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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 **101 - 125** of **152** in total

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Concept UI	Disease Name	Gene Symbol	Disease Name Aliases ▼	Disease Type	UniProt ID	Disease IDs
CON00627	COG6-CDG	COG6	CDG-IIL Congenital Disorder of Glycosylation, Type IIL	Congenital Disorders of Glycosylation (CDGs)	Q9Y2V7	DOID:0070264
CON00373	SEC23B-CDG	SEC23B	CDA II Congenital dyserythropoietic anaemia, type II Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)	Congenital Disorders of Glycosylation (CDGs)	Q15437	DOID:0111397 DOID:0111399 DOID:0111401 DOID:1338
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
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568
CON00011	Beta-mannosidosis	MANBA	Beta-mannosidase deficiency	Lysosomal Storage Diseases (LSDs)	O00462	DOID:3633
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469	DOID:0060231
CON00415	PIGM-CDG	PIGM	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9H3S5
CON00397	Neonatal osseous dysplasia I	SLC26A2	Atelosteogenesis, type II (AOII)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0050648
CON00412	ST3GAL5-CDG	SIAT9	Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UNP4	DOID:0060470
CON00008	Alpha-mannosidosis	MAN2B1	Alpha-mannosidase B deficiency	Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00064	Fabry disease	GLA	Alpha-galactosidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06280	DOID:14499
CON00634	Ehlers-Danlos syndrome, musculocontractural type	CHST14	Adducted thumb and clubfoot syndrome	Congenital Disorders of Glycosylation (CDGs)	Q8NCH0	DOID:0080736
CON00056	Tay-Sachs disease, infantile form	HEXA	Acute infantile	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00100	Wolman disease	LIPA	Acid lipase deficiency Lysosomal acid lipase deficiency	Lysosomal Storage Diseases (LSDs)	P38571	DOID:0080217 DOID:14497
CON00091	Farber Lipogranulomatosis	ASAH1	Acid Ceramidase Deficiency	Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
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
CON00396	Achondrogenesis type IB	SLC26A2	ACG1B Achondrogenesis, Fraccaro type	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0080055
CON00005	Aspartylglucosaminuria	AGA		Lysosomal Storage Diseases (LSDs)	P20933	DOID:0050461
CON00006	Fucosidosis	FUCA1		Lysosomal Storage Diseases (LSDs)	P04066	DOID:14500
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
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
CON00042	Maroteaux-Lamy syndrome, severe form	ARSB		Lysosomal Storage Diseases (LSDs)	P15848	DOID:12800

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