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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 |
|---|---|---|---|---|---|
| C0042514 | Tachycardia, Ventricular | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0036857 | Severe intellectual disability | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0011195 | Dejerine-Sottas Disease (disorder) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0154682 | Lateral Sclerosis | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1970011 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0027888 | Hereditary Motor and Sensory Neuropathies | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1857663 | Yunis Varon syndrome | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0085078 | Lysosomal Storage Diseases | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C3711370 | Spastic Paraplegia Type 7 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C2675491 | AMYOTROPHIC LATERAL SCLEROSIS 11 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0007959 | Charcot-Marie-Tooth Disease | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0038220 | Status Epilepticus | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0027819 | Neuroblastoma | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0442874 | Neuropathy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020538 | Hypertensive disease | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1853235 | Sclerocornea | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| 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 |
