| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Growth-mental deficiency syndrome of Myhre | SMAD4 | disease | C0796081 | CausalMutation | 0.8 | orphanet , disgenet |
| Growth-mental deficiency syndrome of Myhre | SMAD4 | disease | C0796081 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Growth-mental deficiency syndrome of Myhre | SMAD4 | disease | C0796081 | GeneticVariation | 0.8 | orphanet , disgenet |
| Growth-mental deficiency syndrome of Myhre | SMAD4 | disease | C0796081 | Biomarker | 0.8 | orphanet , disgenet |
| Growth-mental deficiency syndrome of Myhre | NT5E | disease | C0796081 | Biomarker | 0.01 | disgenet |
| Growth-mental deficiency syndrome of Myhre | IL1RN | disease | C0796081 | Biomarker | 0.01 | disgenet |
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