| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hemimegalencephalies | MTOR | disease | C0431391 | CausalMutation | 0.5 | disgenet |
| Hemimegalencephalies | MTOR | disease | C0431391 | GeneticVariation | 0.5 | disgenet |
| Hemimegalencephalies | MTOR | disease | C0431391 | Biomarker | 0.5 | disgenet |
| Hemimegalencephalies | MTOR | disease | C0431391 | AlteredExpression | 0.5 | disgenet |
| Hemimegalencephalies | AKT3 | disease | C0431391 | GeneticVariation | 0.46 | orphanet , disgenet |
| Hemimegalencephalies | AKT3 | disease | C0431391 | Biomarker | 0.46 | orphanet , disgenet |
| Hemimegalencephalies | AKT3 | disease | C0431391 | SomaticCausalMutation | 0.46 | orphanet , disgenet |
| Hemimegalencephalies | PIK3CA | disease | C0431391 | GeneticVariation | 0.45 | orphanet , disgenet |
| Hemimegalencephalies | PIK3CA | disease | C0431391 | CausalMutation | 0.45 | orphanet , disgenet |
| Hemimegalencephalies | PIK3CA | disease | C0431391 | Biomarker | 0.45 | orphanet , disgenet |
| Hemimegalencephalies | PIK3CA | disease | C0431391 | SomaticCausalMutation | 0.45 | orphanet , disgenet |
| Hemimegalencephalies | KRAS | disease | C0431391 | Biomarker | 0.4 | disgenet |
| Hemimegalencephalies | NRAS | disease | C0431391 | Biomarker | 0.4 | disgenet |
| Hemimegalencephalies | HRAS | disease | C0431391 | Biomarker | 0.4 | disgenet |
| Hemimegalencephalies | TSC1 | disease | C0431391 | GeneticVariation | 0.13 | disgenet |
| Hemimegalencephalies | PTEN | disease | C0431391 | Biomarker | 0.13 | disgenet |
| Hemimegalencephalies | PTEN | disease | C0431391 | GeneticVariation | 0.13 | disgenet |
| Hemimegalencephalies | TSC2 | disease | C0431391 | GeneticVariation | 0.13 | disgenet |
| Hemimegalencephalies | DEPDC5 | disease | C0431391 | Biomarker | 0.13 | disgenet |
| Hemimegalencephalies | TSC2 | disease | C0431391 | Biomarker | 0.13 | disgenet |
| Hemimegalencephalies | DEPDC5 | disease | C0431391 | AlteredExpression | 0.13 | disgenet |
| Hemimegalencephalies | TSC1 | disease | C0431391 | Biomarker | 0.13 | disgenet |
| Hemimegalencephalies | RHEB | disease | C0431391 | GeneticVariation | 0.11 | disgenet |
| Hemimegalencephalies | SCN1A-AS1 | disease | C0431391 | CausalMutation | 0.1 | disgenet |
| Hemimegalencephalies | IFNG | disease | C0431391 | Biomarker | 0.1 | disgenet |
| Hemimegalencephalies | SCN1A | disease | C0431391 | CausalMutation | 0.1 | disgenet |
| Hemimegalencephalies | PIK3CD | disease | C0431391 | GeneticVariation | 0.05 | disgenet |
| Hemimegalencephalies | PIK3CB | disease | C0431391 | GeneticVariation | 0.05 | disgenet |
| Hemimegalencephalies | AKT1 | disease | C0431391 | Biomarker | 0.05 | disgenet |
| Hemimegalencephalies | AKT1 | disease | C0431391 | AlteredExpression | 0.05 | disgenet |
| Hemimegalencephalies | PIK3CD | disease | C0431391 | Biomarker | 0.05 | disgenet |
| Hemimegalencephalies | PIK3CG | disease | C0431391 | Biomarker | 0.05 | disgenet |
| Hemimegalencephalies | PIK3CG | disease | C0431391 | GeneticVariation | 0.05 | disgenet |
| Hemimegalencephalies | AKT1 | disease | C0431391 | GeneticVariation | 0.05 | disgenet |
| Hemimegalencephalies | PIK3CB | disease | C0431391 | Biomarker | 0.05 | disgenet |
| Hemimegalencephalies | CTNNB1 | disease | C0431391 | Biomarker | 0.03 | disgenet |
| Hemimegalencephalies | FECD3 | disease | C0431391 | Biomarker | 0.03 | disgenet |
| Hemimegalencephalies | CCND1 | disease | C0431391 | AlteredExpression | 0.03 | disgenet |
| Hemimegalencephalies | CTNNB1 | disease | C0431391 | AlteredExpression | 0.03 | disgenet |
| Hemimegalencephalies | SLC12A3 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | NPRL3 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | RPS6 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | MAP2 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | NGF | disease | C0431391 | AlteredExpression | 0.01 | disgenet |
| Hemimegalencephalies | COX2 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | CCN4 | disease | C0431391 | AlteredExpression | 0.01 | disgenet |
| Hemimegalencephalies | TESC | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | PTGS2 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | MYC | disease | C0431391 | AlteredExpression | 0.01 | disgenet |
| Hemimegalencephalies | FECD2 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | BDNF | disease | C0431391 | AlteredExpression | 0.01 | disgenet |
| Hemimegalencephalies | CHAT | disease | C0431391 | AlteredExpression | 0.01 | disgenet |
| Hemimegalencephalies | L1CAM | disease | C0431391 | AlteredExpression | 0.01 | disgenet |
| Hemimegalencephalies | WNT1 | disease | C0431391 | AlteredExpression | 0.01 | disgenet |
| Hemimegalencephalies | GFAP | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | MTCO2P12 | disease | C0431391 | Biomarker | 0.01 | disgenet |
| Hemimegalencephalies | SMUG1 | disease | C0431391 | Biomarker | 0.01 | disgenet |
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