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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 |
|---|---|---|---|---|---|
| C0029124 | Optic Atrophy | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0028738 | Nystagmus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0017661 | IGA Glomerulonephritis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0025958 | Microcephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0027651 | Neoplasms | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0235946 | Cerebral atrophy | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020676 | Hypothyroidism | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020758 | Congenital ichthyosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1140680 | Malignant neoplasm of ovary | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C2931002 | Congenital disorder of glycosylation type 1H | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0006142 | Malignant neoplasm of breast | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0019693 | HIV Infections | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0017205 | Gaucher Disease | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0282577 | Congenital Disorders of Glycosylation | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C4721610 | Carcinoma, Ovarian Epithelial | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0027651 | Neoplasms | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0919267 | ovarian neoplasm | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C2239176 | Liver carcinoma | MAN1A2 | 10905 | mannosidase alpha class 1A member 2 | O60476 |
| C0020505 | Hyperphagia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0234533 | Generalized seizures | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0010495 | Cutis Laxa | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0023895 | Liver diseases | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
