| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Lujan Fryns syndrome | MED12 | disease | C0796022 | CausalMutation | 0.74 | orphanet , disgenet |
| Lujan Fryns syndrome | MED12 | disease | C0796022 | GeneticVariation | 0.74 | orphanet , disgenet |
| Lujan Fryns syndrome | MED12 | disease | C0796022 | Biomarker | 0.74 | orphanet , disgenet |
| Lujan Fryns syndrome | MED12 | disease | C0796022 | GermlineCausalMutation | 0.74 | orphanet , disgenet |
| Lujan Fryns syndrome | ZDHHC9 | disease | C0796022 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Lujan Fryns syndrome | UPF3B | disease | C0796022 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Lujan Fryns syndrome | RCOR1 | disease | C0796022 | Biomarker | 0.01 | disgenet |
| Lujan Fryns syndrome | MECP2 | disease | C0796022 | GeneticVariation | 0.01 | disgenet |
| Lujan Fryns syndrome | FBN1 | disease | C0796022 | GeneticVariation | 0.01 | disgenet |
| Lujan Fryns syndrome | GLI3 | disease | C0796022 | Biomarker | 0.01 | disgenet |
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