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 126 - 150 of 152 in total
Concept UI Disease Name Gene Symbol ▼ Disease Name Aliases Disease Type UniProt ID Disease IDs
CON00631 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Congenital Disorders of Glycosylation (CDGs) O94766
CON00404 B3GALTL-CDG B3GALTL
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
  • Peters-plus syndrome
Congenital Disorders of Glycosylation (CDGs) Q6Y288
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
CON00091 Farber Lipogranulomatosis ASAH1
  • Acid Ceramidase Deficiency
Lysosomal Storage Diseases (LSDs) Q13510
CON00092 Farber Lipogranulomatosis, type 1 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00093 Farber Lipogranulomatosis, type 2 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00094 Farber Lipogranulomatosis, type 3 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00095 Farber Lipogranulomatosis, type 4 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00096 Farber Lipogranulomatosis, type 5 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00041 Mucopolysaccharidosis VI ARSB
  • MPS VI, Maroteaux-Lamy syndrome
Lysosomal Storage Diseases (LSDs) P15848
CON00042 Maroteaux-Lamy syndrome, severe form ARSB
Lysosomal Storage Diseases (LSDs) P15848
CON00043 Maroteaux-Lamy syndrome, mild form ARSB
Lysosomal Storage Diseases (LSDs) P15848
CON00044 Maroteaux-Lamy syndrome, intermediate form ARSB
Lysosomal Storage Diseases (LSDs) P15848
CON00080 Metachromatic leukodystrophy ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00081 Metachromatic leukodystrophy, infantile form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00082 Metachromatic leukodystrophy, juvenile form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00083 Metachromatic leukodystrophy, adult form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00354 ALG9-CDG ALG9
  • CDG-IL
  • Congenital disorder of glycosylation, type IL
Congenital Disorders of Glycosylation (CDGs) Q9H6U8
CON00350 ALG8-CDG ALG8
  • CDG-Ih
  • Congenital disorder of glycosylation, type Ih
Congenital Disorders of Glycosylation (CDGs) Q9BVK2
CON00345 ALG6-CDG ALG6
  • CDG-Ic
  • Congenital disorder of glycosylation, type Ic
Congenital Disorders of Glycosylation (CDGs) Q9Y672
CON00346 ALG3-CDG ALG3
  • CDG-Id
  • Congenital disorder of glycosylation, type Id
Congenital Disorders of Glycosylation (CDGs) Q92685
CON00351 ALG2-CDG ALG2
  • CDG-Ii
  • Congenital disorder of glycosylation, type Ii
Congenital Disorders of Glycosylation (CDGs) Q9H553
CON00624 ALG13-CDG ALG13
  • CDG-Is
  • Congenital Disorder of Glycosylation, Type Is
Congenital Disorders of Glycosylation (CDGs) Q9NP73
CON00349 ALG12-CDG ALG12
  • CDG-Ig
  • Congenital disorder of glycosylation, type Ig
Congenital Disorders of Glycosylation (CDGs) Q9BV10
CON00621 ALG11-CDG ALG11
  • CDG-Ip
  • Congenital Disorder of Glycosylation, Type Ip
Congenital Disorders of Glycosylation (CDGs) Q2TAA5

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