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
CON00369	TUSC3-CDG	TUSC3	Mental retardation, autosomal recessive 22 Mental retardation, autosomal recessive 7 (MRT7) Oligosaccharyltransferase TUSC3 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q13454
CON00091	Farber Lipogranulomatosis	ASAH1	Acid Ceramidase Deficiency	Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00092	Farber Lipogranulomatosis, type 1	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00093	Farber Lipogranulomatosis, type 2	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00094	Farber Lipogranulomatosis, type 3	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00095	Farber Lipogranulomatosis, type 4	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00096	Farber Lipogranulomatosis, type 5	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00359	GCS1-CDG	GCS1	CDG-IIb Congenital disorder of glycosylation, type IIb MOGS-CDG	Congenital Disorders of Glycosylation (CDGs)	Q13724
CON00402	GALNT3-CDG	GALNT3	Tumoral calcinosis, hyperphosphatemic, familial	Congenital Disorders of Glycosylation (CDGs)	Q14435
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