| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Glut1 Deficiency Syndrome | SLC2A1 | disease | C1847501 | Biomarker | 0.8 | orphanet , disgenet |
| Glut1 Deficiency Syndrome | SLC2A1 | disease | C1847501 | GeneticVariation | 0.8 | orphanet , disgenet |
| Glut1 Deficiency Syndrome | SLC2A1 | disease | C1847501 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Glut1 Deficiency Syndrome | SLC2A1 | disease | C1847501 | CausalMutation | 0.8 | orphanet , disgenet |
| Glut1 Deficiency Syndrome | SLC2A1 | disease | C1847501 | AlteredExpression | 0.8 | orphanet , disgenet |
| Glut1 Deficiency Syndrome | MCF2L | disease | C1847501 | GeneticVariation | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | LCT | disease | C1847501 | Biomarker | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | BAD | disease | C1847501 | Biomarker | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | OMG | disease | C1847501 | GeneticVariation | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | LRP2 | disease | C1847501 | GeneticVariation | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | LEP | disease | C1847501 | Biomarker | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | SLC2A2 | disease | C1847501 | GeneticVariation | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | STOM | disease | C1847501 | GeneticVariation | 0.01 | disgenet |
| Glut1 Deficiency Syndrome | PURA | disease | C1847501 | GeneticVariation | 0.01 | disgenet |
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