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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 |
|---|---|---|---|---|---|
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0015393 | Eye Abnormalities | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026010 | Microphthalmos | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0699743 | Congenital muscular dystrophy (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0002871 | Anemia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010964 | Dandy-Walker Syndrome | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0575158 | Kyphoscoliosis deformity of spine | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0266568 | Persistent Hyperplastic Primary Vitreous | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0549423 | Obstructive Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0036572 | Seizures | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C2936786 | Aqueductal Stenosis | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0086543 | Cataract | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026850 | Muscular Dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0029124 | Optic Atrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1531647 | Cerebral ventriculomegaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0017601 | Glaucoma | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0854723 | Retinal Dystrophies | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0035305 | Retinal Detachment | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0338502 | Hypoplasia of the optic nerve | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0231528 | Myalgia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0520947 | Clumsiness - motor delay | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C2750786 | Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0020255 | Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
