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 |
---|---|---|---|---|---|
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 |
C0020255 | Hydrocephalus | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
C0009402 | Colorectal Carcinoma | RTN4RL2 | 349667 | reticulon 4 receptor like 2 | Q86UN3 |
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Last updated: August 19, 2024