GlyCosmos Portal

Glyco-Disease Genes Database (GDGDB)

GDGDB is a database of glycan-related diseases and their responsible genes.

Database	Last Updated
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

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
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:1338
CON00393	Spondyloepimetaphyseal dysplasia, pakistani type	PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes SEMD, pakistani type	Congenital Disorders of Glycosylation (CDGs)	O95340
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
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469
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
CON00412	ST3GAL5-CDG	SIAT9	Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UNP4
CON00008	Alpha-mannosidosis	MAN2B1	Alpha-mannosidase B deficiency	Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413