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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 |
|---|---|---|---|---|---|
| C4082197 | Charcot-Marie-Tooth disease type 4 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0023066 | Laryngospasm | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270912 | Charcot-Marie-Tooth Disease, Type Ib | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0039075 | Syndactyly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0013336 | Dwarfism | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0034194 | Pyloric Stenosis | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C4721453 | Peripheral Nervous System Diseases | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0266483 | Pachygyria | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0030360 | Papillon-Lefevre Disease | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0265213 | Distal arthrogryposis syndrome | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0678222 | Breast Carcinoma | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0078982 | Arhinencephaly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270922 | Peripheral demyelinating neuropathy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0205713 | Roussy-Levy Syndrome (disorder) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0018818 | Ventricular Septal Defects | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0751036 | Hereditary Motor and Sensory Neuropathy Type I | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0002736 | Amyotrophic Lateral Sclerosis | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0014544 | Epilepsy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0015300 | Exophthalmos | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0006142 | Malignant neoplasm of breast | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0011303 | Demyelinating Diseases | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0035067 | Renal Artery Stenosis | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0878544 | Cardiomyopathies | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0025958 | Microcephaly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0039685 | Tetralogy of Fallot | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
