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
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203
CON00631	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3		Congenital Disorders of Glycosylation (CDGs)	O94766
CON00632	Temtamy preaxial brachydactyly syndrome	CHSY1	TPBS	Congenital Disorders of Glycosylation (CDGs)	Q86X52
CON00633	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3	Spondyloepiphyseal dysplasia, Omani type	Congenital Disorders of Glycosylation (CDGs)	Q7LGC8
CON00634	Ehlers-Danlos syndrome, musculocontractural type	CHST14	Adducted thumb and clubfoot syndrome	Congenital Disorders of Glycosylation (CDGs)	Q8NCH0
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9
CON00636	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	MCAHS1	Congenital Disorders of Glycosylation (CDGs)	O95427
CON00005	Aspartylglucosaminuria	AGA		Lysosomal Storage Diseases (LSDs)	P20933
CON00006	Fucosidosis	FUCA1		Lysosomal Storage Diseases (LSDs)	P04066	DOID:14500
CON00008	Alpha-mannosidosis	MAN2B1	Alpha-mannosidase B deficiency	Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413