| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Methylenetetrahydrofolate reductase deficiency | MTHFR | disease | C1856061 | Biomarker | 0.7 | orphanet , disgenet |
| Methylenetetrahydrofolate reductase deficiency | MTHFR | disease | C1856061 | GeneticVariation | 0.7 | orphanet , disgenet |
| Methylenetetrahydrofolate reductase deficiency | MTHFR | disease | C1856061 | AlteredExpression | 0.7 | orphanet , disgenet |
| Methylenetetrahydrofolate reductase deficiency | MTHFR | disease | C1856061 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Methylenetetrahydrofolate reductase deficiency | CYP7A1 | disease | C1856061 | AlteredExpression | 0.01 | disgenet |
| Methylenetetrahydrofolate reductase deficiency | NR1H4 | disease | C1856061 | Biomarker | 0.01 | disgenet |
| Methylenetetrahydrofolate reductase deficiency | SAA2 | disease | C1856061 | Biomarker | 0.01 | disgenet |
| Methylenetetrahydrofolate reductase deficiency | IKZF2 | disease | C1856061 | Biomarker | 0.01 | disgenet |
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