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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0751291 | Desmoplastic Medulloblastoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0751279 | Metachromatic Leukodystrophy, Adult-Type (disorder) | ARSA | 410 | arylsulfatase A | P15289 |
| C0751279 | Metachromatic Leukodystrophy, Adult-Type (disorder) | PSAP | 5660 | prosaposin | P07602 |
| C0751279 | Metachromatic Leukodystrophy, Adult-Type (disorder) | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0751278 | Metachromatic Leukodystrophy, Infant | ARSA | 410 | arylsulfatase A | P15289 |
| C0751278 | Metachromatic Leukodystrophy, Infant | PSAP | 5660 | prosaposin | P07602 |
| C0751276 | Metachromatic leukodystrophy, juvenile type | ARSA | 410 | arylsulfatase A | P15289 |
| C0751276 | Metachromatic leukodystrophy, juvenile type | PSAP | 5660 | prosaposin | P07602 |
| C0751273 | Infantile Globoid Cell Leukodystrophy | GALC | 2581 | galactosylceramidase | P54803 |
| C0751273 | Infantile Globoid Cell Leukodystrophy | PSAP | 5660 | prosaposin | P07602 |
| C0751267 | Encephalopathy, Subacute Necrotizing, Infantile | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0751267 | Encephalopathy, Subacute Necrotizing, Infantile | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0751265 | Learning Disabilities | KL | 9365 | klotho | Q9UEF7 |
| C0751265 | Learning Disabilities | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751265 | Learning Disabilities | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0751265 | Learning Disabilities | ARSD | 414 | arylsulfatase D | P51689 |
| C0751265 | Learning Disabilities | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751265 | Learning Disabilities | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | PRNP | 5621 | prion protein | P04156 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | PRNP | 5621 | prion protein | F7VJQ1 |
