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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 |
|---|---|---|---|---|---|
| C0342751 | Generalized glycogen storage disease of infants | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856303 | GSD IV, Neuromuscular Form, Fatal Perinatal | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C1306459 | Primary malignant neoplasm | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0003873 | Rheumatoid Arthritis | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0023787 | Lipodystrophy | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0006826 | Malignant Neoplasms | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0235974 | Pancreatic carcinoma | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0015695 | Fatty Liver | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0011311 | Dengue Fever | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0023473 | Myeloid Leukemia, Chronic | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0023787 | Lipodystrophy | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0029463 | Osteosarcoma | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0158981 | Neonatal diabetes mellitus | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0027051 | Myocardial Infarction | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1531647 | Cerebral ventriculomegaly | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0018802 | Congestive heart failure | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0494360 | Lipodystrophy, not elsewhere classified | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1306459 | Primary malignant neoplasm | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C3714756 | Intellectual Disability | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0023487 | Acute Promyelocytic Leukemia | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0036439 | Scoliosis, unspecified | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0030305 | Pancreatitis | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
