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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 ▲ |
|---|---|---|---|---|---|
| C0011847 | Diabetes | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0026850 | Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3809216 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0520947 | Clumsiness - motor delay | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0086543 | Cataract | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0008925 | Cleft Palate | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0026848 | Myopathy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1531647 | Cerebral ventriculomegaly | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| 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 |
