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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 ▼ |
|---|---|---|---|---|---|
| C0037822 | Speech Disorders | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0751882 | Myasthenic Syndromes, Congenital | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3714932 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0005745 | Blepharoptosis | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0456909 | Blindness | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0010417 | Cryptorchidism | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0036572 | Seizures | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0035305 | Retinal Detachment | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0027092 | Myopia | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0028738 | Nystagmus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0015469 | Facial paralysis | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0241005 | Creatine phosphokinase serum increased | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0338502 | Hypoplasia of the optic nerve | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0020255 | Hydrocephalus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0026010 | Microphthalmos | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0344530 | Congenital keratoglobus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0025958 | Microcephaly | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0009363 | Congenital ocular coloboma (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0002418 | Amblyopia | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0035334 | Retinitis Pigmentosa | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3714756 | Intellectual Disability | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0014877 | Esotropia | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3665347 | Visual Impairment | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0878544 | Cardiomyopathies | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
