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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 |
|---|---|---|---|---|---|
| C0393591 | AICARDI-GOUTIERES SYNDROME | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0393590 | Fahr's syndrome (disorder) | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0393588 | Dystonia, Paroxysmal | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0393588 | Dystonia, Paroxysmal | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0393584 | Benign Hereditary Chorea | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0393576 | Chorea Acanthocytosis Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0393576 | Chorea Acanthocytosis Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0393576 | Chorea Acanthocytosis Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0393576 | Chorea Acanthocytosis Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0393574 | Huntington Disease, Late Onset | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0393571 | Multiple System Atrophy | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0393571 | Multiple System Atrophy | ELOVL7 | 79993 | ELOVL fatty acid elongase 7 | A1L3X0 |
| C0393559 | Troyer syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393559 | Troyer syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0393559 | Troyer syndrome | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0393554 | Amyotrophic Lateral Sclerosis With Dementia | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0393554 | Amyotrophic Lateral Sclerosis With Dementia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0393547 | Bulbospinal Neuronopathy | PRNP | 5621 | prion protein | P04156 |
| C0393547 | Bulbospinal Neuronopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0393524 | Cerebellar Ataxia, Late Onset | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0393484 | Rasmussen Syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
