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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 |
| C0152018 | Esophageal carcinoma | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0024748 | alpha-Mannosidosis | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0006142 | Malignant neoplasm of breast | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C3714756 | Intellectual Disability | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C1458155 | Mammary Neoplasms | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0376358 | Malignant neoplasm of prostate | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0038436 | Post-Traumatic Stress Disorder | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0600139 | Prostate carcinoma | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0007097 | Carcinoma | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0022658 | Kidney Diseases | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0008533 | Hemophilia B | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C1264041 | von Willebrand Disease, Type 3 | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C3161650 | Primary immunoglobulin A nephropathy (disorder) | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0023449 | Acute lymphocytic leukemia | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0038454 | Cerebrovascular accident | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0023493 | Adult T-Cell Lymphoma/Leukemia | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
