| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Guanidinoacetate methyltransferase deficiency | GAMT | disease | C0574080 | GeneticVariation | 0.94 | orphanet , disgenet |
| Guanidinoacetate methyltransferase deficiency | GAMT | disease | C0574080 | CausalMutation | 0.94 | orphanet , disgenet |
| Guanidinoacetate methyltransferase deficiency | GAMT | disease | C0574080 | AlteredExpression | 0.94 | orphanet , disgenet |
| Guanidinoacetate methyltransferase deficiency | GAMT | disease | C0574080 | Biomarker | 0.94 | orphanet , disgenet |
| Guanidinoacetate methyltransferase deficiency | GATM | disease | C0574080 | Biomarker | 0.05 | disgenet |
| Guanidinoacetate methyltransferase deficiency | SLC6A8 | disease | C0574080 | GeneticVariation | 0.03 | disgenet |
| Guanidinoacetate methyltransferase deficiency | SLC6A8 | disease | C0574080 | Biomarker | 0.03 | disgenet |
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