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 76 - 100 of 152 in total
Concept UI Disease Name Gene Symbol ▼ Disease Name Aliases Disease Type UniProt ID Disease IDs
CON00385 Hereditary inclusion body myopathy type 2 GNE
  • GNE-CDG (hereditary inclusion body myopathy)
  • Hereditary inclusion body myopathy type 2 (HIBM2)
  • Inclusion body myopathy 2, autosomal recessive (IBM2)
Congenital Disorders of Glycosylation (CDGs) Q9Y223
CON00386 Nonaka myopathy GNE
  • Distal myopathy with rimmed vacuoles (DMRV)
  • Distal myopathy, Nonaka type
  • Nonaka myopathy (NM)
Congenital Disorders of Glycosylation (CDGs) Q9Y223
CON00062 GM2-gangliosidosis, AB variant GM2A
  • GM2 activator deficiency
  • Tay-Sachs disease, AB variant
Lysosomal Storage Diseases (LSDs) P17900
CON00040 Morquio syndrome B GLB1
  • MPS IVB
  • Morquio-like syndrome
  • Mucopolysaccharidosis type IVB
Lysosomal Storage Diseases (LSDs) P16278
CON00051 GM1-gangliosidosis, type I GLB1
  • infantile form
Lysosomal Storage Diseases (LSDs) P16278
CON00052 GM1-gangliosidosis, type II GLB1
  • Derry syndrome
  • juvenile form
Lysosomal Storage Diseases (LSDs) P16278
CON00053 GM1-gangliosidosis, type III GLB1
  • adult form
Lysosomal Storage Diseases (LSDs) P16278
CON00064 Fabry disease GLA
  • Alpha-galactosidase A deficiency
Lysosomal Storage Diseases (LSDs) P06280
CON00628 Myasthenia, congenital, with tubular aggregates 1 GFPT1
  • CMSTA1
Congenital Disorders of Glycosylation (CDGs) Q06210
CON00359 GCS1-CDG GCS1
  • CDG-IIb
  • Congenital disorder of glycosylation, type IIb
  • MOGS-CDG
Congenital Disorders of Glycosylation (CDGs) Q13724
CON00066 Gaucher disease, type I GBA
  • non-neuronopathic form
Lysosomal Storage Diseases (LSDs) P04062
CON00067 Gaucher disease, type II GBA
Lysosomal Storage Diseases (LSDs) P04062
CON00068 Gaucher disease, type II, neuronopathic form, classic type GBA
Lysosomal Storage Diseases (LSDs) P04062
CON00069 Gaucher disease, type II, perinatal lethal form GBA
Lysosomal Storage Diseases (LSDs) P04062
CON00070 Gaucher disease, type III GBA
  • neuronopathic form
Lysosomal Storage Diseases (LSDs) P04062
CON00071 Gaucher disease, type IIIC GBA
  • neuronopathic form, cardiovascular form
Lysosomal Storage Diseases (LSDs) P04062
CON00402 GALNT3-CDG GALNT3
  • Tumoral calcinosis, hyperphosphatemic, familial
Congenital Disorders of Glycosylation (CDGs) Q14435
CON00039 Morquio syndrome A GALNS
  • Galactosamine-6-sulphatase deficiency
  • MPS IVA
  • Morquio's syndrome, classic form
  • Mucopolysaccharidosis type IVA
Lysosomal Storage Diseases (LSDs) P34059
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
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
CON00006 Fucosidosis FUCA1
Lysosomal Storage Diseases (LSDs) P04066

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