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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 ▼ |
|---|---|---|---|---|---|
| C0023467 | Leukemia, Myelocytic, Acute | GLB1L2 | 89944 | galactosidase beta 1 like 2 | Q8IW92 |
| 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 |
| C0006142 | Malignant neoplasm of breast | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0035344 | Retinopathy of Prematurity | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1306459 | Primary malignant neoplasm | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0009402 | Colorectal Carcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0027651 | Neoplasms | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C3203102 | Idiopathic pulmonary arterial hypertension | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1621958 | Glioblastoma Multiforme | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0006826 | Malignant Neoplasms | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0678222 | Breast Carcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1134719 | Invasive Ductal Breast Carcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0001418 | Adenocarcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
