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 |
---|---|---|---|---|---|---|
CON00397 | Neonatal osseous dysplasia I | SLC26A2 |
|
Congenital Disorders of Glycosylation (CDGs) | P50443 | |
CON00086 | Niemann-Pick disease, type A | SMPD1 |
|
Lysosomal Storage Diseases (LSDs) | P17405 | |
CON00087 | Niemann-Pick disease, type B | SMPD1 |
|
Lysosomal Storage Diseases (LSDs) | P17405 | |
CON00089 | Niemann-Pick disease, type C1 | NPC1 |
|
Lysosomal Storage Diseases (LSDs) | O15118 | |
CON00090 | Niemann-Pick disease, type C2 | NPC2 |
|
Lysosomal Storage Diseases (LSDs) | P61916 | |
CON00386 | Nonaka myopathy | GNE |
|
Congenital Disorders of Glycosylation (CDGs) | Q9Y223 | |
CON00625 | PGM1-CDG | PGM1 |
|
Congenital Disorders of Glycosylation (CDGs) | P36871 | |
CON00415 | PIGM-CDG | PIGM |
|
Congenital Disorders of Glycosylation (CDGs) | Q9H3S5 | |
CON00343 | PMM2-CDG | PMM2 |
|
Congenital Disorders of Glycosylation (CDGs) | O15305 | |
CON00431 | PMM2-CDG, adult stable disability stage | 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 | |
CON00377 | POMGNT1-CDG (cong. muscular dystrophy spectrum) | POMGNT1 |
|
Congenital Disorders of Glycosylation (CDGs) | Q8WZA1 | |
CON00376 | POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) | POMT1,POMT2 |
|
Congenital Disorders of Glycosylation (CDGs) | ||
CON00414 | Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) | PIGA |
|
Congenital Disorders of Glycosylation (CDGs) | P37287 | |
CON00103 | Pompe disease | GAA |
|
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 | |
CON00356 | RFT1-CDG | RFT1 |
|
Congenital Disorders of Glycosylation (CDGs) | Q96AA3 | |
CON00373 | SEC23B-CDG | SEC23B |
|
Congenital Disorders of Glycosylation (CDGs) | Q15437 | |
CON00363 | SLC35A1-CDG | SLC35A1 |
|
Congenital Disorders of Glycosylation (CDGs) | P78382 | |
CON00360 | SLC35C1-CDG | SLC35C1 |
|
Congenital Disorders of Glycosylation (CDGs) | Q96A29 | |
CON00399 | SLC35D1-CDG | SLC35D1 |
|
Congenital Disorders of Glycosylation (CDGs) | Q9NTN3 | |
CON00622 | SRD5A3-CDG | SRD5A3 |
|
Congenital Disorders of Glycosylation (CDGs) | Q9H8P0 | |
CON00412 | ST3GAL5-CDG | SIAT9 |
|
Congenital Disorders of Glycosylation (CDGs) | Q9UNP4 |
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Last updated: August 19, 2024