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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 |
|---|---|---|---|---|---|
| C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C3203102 | Idiopathic pulmonary arterial hypertension | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1384666 | hearing impairment | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0010417 | Cryptorchidism | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0018817 | Atrial Septal Defects | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0086543 | Cataract | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0524851 | Neurodegenerative Disorders | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020255 | Hydrocephalus | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0555198 | Malignant Glioma | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0003467 | Anxiety | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1408174 | Hypertrophic neuropathy of infancy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020224 | Polyhydramnios | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0031117 | Peripheral Neuropathy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020545 | Hypertension, Renovascular | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0017572 | Gingival Recession | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0011581 | Depressive disorder | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0000768 | Congenital Abnormality | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0342770 | Fumarase deficiency | FH | 2271 | fumarate hydratase | P07954 |
| C1306459 | Primary malignant neoplasm | FH | 2271 | fumarate hydratase | P07954 |
| C0007134 | Renal Cell Carcinoma | FH | 2271 | fumarate hydratase | P07954 |
| C0027651 | Neoplasms | FH | 2271 | fumarate hydratase | P07954 |
| C0024314 | Lymphoproliferative Disorders | FH | 2271 | fumarate hydratase | P07954 |
| C0241910 | Autoimmune Chronic Hepatitis | FH | 2271 | fumarate hydratase | P07954 |
