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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 |
|---|---|---|---|---|---|
| C1704436 | Peripheral Arterial Diseases | ACOD1 | 730249 | aconitate decarboxylase 1 | A6NK06 |
| C0017638 | Glioma | ACOD1 | 730249 | aconitate decarboxylase 1 | A6NK06 |
| C0243026 | Sepsis | ACOD1 | 730249 | aconitate decarboxylase 1 | A6NK06 |
| C0024115 | Lung diseases | ACOD1 | 730249 | aconitate decarboxylase 1 | A6NK06 |
| C0009451 | Communicating Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3553330 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026848 | Myopathy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C4015095 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010038 | Corneal Opacity | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| 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 |
