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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 |
|---|---|---|---|---|---|
| C0005695 | Bladder Neoplasm | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0271093 | Stargardt's disease | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0010964 | Dandy-Walker Syndrome | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266483 | Pachygyria | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0029124 | Optic Atrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C3554381 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C3714756 | Intellectual Disability | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0017601 | Glaucoma | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266551 | Congenital coloboma of iris | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266544 | Microcornea | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0018051 | Gonadal Dysgenesis | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0026010 | Microphthalmos | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0282577 | Congenital Disorders of Glycosylation | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0010038 | Corneal Opacity | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0036572 | Seizures | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0026850 | Muscular Dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0010417 | Cryptorchidism | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0854723 | Retinal Dystrophies | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0086543 | Cataract | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0035305 | Retinal Detachment | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0025958 | Microcephaly | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
