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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 |
|---|---|---|---|---|---|
| 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 |
| C0266483 | Pachygyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0032285 | Pneumonia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1879312 | Agyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3714756 | Intellectual Disability | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0266551 | Congenital coloboma of iris | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010417 | Cryptorchidism | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0241005 | Creatine phosphokinase serum increased | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0025958 | Microcephaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0024115 | Lung diseases | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
