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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 ▲ |
|---|---|---|---|---|---|
| C2239176 | Liver carcinoma | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C1096184 | West Nile viral infection | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C3495801 | Granulomatosis with polyangiitis | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0013170 | Drug habituation | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| 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 |
| C1843116 | Bile acid synthesis defect, congenital, 1 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0005779 | Blood Coagulation Disorders | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C2931067 | Cholestasis, progressive familial intrahepatic 4 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0038238 | Steatorrhea | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0008370 | Cholestasis | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0024523 | Malabsorption Syndrome | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0011991 | Diarrhea | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0020433 | Hyperbilirubinemia | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0030567 | Parkinson Disease | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0023895 | Liver diseases | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0027651 | Neoplasms | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| 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 |
