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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 |
|---|---|---|---|---|---|
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0024312 | Lymphopenia | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0011265 | Presenile dementia | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0036572 | Seizures | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C1306459 | Primary malignant neoplasm | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0027651 | Neoplasms | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0750901 | Alzheimer Disease, Early Onset | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C2239176 | Liver carcinoma | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0162824 | Dermatitis, Photoallergic | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0017638 | Glioma | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0549473 | Thyroid carcinoma | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0040136 | Thyroid Neoplasm | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0008925 | Cleft Palate | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C0027651 | Neoplasms | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C0206624 | Hepatoblastoma | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C0025958 | Microcephaly | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C1956346 | Coronary Artery Disease | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C2239176 | Liver carcinoma | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C0037773 | Spastic Paraplegia, Hereditary | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| 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 |
