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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 ▲ |
|---|---|---|---|---|---|
| C4721532 | Lymphoma, Non-Hodgkin, Familial | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0014548 | Epilepsy, Generalized | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0700095 | Central neuroblastoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0015695 | Fatty Liver | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0024301 | Lymphoma, Follicular | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1332979 | Childhood Lymphoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| 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 |
| C0023467 | Leukemia, Myelocytic, Acute | GLB1L2 | 89944 | galactosidase beta 1 like 2 | Q8IW92 |
| C0024115 | Lung diseases | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0020255 | Hydrocephalus | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0751674 | Lymphangioleiomyomatosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0035235 | Respiratory Syncytial Virus Infections | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0034069 | Pulmonary Fibrosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0235833 | Congenital diaphragmatic hernia | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0027651 | Neoplasms | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
