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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 |
|---|---|---|---|---|---|
| C0271561 | Somatotropin deficiency | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0013336 | Dwarfism | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0005129 | Bernard-Soulier Syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0544755 | Genu varum | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0027092 | Myopia | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0026269 | Mitral Valve Stenosis | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0016202 | Flatfoot | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0019572 | Hirsutism | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0029408 | Degenerative polyarthritis | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0026277 | Mixed Salivary Gland Tumor | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0020608 | Hypodontia | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0007196 | Restrictive cardiomyopathy | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0015300 | Exophthalmos | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0038454 | Cerebrovascular accident | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0003872 | Arthritis, Psoriatic | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0019156 | Hepatic Veno-Occlusive Disease | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028738 | Nystagmus | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0432242 | Desbuquois syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C3665347 | Visual Impairment | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1857276 | Trichohepatoenteric Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0022680 | Polycystic Kidney Diseases | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0699885 | Carcinoma of bladder | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0023643 | Lichen disease | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0018817 | Atrial Septal Defects | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028754 | Obesity | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
