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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 |
|---|---|---|---|---|---|---|
| CON00086 | Niemann-Pick disease, type A | SMPD1 |
|
Lysosomal Storage Diseases (LSDs) | P17405 | |
| CON00397 | Neonatal osseous dysplasia I | SLC26A2 |
|
Congenital Disorders of Glycosylation (CDGs) | P50443 | |
| CON00628 | Myasthenia, congenital, with tubular aggregates 1 | GFPT1 |
|
Congenital Disorders of Glycosylation (CDGs) | Q06210 | |
| CON00379 | Muscular dystrophy, limb-girdle, type 2M | FKTN |
|
Congenital Disorders of Glycosylation (CDGs) | O75072 | |
| CON00382 | Muscular dystrophy, limb-girdle, type 2I | FKRP |
|
Congenital Disorders of Glycosylation (CDGs) | Q9H9S5 | |
| CON00381 | Muscular dystrophy, congenital, type 1C | FKRP |
|
Congenital Disorders of Glycosylation (CDGs) | Q9H9S5 | |
| CON00078 | Multiple sulfatase deficiency | SUMF1 |
|
Lysosomal Storage Diseases (LSDs) | Q8NBK3 | |
| CON00631 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | B3GAT3 |
|
Congenital Disorders of Glycosylation (CDGs) | O94766 | |
| CON00636 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | PIGN |
|
Congenital Disorders of Glycosylation (CDGs) | O95427 | |
| CON00045 | Mucopolysaccharidosis VII | GUSB |
|
Lysosomal Storage Diseases (LSDs) | P08236 | |
| CON00041 | Mucopolysaccharidosis VI | ARSB |
|
Lysosomal Storage Diseases (LSDs) | P15848 | |
| CON00032 | Mucopolysaccharidosis II | IDS |
|
Lysosomal Storage Diseases (LSDs) | P22304 | |
| CON00026 | Mucolipidosis III (alpha/beta) | GNPTAB |
|
Lysosomal Storage Diseases (LSDs) | Q3T906 | |
| CON00025 | Mucolipidosis II (alpha/beta) | GNPTAB |
|
Lysosomal Storage Diseases (LSDs) | Q3T906 | |
| CON00040 | Morquio syndrome B | GLB1 |
|
Lysosomal Storage Diseases (LSDs) | P16278 | |
| CON00039 | Morquio syndrome A | GALNS |
|
Lysosomal Storage Diseases (LSDs) | P34059 | |
| CON00082 | Metachromatic leukodystrophy, juvenile form | ARSA |
|
Lysosomal Storage Diseases (LSDs) | P15289 | |
| CON00081 | Metachromatic leukodystrophy, infantile form | ARSA |
|
Lysosomal Storage Diseases (LSDs) | P15289 | |
| CON00084 | Metachromatic leukodystrophy, due to saposin B deficiency | PSAP |
|
Lysosomal Storage Diseases (LSDs) | P07602 | |
| CON00083 | Metachromatic leukodystrophy, adult form | ARSA |
|
Lysosomal Storage Diseases (LSDs) | P15289 | |
| CON00080 | Metachromatic leukodystrophy | ARSA |
|
Lysosomal Storage Diseases (LSDs) | P15289 | |
| CON00629 | Mental retardation, autosomal recessive 15 | MAN1B1 |
|
Congenital Disorders of Glycosylation (CDGs) | Q9UKM7 | |
| CON00630 | Mental retardation, autosomal recessive 12 | ST3GAL3 |
|
Congenital Disorders of Glycosylation (CDGs) | Q11203 | |
| CON00042 | Maroteaux-Lamy syndrome, severe form | ARSB |
|
Lysosomal Storage Diseases (LSDs) | P15848 | |
| CON00043 | Maroteaux-Lamy syndrome, mild form | ARSB |
|
Lysosomal Storage Diseases (LSDs) | P15848 |
