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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 |
|---|---|---|---|---|---|
| C0007766 | Intracranial Aneurysm | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1260386 | Glucocorticoid-remediable aldosteronism | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0017636 | Glioblastoma | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0041341 | Tuberous Sclerosis | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0262584 | Carcinoma, Small Cell | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0033141 | Cardiomyopathies, Primary | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0010346 | Crohn Disease | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0238462 | Medullary carcinoma of thyroid | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0024809 | Marijuana Abuse | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0149782 | Squamous cell carcinoma of lung | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0024121 | Lung Neoplasms | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0162823 | Dermatitis, Irritant | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1168401 | Squamous cell carcinoma of the head and neck | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0796012 | Krause-Kivlin syndrome | B3GALT1 | 8708 | beta-1,3-galactosyltransferase 1 | Q9Y5Z6 |
| C0001418 | Adenocarcinoma | B3GALT1 | 8708 | beta-1,3-galactosyltransferase 1 | Q9Y5Z6 |
| C0007131 | Non-Small Cell Lung Carcinoma | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C0027651 | Neoplasms | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C0006118 | Brain Neoplasms | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C0006142 | Malignant neoplasm of breast | B3GALT4 | 8705 | beta-1,3-galactosyltransferase 4 | O96024 |
| C0002395 | Alzheimer's Disease | B3GALT4 | 8705 | beta-1,3-galactosyltransferase 4 | O96024 |
| C0009402 | Colorectal Carcinoma | B3GALT4 | 8705 | beta-1,3-galactosyltransferase 4 | O96024 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | B3GALT4 | 8705 | beta-1,3-galactosyltransferase 4 | O96024 |
| C0013720 | Ehlers-Danlos Syndrome | B3GALT4 | 8705 | beta-1,3-galactosyltransferase 4 | O96024 |
