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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 |
|---|---|---|---|---|---|
| C0268275 | Tay-Sachs Disease, AB Variant | OGA | 10724 | O-GlcNAcase | O60502 |
| C0002875 | Cooley's anemia | OGA | 10724 | O-GlcNAcase | O60502 |
| C0040517 | Gilles de la Tourette syndrome | OGA | 10724 | O-GlcNAcase | O60502 |
| C0007102 | Malignant tumor of colon | OGA | 10724 | O-GlcNAcase | O60502 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | OGA | 10724 | O-GlcNAcase | O60502 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | OGA | 10724 | O-GlcNAcase | O60502 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | OGA | 10724 | O-GlcNAcase | O60502 |
| C0018802 | Congestive heart failure | OGA | 10724 | O-GlcNAcase | O60502 |
| C0751490 | Infantile Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C0154841 | Central retinal vein occlusion | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0010054 | Coronary Arteriosclerosis | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0010068 | Coronary heart disease | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0041296 | Tuberculosis | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0394005 | Ataxic cerebral palsy | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0027651 | Neoplasms | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C1857276 | Trichohepatoenteric Syndrome | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0038454 | Cerebrovascular accident | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0011432 | Dentin Sensitivity | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0015702 | Favism | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0018802 | Congestive heart failure | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0043154 | Dental White Spot | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0006826 | Malignant Neoplasms | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C1333990 | Hereditary Nonpolyposis Colorectal Cancer | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0024299 | Lymphoma | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
