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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 |
|---|---|---|---|---|---|
| C0028738 | Nystagmus | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020295 | Hydronephrosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0036341 | Schizophrenia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0007134 | Renal Cell Carcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0017638 | Glioma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C3714756 | Intellectual Disability | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1859126 | Stippled epiphyses | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0007102 | Malignant tumor of colon | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020758 | Congenital ichthyosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0007785 | Cerebral Infarction | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0022735 | Klinefelter Syndrome | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0009081 | Congenital clubfoot | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0019196 | Hepatitis C | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020255 | Hydrocephalus | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008925 | Cleft Palate | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008497 | Choriocarcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023448 | Lymphoid leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0699885 | Carcinoma of bladder | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0018784 | Sensorineural Hearing Loss (disorder) | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0037274 | Dermatologic disorders | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0013604 | Edema | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1306459 | Primary malignant neoplasm | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0006826 | Malignant Neoplasms | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0684249 | Carcinoma of lung | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0027651 | Neoplasms | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
