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 ▲
CON00039 Morquio syndrome A GALNS
  • Galactosamine-6-sulphatase deficiency
  • MPS IVA
  • Morquio's syndrome, classic form
  • Mucopolysaccharidosis type IVA
Lysosomal Storage Diseases (LSDs) P34059
CON00040 Morquio syndrome B GLB1
  • MPS IVB
  • Morquio-like syndrome
  • Mucopolysaccharidosis type IVB
Lysosomal Storage Diseases (LSDs) P16278
CON00034 Sanfilippo syndrome A SGSH
  • MPS IIIA
  • Mucopolysaccharidosis type IIIA
Lysosomal Storage Diseases (LSDs) P51688
CON00037 Sanfilippo syndrome D GNS
  • MPS IIID
  • Mucopolysaccharidosis type IIID
Lysosomal Storage Diseases (LSDs) P15586
CON00036 Sanfilippo syndrome C HGSNAT
  • MPS IIIC
  • Mucopolysaccharidosis type IIIC
Lysosomal Storage Diseases (LSDs) Q68CP4
CON00035 Sanfilippo syndrome B NAGLU
  • MPS IIIB
  • Mucopolysaccharidosis type IIIB
Lysosomal Storage Diseases (LSDs) P54802
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
CON00071 Gaucher disease, type IIIC GBA
  • neuronopathic form, cardiovascular form
Lysosomal Storage Diseases (LSDs) P04062
CON00020 Schindler disease, type I NAGA
  • infantile type
Lysosomal Storage Diseases (LSDs) P17050
CON00021 Schindler disease, type II NAGA
  • Kanzaki disease
Lysosomal Storage Diseases (LSDs) P17050
CON00405 LFNG-CDG LFNG
  • SCDO3
  • Spondylocostal dysostosis 3, autosomal recessive
Congenital Disorders of Glycosylation (CDGs) Q8NES3
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
CON00084 Metachromatic leukodystrophy, due to saposin B deficiency PSAP
  • Sphingolipid activator protein 1 deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00073 Krabbe disease GALC
  • Galactosylceramide beta-galactosidase deficiency
  • Globoid cell leukodystrophy
  • Krabbe leukodystrophy
  • Leukodystrophy, globoid cell
Lysosomal Storage Diseases (LSDs) P54803
CON00074 Krabbe disease, infantile form GALC
Lysosomal Storage Diseases (LSDs) P54803
CON00075 Krabbe disease, late-onset form GALC
Lysosomal Storage Diseases (LSDs) P54803
CON00384 Duchenne muscular dystrophy DMD
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Congenital Disorders of Glycosylation (CDGs) P11532
CON00032 Mucopolysaccharidosis II IDS
  • Hunter syndrome
  • MPS II
Lysosomal Storage Diseases (LSDs) P22304
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

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