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 1 - 25 of 152 in total
Concept UI Disease Name Gene Symbol Disease Name Aliases Disease Type UniProt ID Disease IDs ▼
CON00062 GM2-gangliosidosis, AB variant GM2A
  • GM2 activator deficiency
  • Tay-Sachs disease, AB variant
Lysosomal Storage Diseases (LSDs) P17900
CON00011 Beta-mannosidosis MANBA
  • Beta-mannosidase deficiency
Lysosomal Storage Diseases (LSDs) O00462
CON00008 Alpha-mannosidosis MAN2B1
  • Alpha-mannosidase B deficiency
Lysosomal Storage Diseases (LSDs) O00754
CON00009 Alpha-mannosidosis, type I (early-onset) MAN2B1
Lysosomal Storage Diseases (LSDs) O00754
CON00010 Alpha-mannosidosis, type II (later-onset) MAN2B1
Lysosomal Storage Diseases (LSDs) O00754
CON00012 Sialidosis NEU1
  • Mucolipidosis I
  • Neuraminidase deficiency
Lysosomal Storage Diseases (LSDs) Q99519
CON00013 Sialidosis type I NEU1
  • Cherry-red spot myoclonus syndrome
  • Normosomatic sialidosis
Lysosomal Storage Diseases (LSDs) Q99519
CON00014 Sialidosis type II NEU1
  • Dysmorphic sialidosis
  • Neuraminidase 1 deficiency
Lysosomal Storage Diseases (LSDs) Q99519
CON00015 Sialidosis type II, congenital form NEU1
Lysosomal Storage Diseases (LSDs) Q99519
CON00016 Sialidosis type II, infantile form NEU1
Lysosomal Storage Diseases (LSDs) Q99519
CON00017 Sialidosis type II, juvenile form NEU1
Lysosomal Storage Diseases (LSDs) Q99519
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
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
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
CON00391 Macular corneal dystrophy CHST6
  • Macular corneal dystrophy Type I
  • Macular corneal dystrophy Type II
Congenital Disorders of Glycosylation (CDGs) Q9GZX3
CON00067 Gaucher disease, type II GBA
Lysosomal Storage Diseases (LSDs) P04062
CON00395 Diastrophic dysplasia SLC26A2
  • Diastrophic dwarfism
Congenital Disorders of Glycosylation (CDGs) P50443
CON00006 Fucosidosis FUCA1
Lysosomal Storage Diseases (LSDs) P04066

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