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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 **76 - 100** of **152** in total

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Concept UI	Disease Name	Gene Symbol ▲	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
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
CON00386	Nonaka myopathy	GNE	Distal myopathy with rimmed vacuoles (DMRV) Distal myopathy, Nonaka type Nonaka myopathy (NM)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223	DOID:0080718
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
CON00026	Mucolipidosis III (alpha/beta)	GNPTAB	ML-III Pseudo-Hurler Polydystrophy	Lysosomal Storage Diseases (LSDs)	Q3T906	DOID:0080071 DOID:3343
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
CON00045	Mucopolysaccharidosis VII	GUSB	MPS VII Sly syndrome	Lysosomal Storage Diseases (LSDs)	P08236	DOID:12803
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
CON00036	Sanfilippo syndrome C	HGSNAT	MPS IIIC Mucopolysaccharidosis type IIIC	Lysosomal Storage Diseases (LSDs)	Q68CP4	DOID:0111393
CON00032	Mucopolysaccharidosis II	IDS	Hunter syndrome MPS II	Lysosomal Storage Diseases (LSDs)	P22304	DOID:12799
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
CON00030	Hurler-Scheie syndrome	IDUA	MPS1-HS Mucopolysaccharidosis type IH/S	Lysosomal Storage Diseases (LSDs)	P35475	DOID:0111389 DOID:0111390 DOID:12802
CON00031	Scheie syndrome	IDUA	MPS1-S Mucopolysaccharidosis type IS Mucopolysaccharidosis type V Scheie's syndrome	Lysosomal Storage Diseases (LSDs)	P35475	DOID:0060222 DOID:0111389 DOID:0111390 DOID:12802
CON00383	LARGE-CDG (cong. muscular dystrophy spectrum)	LARGE	Congenital muscular dystrophy type 1D (CMD1D) Muscular dystrophy, congenital, type 1D (MDC1D) Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)	Congenital Disorders of Glycosylation (CDGs)	O95461	DOID:0110637
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3	DOID:0112361
CON00100	Wolman disease	LIPA	Acid lipase deficiency Lysosomal acid lipase deficiency	Lysosomal Storage Diseases (LSDs)	P38571	DOID:0080217 DOID:14497
CON00629	Mental retardation, autosomal recessive 15	MAN1B1	MRT15	Congenital Disorders of Glycosylation (CDGs)	Q9UKM7	DOID:0081097
CON00008	Alpha-mannosidosis	MAN2B1	Alpha-mannosidase B deficiency	Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00009	Alpha-mannosidosis, type I (early-onset)	MAN2B1		Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00010	Alpha-mannosidosis, type II (later-onset)	MAN2B1		Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413

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