| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pyridoxine-dependent epilepsy | ALDH7A1 | disease | C1849508 | Biomarker | 0.8 | orphanet , disgenet |
| Pyridoxine-dependent epilepsy | ALDH7A1 | disease | C1849508 | CausalMutation | 0.8 | orphanet , disgenet |
| Pyridoxine-dependent epilepsy | ALDH7A1 | disease | C1849508 | GeneticVariation | 0.8 | orphanet , disgenet |
| Pyridoxine-dependent epilepsy | PLPBP | disease | C1849508 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Pyridoxine-dependent epilepsy | PLPBP | disease | C1849508 | GeneticVariation | 0.51 | orphanet , disgenet |
| Pyridoxine-dependent epilepsy | PLPBP | disease | C1849508 | Biomarker | 0.51 | orphanet , disgenet |
| Pyridoxine-dependent epilepsy | SLC13A5 | disease | C1849508 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Pyridoxine-dependent epilepsy | PRKG1 | disease | C1849508 | Biomarker | 0.02 | disgenet |
| Pyridoxine-dependent epilepsy | GLUL | disease | C1849508 | GeneticVariation | 0.02 | disgenet |
| Pyridoxine-dependent epilepsy | GLUL | disease | C1849508 | Biomarker | 0.02 | disgenet |
| Pyridoxine-dependent epilepsy | COL2A1 | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | VIM | disease | C1849508 | Biomarker | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | PNPO | disease | C1849508 | Biomarker | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | CRK | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | CSTB | disease | C1849508 | Biomarker | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | GRAP2 | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | GAD1 | disease | C1849508 | GeneticVariation | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | MAPK1 | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | AHSA1 | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | TRS-AGA2-3 | disease | C1849508 | Biomarker | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | STXBP1 | disease | C1849508 | GeneticVariation | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | AIMP2 | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | PPARG | disease | C1849508 | GeneticVariation | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | MAPK14 | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | RNF19A | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | GUCY2C | disease | C1849508 | Biomarker | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | CRP | disease | C1849508 | Biomarker | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | POLDIP2 | disease | C1849508 | AlteredExpression | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | IDH1 | disease | C1849508 | GeneticVariation | 0.01 | disgenet |
| Pyridoxine-dependent epilepsy | ERBB2 | disease | C1849508 | Biomarker | 0.01 | disgenet |
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