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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 ▲ |
|---|---|---|---|---|---|
| C0006826 | Malignant Neoplasms | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0017601 | Glaucoma | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020490 | Hyperopia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0013720 | Ehlers-Danlos Syndrome | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0231528 | Myalgia | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C2239176 | Liver carcinoma | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0238577 | Abdominal wall defect | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0678222 | Breast Carcinoma | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0011847 | Diabetes | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0007222 | Cardiovascular Diseases | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0221356 | Brachycephaly | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C1306459 | Primary malignant neoplasm | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0011849 | Diabetes Mellitus | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0009081 | Congenital clubfoot | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0235946 | Cerebral atrophy | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0016522 | Foramen Ovale, Patent | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0026266 | Mitral Valve Insufficiency | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0027651 | Neoplasms | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0006142 | Malignant neoplasm of breast | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0019294 | Hernia, Inguinal | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0026267 | Mitral Valve Prolapse Syndrome | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0006826 | Malignant Neoplasms | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C1306459 | Primary malignant neoplasm | ACSL5 | 51703 | acyl-CoA synthetase long chain family member 5 | Q9ULC5 |
| C0027651 | Neoplasms | ACSL5 | 51703 | acyl-CoA synthetase long chain family member 5 | Q9ULC5 |
| C0009402 | Colorectal Carcinoma | ACSL5 | 51703 | acyl-CoA synthetase long chain family member 5 | Q9ULC5 |
