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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 |
|---|---|---|---|---|---|
| C0006826 | Malignant Neoplasms | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C0027651 | Neoplasms | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C1306459 | Primary malignant neoplasm | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C0684249 | Carcinoma of lung | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C0684276 | Hypsarrhythmia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0751748 | Nonketotic Hyperglycinemia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0036572 | Seizures | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0426970 | Spastic Quadriplegia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0025958 | Microcephaly | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0027066 | Myoclonus | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0268165 | Primary hyperoxaluria type 2 | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0085584 | Encephalopathies | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0220981 | Metabolic acidosis | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C3714756 | Intellectual Disability | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0036341 | Schizophrenia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0028754 | Obesity | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0524620 | Metabolic Syndrome X | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0020538 | Hypertensive disease | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0030567 | Parkinson Disease | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0007222 | Cardiovascular Diseases | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C3179455 | Niemann-Pick Disease, Type C1 | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0004096 | Asthma | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0002395 | Alzheimer's Disease | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0023903 | Liver neoplasms | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
