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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 **126 - 150** of **152** in total

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Concept UI	Disease Name ▼	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
CON00365	COG8-CDG	COG8	CDG-IIh COG8 deficiency Congenital disorder of glycosylation, type IIh	Congenital Disorders of Glycosylation (CDGs)	Q96MW5	DOID:0070260
CON00362	COG7-CDG	COG7	CDG-IIe Congenital disorder of glycosylation, type IIe	Congenital Disorders of Glycosylation (CDGs)	P83436	DOID:0070257
CON00627	COG6-CDG	COG6	CDG-IIL Congenital Disorder of Glycosylation, Type IIL	Congenital Disorders of Glycosylation (CDGs)	Q9Y2V7	DOID:0070264
CON00366	COG5-CDG	COG5	CDG-IIi Congenital disorder of glycosylation, type IIi	Congenital Disorders of Glycosylation (CDGs)	Q9UP83	DOID:0070261
CON00367	COG4-CDG	COG4	CDG-IIj Congenital disorder of glycosylation, type IIj	Congenital Disorders of Glycosylation (CDGs)	Q9H9E3	DOID:0070262
CON00364	COG1-CDG	COG1	CDG-IIg CDGII/COG1 Cerebrocostomandibular-like syndrome COG1 deficiency Congenital disorder of glycosylation, type IIg	Congenital Disorders of Glycosylation (CDGs)	Q8WTW3	DOID:0070259
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469	DOID:0060231
CON00011	Beta-mannosidosis	MANBA	Beta-mannosidase deficiency	Lysosomal Storage Diseases (LSDs)	O00462	DOID:3633
CON00388	B4GALT7-CDG	B4GALT7	Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome, progeroid type, 1 Galactosyltransferase 1 deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UBV7	DOID:0080738
CON00361	B4GALT1-CDG	B4GALT1	CDG-IId Congenital disorder of glycosylation, type IId	Congenital Disorders of Glycosylation (CDGs)	P15291	DOID:0070256
CON00404	B3GALTL-CDG	B3GALTL	Krause-Kivlin syndrome Peters anomaly with short limb dwarfism Peters-plus syndrome	Congenital Disorders of Glycosylation (CDGs)	Q6Y288	DOID:0080201
CON00398	Autosomal recessive multiple epiphyseal dysplasia	SLC26A2	Epiphyseal dysplasia, multiple, 4 (EDM4)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0070300
CON00005	Aspartylglucosaminuria	AGA		Lysosomal Storage Diseases (LSDs)	P20933	DOID:0050461
CON00010	Alpha-mannosidosis, type II (later-onset)	MAN2B1		Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00009	Alpha-mannosidosis, type I (early-onset)	MAN2B1		Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00008	Alpha-mannosidosis	MAN2B1	Alpha-mannosidase B deficiency	Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00396	Achondrogenesis type IB	SLC26A2	ACG1B Achondrogenesis, Fraccaro type	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0080055
CON00371	ATP6VOA2-CDG	ATP6V0A2	ATP6VOA2 defect (cutis laxa type II) Cutis laxa, autosomal recessive, type IIA (ARCL2A) Debre-Type cutis laxa V-ATPase a2 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q9Y487	DOID:0070134
CON00354	ALG9-CDG	ALG9	CDG-IL Congenital disorder of glycosylation, type IL	Congenital Disorders of Glycosylation (CDGs)	Q9H6U8	DOID:0080564
CON00350	ALG8-CDG	ALG8	CDG-Ih Congenital disorder of glycosylation, type Ih	Congenital Disorders of Glycosylation (CDGs)	Q9BVK2	DOID:0080560
CON00345	ALG6-CDG	ALG6	CDG-Ic Congenital disorder of glycosylation, type Ic	Congenital Disorders of Glycosylation (CDGs)	Q9Y672	DOID:0080555
CON00346	ALG3-CDG	ALG3	CDG-Id Congenital disorder of glycosylation, type Id	Congenital Disorders of Glycosylation (CDGs)	Q92685	DOID:0080556
CON00351	ALG2-CDG	ALG2	CDG-Ii Congenital disorder of glycosylation, type Ii	Congenital Disorders of Glycosylation (CDGs)	Q9H553	DOID:0050571 DOID:0080561
CON00624	ALG13-CDG	ALG13	CDG-Is Congenital Disorder of Glycosylation, Type Is	Congenital Disorders of Glycosylation (CDGs)	Q9NP73	DOID:0080470
CON00349	ALG12-CDG	ALG12	CDG-Ig Congenital disorder of glycosylation, type Ig	Congenital Disorders of Glycosylation (CDGs)	Q9BV10	DOID:0080559

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