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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 |
|---|---|---|---|---|---|
| C0575158 | Kyphoscoliosis deformity of spine | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0015300 | Exophthalmos | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018816 | Heart Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0392476 | Epiphyseal dysplasia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013336 | Dwarfism | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018818 | Ventricular Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013581 | Ectopia Lentis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0027092 | Myopia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0029456 | Osteoporosis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0235974 | Pancreatic carcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C2239176 | Liver carcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0346647 | Malignant neoplasm of pancreas | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0023467 | Leukemia, Myelocytic, Acute | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0007102 | Malignant tumor of colon | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0699790 | Colon Carcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| C0001418 | Adenocarcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
| 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 |
| C0796012 | Krause-Kivlin syndrome | B3GALT1 | 8708 | beta-1,3-galactosyltransferase 1 | Q9Y5Z6 |
| C0001418 | Adenocarcinoma | B3GALT1 | 8708 | beta-1,3-galactosyltransferase 1 | Q9Y5Z6 |
| C3665347 | Visual Impairment | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
