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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
CON00030	Hurler-Scheie syndrome	IDUA	MPS1-HS Mucopolysaccharidosis type IH/S	Lysosomal Storage Diseases (LSDs)	P35475	DOID:0111389 DOID:0111390 DOID:12802
CON00045	Mucopolysaccharidosis VII	GUSB	MPS VII Sly syndrome	Lysosomal Storage Diseases (LSDs)	P08236	DOID:12803
CON00041	Mucopolysaccharidosis VI	ARSB	MPS VI, Maroteaux-Lamy syndrome	Lysosomal Storage Diseases (LSDs)	P15848	DOID:12800
CON00040	Morquio syndrome B	GLB1	MPS IVB Morquio-like syndrome Mucopolysaccharidosis type IVB	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0111391 DOID:0111392 DOID:12804
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
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
CON00026	Mucolipidosis III (alpha/beta)	GNPTAB	ML-III Pseudo-Hurler Polydystrophy	Lysosomal Storage Diseases (LSDs)	Q3T906	DOID:0080071 DOID:3343
CON00636	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	MCAHS1	Congenital Disorders of Glycosylation (CDGs)	O95427	DOID:0080138
CON00404	B3GALTL-CDG	B3GALTL	Krause-Kivlin syndrome Peters anomaly with short limb dwarfism Peters-plus syndrome	Congenital Disorders of Glycosylation (CDGs)	Q6Y288	DOID:0080201
CON00021	Schindler disease, type II	NAGA	Kanzaki disease	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112319
CON00057	Tay-Sachs disease, late-onset forms	HEXA	Juvenile/Chronic/Adult-onset	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00025	Mucolipidosis II (alpha/beta)	GNPTAB	I-cell disease ML-II N-Acetylglucosamine-1-phosphotransferase deficiency	Lysosomal Storage Diseases (LSDs)	Q3T906	DOID:0080070 DOID:3343
CON00032	Mucopolysaccharidosis II	IDS	Hunter syndrome MPS II	Lysosomal Storage Diseases (LSDs)	P22304	DOID:12799
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9	DOID:0070433
CON00029	Hurler syndrome	IDUA	Gargoylism, Hurler syndrome MPS1-H Mucopolysaccharidosis type IH Pfaundler-Hurler syndrome	Lysosomal Storage Diseases (LSDs)	P35475	DOID:0111389 DOID:0111390 DOID:12802
CON00401	Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)	C1GALT1C1	Galactosyltransferase Deficiency Tn syndrome (SOMATIC MUTATION)	Congenital Disorders of Glycosylation (CDGs)	Q96EU7	DOID:0080520
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:0111391 DOID:0111392 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	DOID:0080718
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

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