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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 ▼ |
|---|---|---|---|---|---|
| C0699885 | Carcinoma of bladder | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0011847 | Diabetes | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0008497 | Choriocarcinoma | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0003504 | Aortic Valve Insufficiency | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0085580 | Essential Hypertension | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0268398 | Familial lichen amyloidosis | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0008043 | Chiari-Frommel Syndrome | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0002170 | Alopecia | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C1136382 | Sclerocystic Ovaries | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0014175 | Endometriosis | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0005684 | Malignant neoplasm of urinary bladder | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0001144 | Acne Vulgaris | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0266362 | Ambiguous Genitalia | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0162429 | Malnutrition | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0149940 | Sciatic Neuropathy | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0699791 | Stomach Carcinoma | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0011849 | Diabetes Mellitus | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0231528 | Myalgia | ENO3 | 2027 | enolase 3 | P13929 |
| C0004364 | Autoimmune Diseases | ENO3 | 2027 | enolase 3 | P13929 |
| C0242379 | Malignant neoplasm of lung | ENO3 | 2027 | enolase 3 | P13929 |
| C0086565 | Liver Dysfunction | ENO3 | 2027 | enolase 3 | P13929 |
| C0031099 | Periodontitis | ENO3 | 2027 | enolase 3 | P13929 |
| C0155567 | Rheumatic aortic stenosis | ENO3 | 2027 | enolase 3 | P13929 |
| C0003507 | Aortic Valve Stenosis | ENO3 | 2027 | enolase 3 | P13929 |
| C0152417 | Congenital stenosis of aortic valve | ENO3 | 2027 | enolase 3 | P13929 |
