| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| MEHMO syndrome | EIF2S3 | disease | C1846278 | CausalMutation | 0.75 | orphanet , disgenet |
| MEHMO syndrome | EIF2S3 | disease | C1846278 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| MEHMO syndrome | EIF2S3 | disease | C1846278 | Biomarker | 0.75 | orphanet , disgenet |
| MEHMO syndrome | EIF2S3 | disease | C1846278 | GeneticVariation | 0.75 | orphanet , disgenet |
| MEHMO syndrome | EIF2S1 | disease | C1846278 | GeneticVariation | 0.02 | disgenet |
| MEHMO syndrome | EIF2S2 | disease | C1846278 | GeneticVariation | 0.02 | disgenet |
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