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 |
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Last updated: August 19, 2024