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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 ▼ |
|---|---|---|---|---|---|
| C0042769 | Virus Diseases | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0431128 | Papillary craniopharyngioma | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0010068 | Coronary heart disease | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0023487 | Acute Promyelocytic Leukemia | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0007131 | Non-Small Cell Lung Carcinoma | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C0027651 | Neoplasms | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C0006118 | Brain Neoplasms | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C1306459 | Primary malignant neoplasm | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0020473 | Hyperlipidemia | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0006826 | Malignant Neoplasms | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0027819 | Neuroblastoma | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0038868 | Progressive supranuclear palsy | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0027051 | Myocardial Infarction | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0020456 | Hyperglycemia | GPX5 | 2880 | glutathione peroxidase 5 | O75715 |
| C0085207 | Gestational Diabetes | FCN3 | 8547 | ficolin 3 | O75636 |
| C0024143 | Lupus Nephritis | FCN3 | 8547 | ficolin 3 | O75636 |
| C1140680 | Malignant neoplasm of ovary | FCN3 | 8547 | ficolin 3 | O75636 |
| C0003257 | Antibody Deficiency Syndrome | FCN3 | 8547 | ficolin 3 | O75636 |
| C0006826 | Malignant Neoplasms | FCN3 | 8547 | ficolin 3 | O75636 |
| C0023343 | Leprosy | FCN3 | 8547 | ficolin 3 | O75636 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | FCN3 | 8547 | ficolin 3 | O75636 |
| C0027051 | Myocardial Infarction | FCN3 | 8547 | ficolin 3 | O75636 |
| C0162871 | Aortic Aneurysm, Abdominal | FCN3 | 8547 | ficolin 3 | O75636 |
