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 101 - 125 of 152 in total
Concept UI Disease Name Gene Symbol Disease Name Aliases Disease Type UniProt ID ▼ Disease IDs
CON00037 Sanfilippo syndrome D GNS
  • MPS IIID
  • Mucopolysaccharidosis type IIID
Lysosomal Storage Diseases (LSDs) P15586
CON00361 B4GALT1-CDG B4GALT1
  • CDG-IId
  • Congenital disorder of glycosylation, type IId
Congenital Disorders of Glycosylation (CDGs) P15291
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
CON00384 Duchenne muscular dystrophy DMD
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Congenital Disorders of Glycosylation (CDGs) P11532
CON00023 Galactosialidosis CTSA
  • Combined deficiency of sialidase AND beta galactosidase
Lysosomal Storage Diseases (LSDs) P10619
CON00103 Pompe disease GAA
  • GSD type II
  • Lysosomal alpha 1,4 Glucosidase Deficiency Disease
Lysosomal Storage Diseases (LSDs) P10253
CON00104 Pompe disease, infantile-onset form GAA
Lysosomal Storage Diseases (LSDs) P10253
CON00105 Pompe disease, late-onset form GAA
Lysosomal Storage Diseases (LSDs) P10253
CON00045 Mucopolysaccharidosis VII GUSB
  • MPS VII
  • Sly syndrome
Lysosomal Storage Diseases (LSDs) P08236
CON00058 Sandhoff disease HEXB
  • GM2-gangliosidosis, type II
Lysosomal Storage Diseases (LSDs) P07686
CON00059 Sandhoff disease, infantile form HEXB
Lysosomal Storage Diseases (LSDs) P07686
CON00060 Sandhoff disease, juvenile form HEXB
Lysosomal Storage Diseases (LSDs) P07686
CON00061 Sandhoff disease, adult form HEXB
Lysosomal Storage Diseases (LSDs) P07686
CON00072 Gaucher disease, atypical, due to saposin C deficiency PSAP
Lysosomal Storage Diseases (LSDs) P07602
CON00084 Metachromatic leukodystrophy, due to saposin B deficiency PSAP
  • Sphingolipid activator protein 1 deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00098 Combined saposin deficiency PSAP
  • prosaposin deficiency
  • saposin deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00055 Tay-Sachs disease HEXA
  • GM2-Gangliosidosis, B variant
  • GM2-gangliosidosis, type I
  • Hexosaminidase A deficiency
Lysosomal Storage Diseases (LSDs) P06865
CON00056 Tay-Sachs disease, infantile form HEXA
  • Acute infantile
Lysosomal Storage Diseases (LSDs) P06865
CON00057 Tay-Sachs disease, late-onset forms HEXA
  • Juvenile/Chronic/Adult-onset
Lysosomal Storage Diseases (LSDs) P06865
CON00064 Fabry disease GLA
  • Alpha-galactosidase A deficiency
Lysosomal Storage Diseases (LSDs) P06280
CON00006 Fucosidosis FUCA1
Lysosomal Storage Diseases (LSDs) P04066
CON00066 Gaucher disease, type I GBA
  • non-neuronopathic form
Lysosomal Storage Diseases (LSDs) P04062

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