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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 |
|---|---|---|---|---|---|
| C3665347 | Visual Impairment | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0878544 | Cardiomyopathies | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0079924 | Oligohydramnios | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0036857 | Severe intellectual disability | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0017601 | Glaucoma | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0079541 | Holoprosencephaly | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0038379 | Strabismus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0699743 | Congenital muscular dystrophy (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0036439 | Scoliosis, unspecified | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0016202 | Flatfoot | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0025362 | Mental Retardation | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0175709 | Centronuclear myopathy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0029124 | Optic Atrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0014548 | Epilepsy, Generalized | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1261470 | Congenital meningocele | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0025958 | Microcephaly | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0036572 | Seizures | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0014848 | Esophageal Achalasia | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C4551675 | Keratoderma, Palmoplantar | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C3714756 | Intellectual Disability | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0271742 | Glucocorticoid deficiency with achalasia | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
