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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 |
|---|---|---|---|---|---|
| C0020255 | Hydrocephalus | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0029454 | Osteopetrosis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0020619 | Hypogonadism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0848558 | Hypospadias | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0009402 | Colorectal Carcinoma | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0400966 | Non-alcoholic Fatty Liver Disease | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0494463 | Alzheimer Disease, Late Onset | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0345904 | Malignant neoplasm of liver | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0015695 | Fatty Liver | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0027651 | Neoplasms | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C1959583 | Myocardial Failure | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C2711227 | Steatohepatitis | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0028754 | Obesity | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0029124 | Optic Atrophy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0019151 | Hepatic Encephalopathy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0020456 | Hyperglycemia | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0001125 | Acidosis, Lactic | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0011847 | Diabetes | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0020615 | Hypoglycemia | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0023343 | Leprosy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0023787 | Lipodystrophy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0023903 | Liver neoplasms | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0023212 | Left-Sided Heart Failure | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0006826 | Malignant Neoplasms | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
