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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 |
|---|---|---|---|---|---|
| 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 |
| C2239176 | Liver carcinoma | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0699790 | Colon Carcinoma | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0009402 | Colorectal Carcinoma | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0017612 | Glaucoma, Open-Angle | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| 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 |
| C0019569 | Hirschsprung Disease | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C0027662 | Multiple Endocrine Neoplasia | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C0030319 | Panic Disorder | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
