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 ▲ |
---|---|---|---|---|---|
C0026848 | Myopathy | LPIN2 | 9663 | lipin 2 | Q92539 |
C1275685 | Avellino corneal dystrophy | LPIN2 | 9663 | lipin 2 | Q92539 |
C0024523 | Malabsorption Syndrome | LPIN2 | 9663 | lipin 2 | Q92539 |
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 |
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Last updated: August 19, 2024