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 |
---|---|---|---|---|---|
C0266544 | Microcornea | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
C0020256 | Congenital Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
C0265221 | Walker-Warburg congenital muscular dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
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 |
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Last updated: August 19, 2024