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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 |
|---|---|---|---|---|---|
| C0007137 | Squamous cell carcinoma | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0009375 | Colonic Neoplasms | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0017638 | Glioma | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0017636 | Glioblastoma | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0035309 | Retinal Diseases | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0751955 | Brain Infarction | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0014556 | Epilepsy, Temporal Lobe | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0020608 | Hypodontia | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0020538 | Hypertensive disease | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0376358 | Malignant neoplasm of prostate | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0007097 | Carcinoma | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0041296 | Tuberculosis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C2711227 | Steatohepatitis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0023530 | Leukopenia | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0024301 | Lymphoma, Follicular | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0020490 | Hyperopia | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0023895 | Liver diseases | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0010495 | Cutis Laxa | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0027651 | Neoplasms | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0282577 | Congenital Disorders of Glycosylation | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0267963 | Exocrine pancreatic insufficiency | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0015695 | Fatty Liver | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM1 | 5372 | phosphomannomutase 1 | Q92871 |
| C0019189 | Hepatitis, Chronic | PMM1 | 5372 | phosphomannomutase 1 | Q92871 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
