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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 ▼ |
|---|---|---|---|---|---|
| C0029456 | Osteoporosis | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C1621958 | Glioblastoma Multiforme | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| 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 |
| C0009402 | Colorectal Carcinoma | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0037277 | Skin Diseases, Genetic | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0033860 | Psoriasis | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0036421 | Systemic Scleroderma | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C1849193 | PEELING SKIN SYNDROME | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0004096 | Asthma | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0011615 | Dermatitis, Atopic | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0024623 | Malignant neoplasm of stomach | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0027651 | Neoplasms | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0010674 | Cystic Fibrosis | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0017205 | Gaucher Disease | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0699791 | Stomach Carcinoma | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C1961835 | Gaucher Disease, Type 1 | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0740858 | Substance abuse problem | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0264408 | Childhood asthma | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C2239176 | Liver carcinoma | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C1096184 | West Nile viral infection | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
