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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 |
|---|---|---|---|---|---|
| C0020456 | Hyperglycemia | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0029408 | Degenerative polyarthritis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C1306459 | Primary malignant neoplasm | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0020473 | Hyperlipidemia | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0566602 | Primary sclerosing cholangitis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0019158 | Hepatitis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0001973 | Alcoholic Intoxication, Chronic | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0392514 | Hereditary hemochromatosis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0684249 | Carcinoma of lung | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0009402 | Colorectal Carcinoma | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0878544 | Cardiomyopathies | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0558356 | Malignant melanoma of eye | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0400966 | Non-alcoholic Fatty Liver Disease | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0020757 | Ichthyoses | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0006826 | Malignant Neoplasms | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0241005 | Creatine phosphokinase serum increased | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0027651 | Neoplasms | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0243026 | Sepsis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0018802 | Congestive heart failure | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0020459 | Hyperinsulinism | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C2239176 | Liver carcinoma | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0342788 | Renal carnitine transport defect | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0035309 | Retinal Diseases | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0035344 | Retinopathy of Prematurity | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
