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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
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9	DOID:0070433
CON00636	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	MCAHS1	Congenital Disorders of Glycosylation (CDGs)	O95427	DOID:0080138
CON00005	Aspartylglucosaminuria	AGA		Lysosomal Storage Diseases (LSDs)	P20933	DOID:0050461
CON00006	Fucosidosis	FUCA1		Lysosomal Storage Diseases (LSDs)	P04066	DOID:14500
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
CON00011	Beta-mannosidosis	MANBA	Beta-mannosidase deficiency	Lysosomal Storage Diseases (LSDs)	O00462	DOID:3633
CON00012	Sialidosis	NEU1	Mucolipidosis I Neuraminidase deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00013	Sialidosis type I	NEU1	Cherry-red spot myoclonus syndrome Normosomatic sialidosis	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00014	Sialidosis type II	NEU1	Dysmorphic sialidosis Neuraminidase 1 deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00015	Sialidosis type II, congenital form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00016	Sialidosis type II, infantile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00017	Sialidosis type II, juvenile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
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
CON00023	Galactosialidosis	CTSA	Combined deficiency of sialidase AND beta galactosidase	Lysosomal Storage Diseases (LSDs)	P10619	DOID:0080540
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
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
CON00032	Mucopolysaccharidosis II	IDS	Hunter syndrome MPS II	Lysosomal Storage Diseases (LSDs)	P22304	DOID:12799
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
CON00035	Sanfilippo syndrome B	NAGLU	MPS IIIB Mucopolysaccharidosis type IIIB	Lysosomal Storage Diseases (LSDs)	P54802	DOID:0111394

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