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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
CON00100	Wolman disease	LIPA	Acid lipase deficiency Lysosomal acid lipase deficiency	Lysosomal Storage Diseases (LSDs)	P38571	DOID:0080217 DOID:14497
CON00401	Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)	C1GALT1C1	Galactosyltransferase Deficiency Tn syndrome (SOMATIC MUTATION)	Congenital Disorders of Glycosylation (CDGs)	Q96EU7	DOID:0080520
CON00632	Temtamy preaxial brachydactyly syndrome	CHSY1	TPBS	Congenital Disorders of Glycosylation (CDGs)	Q86X52	DOID:0050814
CON00057	Tay-Sachs disease, late-onset forms	HEXA	Juvenile/Chronic/Adult-onset	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00056	Tay-Sachs disease, infantile form	HEXA	Acute infantile	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00055	Tay-Sachs disease	HEXA	GM2-Gangliosidosis, B variant GM2-gangliosidosis, type I Hexosaminidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
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
CON00626	TMEM165-CDG	TMEM165	CDG-IIk Congenital Disorder of Glycosylation, Type IIk	Congenital Disorders of Glycosylation (CDGs)	Q9HC07	DOID:0070263
CON00633	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3	Spondyloepiphyseal dysplasia, Omani type	Congenital Disorders of Glycosylation (CDGs)	Q7LGC8	DOID:0050813
CON00393	Spondyloepimetaphyseal dysplasia, pakistani type	PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes SEMD, pakistani type	Congenital Disorders of Glycosylation (CDGs)	O95340	DOID:0050812
CON00017	Sialidosis type II, juvenile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00016	Sialidosis type II, infantile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00015	Sialidosis type II, congenital form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00014	Sialidosis type II	NEU1	Dysmorphic sialidosis Neuraminidase 1 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
CON00012	Sialidosis	NEU1	Mucolipidosis I Neuraminidase deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00021	Schindler disease, type II	NAGA	Kanzaki disease	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112319
CON00020	Schindler disease, type I	NAGA	infantile type	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112318
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
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
CON00060	Sandhoff disease, juvenile form	HEXB		Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323
CON00059	Sandhoff disease, infantile form	HEXB		Lysosomal Storage Diseases (LSDs)	P07686	DOID:3323

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