GDGDB is a database of glycan-related diseases and their responsible genes.
Source | Last Updated |
---|---|
Glyco-Disease Genes Database (GDGDB) | January 25, 2017 |
Concept UI | Disease Name | Gene Symbol | Disease Name Aliases ▼ | Disease Type | UniProt ID | Disease IDs |
---|---|---|---|---|---|---|
CON00043 | Maroteaux-Lamy syndrome, mild form | ARSB |
|
Lysosomal Storage Diseases (LSDs) | P15848 | |
CON00044 | Maroteaux-Lamy syndrome, intermediate form | ARSB |
|
Lysosomal Storage Diseases (LSDs) | P15848 | |
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 | |
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 | |
CON00072 | Gaucher disease, atypical, due to saposin C deficiency | PSAP |
|
Lysosomal Storage Diseases (LSDs) | P07602 | |
CON00074 | Krabbe disease, infantile form | GALC |
|
Lysosomal Storage Diseases (LSDs) | P54803 | |
CON00075 | Krabbe disease, late-onset form | GALC |
|
Lysosomal Storage Diseases (LSDs) | P54803 | |
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 | |
CON00090 | Niemann-Pick disease, type C2 | NPC2 |
|
Lysosomal Storage Diseases (LSDs) | P61916 | |
CON00092 | Farber Lipogranulomatosis, type 1 | ASAH1 |
|
Lysosomal Storage Diseases (LSDs) | Q13510 | |
CON00093 | Farber Lipogranulomatosis, type 2 | ASAH1 |
|
Lysosomal Storage Diseases (LSDs) | Q13510 | |
CON00094 | Farber Lipogranulomatosis, type 3 | ASAH1 |
|
Lysosomal Storage Diseases (LSDs) | Q13510 | |
CON00095 | Farber Lipogranulomatosis, type 4 | ASAH1 |
|
Lysosomal Storage Diseases (LSDs) | Q13510 | |
CON00096 | Farber Lipogranulomatosis, type 5 | ASAH1 |
|
Lysosomal Storage Diseases (LSDs) | Q13510 | |
CON00104 | Pompe disease, infantile-onset form | GAA |
|
Lysosomal Storage Diseases (LSDs) | P10253 | |
CON00105 | Pompe disease, late-onset form | GAA |
|
Lysosomal Storage Diseases (LSDs) | P10253 | |
CON00429 | PMM2-CDG, infantile multisystem stage | PMM2 |
|
Congenital Disorders of Glycosylation (CDGs) | O15305 | |
CON00430 | PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage | PMM2 |
|
Congenital Disorders of Glycosylation (CDGs) | O15305 |
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Last updated: August 19, 2024