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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 |
|---|---|---|---|---|---|
| C1333620 | Flat Ductal Epithelial Atypia of the Breast | ADH4 | 127 | alcohol dehydrogenase 4 (class II), pi polypeptide | P08319 |
| C0037926 | Compression of spinal cord | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013720 | Ehlers-Danlos Syndrome | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C3809210 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0030486 | Paraplegia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0009782 | Connective Tissue Diseases | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0026266 | Mitral Valve Insufficiency | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018817 | Atrial Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C1442903 | Exostoses | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0009081 | Congenital clubfoot | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C3714756 | Intellectual Disability | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0016202 | Flatfoot | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0019569 | Hirschsprung Disease | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0149630 | Bicuspid aortic valve | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0010495 | Cutis Laxa | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C2239176 | Liver carcinoma | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0036439 | Scoliosis, unspecified | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0008925 | Cleft Palate | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| 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 |
