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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0008354 | Cholera | ART5 | 116969 | ADP-ribosyltransferase 5 | Q96L15 |
| C0086543 | Cataract | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C0878544 | Cardiomyopathies | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C0007194 | Hypertrophic Cardiomyopathy | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C0042900 | Vitiligo | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C3495498 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C0002395 | Alzheimer's Disease | LYZL4 | 131375 | lysozyme like 4 | Q96KX0 |
| C0002170 | Alopecia | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0011615 | Dermatitis, Atopic | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0086873 | Pseudopelade | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0022658 | Kidney Diseases | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0013595 | Eczema | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C1561643 | Chronic Kidney Diseases | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0006142 | Malignant neoplasm of breast | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0014859 | Esophageal Neoplasms | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0206682 | Follicular thyroid carcinoma | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
