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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 |
| Concept UI | Disease Name | Gene Symbol | Disease Name Aliases | Disease Type | UniProt ID ▼ | Disease IDs |
|---|---|---|---|---|---|---|
| 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 |
|
Lysosomal Storage Diseases (LSDs) | P04062 | |
| CON00071 | Gaucher disease, type IIIC | GBA |
|
Lysosomal Storage Diseases (LSDs) | P04062 | |
| CON00383 | LARGE-CDG (cong. muscular dystrophy spectrum) | LARGE |
|
Congenital Disorders of Glycosylation (CDGs) | O95461 | |
| CON00636 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | PIGN |
|
Congenital Disorders of Glycosylation (CDGs) | O95427 | |
| CON00393 | Spondyloepimetaphyseal dysplasia, pakistani type | PAPSS2 |
|
Congenital Disorders of Glycosylation (CDGs) | O95340 | |
| CON00631 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | B3GAT3 |
|
Congenital Disorders of Glycosylation (CDGs) | O94766 | |
| CON00348 | MPDU1-CDG | MPDU1 |
|
Congenital Disorders of Glycosylation (CDGs) | O75352 | |
| CON00378 | Fukuyama congenital muscular dystrophy | FKTN |
|
Congenital Disorders of Glycosylation (CDGs) | O75072 | |
| CON00379 | Muscular dystrophy, limb-girdle, type 2M | FKTN |
|
Congenital Disorders of Glycosylation (CDGs) | O75072 | |
| CON00380 | Cardiomyopathy, dilated, 1X | FKTN |
|
Congenital Disorders of Glycosylation (CDGs) | O75072 | |
| CON00347 | DPM1-CDG | DPM1 |
|
Congenital Disorders of Glycosylation (CDGs) | O60762 | |
| CON00409 | Lysyl hydroxylase 3 deficiency | PLOD3 |
|
Congenital Disorders of Glycosylation (CDGs) | O60568 | |
| CON00343 | PMM2-CDG | PMM2 |
|
Congenital Disorders of Glycosylation (CDGs) | O15305 | |
| 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 | |
| CON00431 | PMM2-CDG, adult stable disability stage | PMM2 |
|
Congenital Disorders of Glycosylation (CDGs) | O15305 | |
| CON00089 | Niemann-Pick disease, type C1 | NPC1 |
|
Lysosomal Storage Diseases (LSDs) | O15118 | |
| CON00008 | Alpha-mannosidosis | MAN2B1 |
|
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 | |
| CON00408 | Bruck syndrome 2 | PLOD2 |
|
Congenital Disorders of Glycosylation (CDGs) | O00469 | |
| CON00011 | Beta-mannosidosis | MANBA |
|
Lysosomal Storage Diseases (LSDs) | O00462 |
