| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epileptic Encephalopathy, Early Infantile, 3 | SLC25A22 | disease | C0270855 | GeneticVariation | 0.7 | orphanet , disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SLC25A22 | disease | C0270855 | Biomarker | 0.7 | orphanet , disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SLC25A22 | disease | C0270855 | CausalMutation | 0.7 | orphanet , disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SLC25A22 | disease | C0270855 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SIK1 | disease | C0270855 | GeneticVariation | 0.31 | orphanet , disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SIK1 | disease | C0270855 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | ERBB4 | disease | C0270855 | GeneticVariation | 0.02 | disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | STXBP1 | disease | C0270855 | GeneticVariation | 0.01 | disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SPTAN1 | disease | C0270855 | GeneticVariation | 0.01 | disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SIK1B | disease | C0270855 | GeneticVariation | 0.01 | disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | SCN1A | disease | C0270855 | GeneticVariation | 0.01 | disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | PIGA | disease | C0270855 | GeneticVariation | 0.01 | disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | AMT | disease | C0270855 | GeneticVariation | 0.01 | disgenet |
| Epileptic Encephalopathy, Early Infantile, 3 | KCNQ2 | disease | C0270855 | GeneticVariation | 0.01 | disgenet |
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