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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 ▲ |
|---|---|---|---|---|---|
| C0028077 | Nyctalopia | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0035579 | Rickets | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C4721453 | Peripheral Nervous System Diseases | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0008372 | Intrahepatic Cholestasis | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0029463 | Osteosarcoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0006142 | Malignant neoplasm of breast | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0242379 | Malignant neoplasm of lung | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0030567 | Parkinson Disease | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0027651 | Neoplasms | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0678222 | Breast Carcinoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0007103 | Malignant neoplasm of endometrium | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0007137 | Squamous cell carcinoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0001418 | Adenocarcinoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0392006 | Unilateral cleft lip | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0041696 | Unipolar Depression | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C1332986 | Childhood Osteosarcoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C4721806 | Carcinoma, Basal Cell | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0684249 | Carcinoma of lung | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0007114 | Malignant neoplasm of skin | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0007131 | Non-Small Cell Lung Carcinoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0585442 | Osteosarcoma of bone | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C1269683 | Major Depressive Disorder | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0476089 | Endometrial Carcinoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
