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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 **1 - 25** of **152** in total

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Concept UI	Disease Name	Gene Symbol	Disease Name Aliases ▼	Disease Type	UniProt ID	Disease IDs
CON00098	Combined saposin deficiency	PSAP	prosaposin deficiency saposin deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:0111330
CON00066	Gaucher disease, type I	GBA	non-neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110957 DOID:1926
CON00087	Niemann-Pick disease, type B	SMPD1	non-neurological type	Lysosomal Storage Diseases (LSDs)	P17405	DOID:0070112
CON00071	Gaucher disease, type IIIC	GBA	neuronopathic form, cardiovascular form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0112250
CON00070	Gaucher disease, type III	GBA	neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:0110959 DOID:1926
CON00086	Niemann-Pick disease, type A	SMPD1	neurological type	Lysosomal Storage Diseases (LSDs)	P17405	DOID:0070111
CON00020	Schindler disease, type I	NAGA	infantile type	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112318
CON00051	GM1-gangliosidosis, type I	GLB1	infantile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080502 DOID:3322
CON00053	GM1-gangliosidosis, type III	GLB1	adult form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080489 DOID:3322
CON00402	GALNT3-CDG	GALNT3	Tumoral calcinosis, hyperphosphatemic, familial	Congenital Disorders of Glycosylation (CDGs)	Q14435	DOID:0111063
CON00632	Temtamy preaxial brachydactyly syndrome	CHSY1	TPBS	Congenital Disorders of Glycosylation (CDGs)	Q86X52	DOID:0050814
CON00633	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3	Spondyloepiphyseal dysplasia, Omani type	Congenital Disorders of Glycosylation (CDGs)	Q7LGC8	DOID:0050813
CON00084	Metachromatic leukodystrophy, due to saposin B deficiency	PSAP	Sphingolipid activator protein 1 deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:10581
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3	DOID:0112361
CON00414	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PIGA	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Congenital Disorders of Glycosylation (CDGs)	P37287	DOID:0060284
CON00089	Niemann-Pick disease, type C1	NPC1	Niemann-Pick disease, type D, included	Lysosomal Storage Diseases (LSDs)	O15118	DOID:0070113
CON00376	POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)	POMT1,POMT2	Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2) Walker-Warburg syndrome (WWS)	Congenital Disorders of Glycosylation (CDGs)
CON00377	POMGNT1-CDG (cong. muscular dystrophy spectrum)	POMGNT1	Muscle-eye-brain disease (MEB) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)	Congenital Disorders of Glycosylation (CDGs)	Q8WZA1	DOID:0050560 DOID:0111236
CON00012	Sialidosis	NEU1	Mucolipidosis I Neuraminidase deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00369	TUSC3-CDG	TUSC3	Mental retardation, autosomal recessive 22 Mental retardation, autosomal recessive 7 (MRT7) Oligosaccharyltransferase TUSC3 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q13454	DOID:0081183
CON00391	Macular corneal dystrophy	CHST6	Macular corneal dystrophy Type I Macular corneal dystrophy Type II	Congenital Disorders of Glycosylation (CDGs)	Q9GZX3	DOID:2565
CON00078	Multiple sulfatase deficiency	SUMF1	MSD Multiple sulfatase deficiency disease	Lysosomal Storage Diseases (LSDs)	Q8NBK3	DOID:0050441
CON00629	Mental retardation, autosomal recessive 15	MAN1B1	MRT15	Congenital Disorders of Glycosylation (CDGs)	Q9UKM7	DOID:0081097
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203	DOID:0081180
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

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