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
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3
CON00383	LARGE-CDG (cong. muscular dystrophy spectrum)	LARGE	Congenital muscular dystrophy type 1D (CMD1D) Muscular dystrophy, congenital, type 1D (MDC1D) Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)	Congenital Disorders of Glycosylation (CDGs)	O95461
CON00075	Krabbe disease, late-onset form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00074	Krabbe disease, infantile form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00073	Krabbe disease	GALC	Galactosylceramide beta-galactosidase deficiency Globoid cell leukodystrophy Krabbe leukodystrophy Leukodystrophy, globoid cell	Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9
CON00030	Hurler-Scheie syndrome	IDUA	MPS1-HS Mucopolysaccharidosis type IH/S	Lysosomal Storage Diseases (LSDs)	P35475	DOID:12802
CON00029	Hurler syndrome	IDUA	Gargoylism, Hurler syndrome MPS1-H Mucopolysaccharidosis type IH Pfaundler-Hurler syndrome	Lysosomal Storage Diseases (LSDs)	P35475	DOID:12802
CON00385	Hereditary inclusion body myopathy type 2	GNE	GNE-CDG (hereditary inclusion body myopathy) Hereditary inclusion body myopathy type 2 (HIBM2) Inclusion body myopathy 2, autosomal recessive (IBM2)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223