GlyCosmos Portal

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
CON00062	GM2-gangliosidosis, AB variant	GM2A	GM2 activator deficiency Tay-Sachs disease, AB variant	Lysosomal Storage Diseases (LSDs)	P17900	DOID:4795
CON00040	Morquio syndrome B	GLB1	MPS IVB Morquio-like syndrome Mucopolysaccharidosis type IVB	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0111391 DOID:0111392 DOID:12804
CON00051	GM1-gangliosidosis, type I	GLB1	infantile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080502 DOID:3322
CON00052	GM1-gangliosidosis, type II	GLB1	Derry syndrome juvenile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080501 DOID:3322
CON00053	GM1-gangliosidosis, type III	GLB1	adult form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080489 DOID:3322
CON00064	Fabry disease	GLA	Alpha-galactosidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06280	DOID:14499
CON00628	Myasthenia, congenital, with tubular aggregates 1	GFPT1	CMSTA1	Congenital Disorders of Glycosylation (CDGs)	Q06210	DOID:0110660
CON00359	GCS1-CDG	GCS1	CDG-IIb Congenital disorder of glycosylation, type IIb MOGS-CDG	Congenital Disorders of Glycosylation (CDGs)	Q13724	DOID:0070254
CON00066	Gaucher disease, type I	GBA	non-neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110957 DOID:1926
CON00067	Gaucher disease, type II	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926
CON00068	Gaucher disease, type II, neuronopathic form, classic type	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110958 DOID:1926
CON00069	Gaucher disease, type II, perinatal lethal form	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110960
CON00070	Gaucher disease, type III	GBA	neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110959 DOID:1926
CON00071	Gaucher disease, type IIIC	GBA	neuronopathic form, cardiovascular form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0112250
CON00402	GALNT3-CDG	GALNT3	Tumoral calcinosis, hyperphosphatemic, familial	Congenital Disorders of Glycosylation (CDGs)	Q14435	DOID:0111063
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
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
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
CON00006	Fucosidosis	FUCA1		Lysosomal Storage Diseases (LSDs)	P04066	DOID:14500

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