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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 |
|---|---|---|---|---|---|
| C0339573 | Glaucoma, Primary Open Angle | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0006826 | Malignant Neoplasms | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0004352 | Autistic Disorder | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C1306459 | Primary malignant neoplasm | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0027651 | Neoplasms | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0007102 | Malignant tumor of colon | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0007789 | Cerebral Palsy | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0409959 | Osteoarthritis, Knee | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0029408 | Degenerative polyarthritis | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0152013 | Adenocarcinoma of lung (disorder) | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0563625 | Agnosia for Pain | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| 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 |
| C0266551 | Congenital coloboma of iris | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C3665347 | Visual Impairment | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0013336 | Dwarfism | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0013080 | Down Syndrome | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0001623 | Adrenal gland hypofunction | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0029124 | Optic Atrophy | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0026850 | Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
