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
CON00344 MPI-CDG MPI
  • CDG-Ib
  • Congenital disorder of glycosylation, type Ib
  • Mannosephosphate isomerase deficiency
  • Protein-losing enteropathy-hepatic fibrosis syndrome
  • Saguenay-Lac Saint-Jean syndrome
Congenital Disorders of Glycosylation (CDGs) P34949
CON00343 PMM2-CDG PMM2
  • CDG-Ia
  • Congenital disorder of glycosylation, type Ia
  • Jaeken syndrome
  • Phosphomannomutase 2 deficiency
Congenital Disorders of Glycosylation (CDGs) O15305
CON00105 Pompe disease, late-onset form GAA
Lysosomal Storage Diseases (LSDs) P10253
CON00104 Pompe disease, infantile-onset form GAA
Lysosomal Storage Diseases (LSDs) P10253
CON00103 Pompe disease GAA
  • GSD type II
  • Lysosomal alpha 1,4 Glucosidase Deficiency Disease
Lysosomal Storage Diseases (LSDs) P10253
CON00100 Wolman disease LIPA
  • Acid lipase deficiency
  • Lysosomal acid lipase deficiency
Lysosomal Storage Diseases (LSDs) P38571
CON00098 Combined saposin deficiency PSAP
  • prosaposin deficiency
  • saposin deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00096 Farber Lipogranulomatosis, type 5 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00095 Farber Lipogranulomatosis, type 4 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00094 Farber Lipogranulomatosis, type 3 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00093 Farber Lipogranulomatosis, type 2 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00092 Farber Lipogranulomatosis, type 1 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00091 Farber Lipogranulomatosis ASAH1
  • Acid Ceramidase Deficiency
Lysosomal Storage Diseases (LSDs) Q13510
CON00090 Niemann-Pick disease, type C2 NPC2
Lysosomal Storage Diseases (LSDs) P61916
CON00089 Niemann-Pick disease, type C1 NPC1
  • Niemann-Pick disease, type D, included
Lysosomal Storage Diseases (LSDs) O15118
CON00087 Niemann-Pick disease, type B SMPD1
  • non-neurological type
Lysosomal Storage Diseases (LSDs) P17405
CON00086 Niemann-Pick disease, type A SMPD1
  • neurological type
Lysosomal Storage Diseases (LSDs) P17405
CON00084 Metachromatic leukodystrophy, due to saposin B deficiency PSAP
  • Sphingolipid activator protein 1 deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00083 Metachromatic leukodystrophy, adult form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00082 Metachromatic leukodystrophy, juvenile form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00081 Metachromatic leukodystrophy, infantile form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00080 Metachromatic leukodystrophy ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00078 Multiple sulfatase deficiency SUMF1
  • MSD
  • Multiple sulfatase deficiency disease
Lysosomal Storage Diseases (LSDs) Q8NBK3
CON00075 Krabbe disease, late-onset form GALC
Lysosomal Storage Diseases (LSDs) P54803
CON00074 Krabbe disease, infantile form GALC
Lysosomal Storage Diseases (LSDs) P54803

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