399 DOID:0111401 DOID:1338
CON00071	Gaucher disease, type IIIC	GBA	neuronopathic form, cardiovascular form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0112250
CON00020	Schindler disease, type I	NAGA	infantile type	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112318
CON00021	Schindler disease, type II	NAGA	Kanzaki disease	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112319
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3	DOID:0112361
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
CON00084	Metachromatic leukodystrophy, due to saposin B deficiency	PSAP	Sphingolipid activator protein 1 deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:10581
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
CON00384	Duchenne muscular dystrophy	DMD	DMD Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Congenital Disorders of Glycosylation (CDGs)	P11532	DOID:11723
CON00032	Mucopolysaccharidosis II	IDS	Hunter syndrome MPS II	Lysosomal Storage Diseases (LSDs)	P22304	DOID:12799
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

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