| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Thanatophoric dysplasia, type 2 | FGFR3 | disease | C1300257 | CausalMutation | 0.8 | orphanet , disgenet |
| Thanatophoric dysplasia, type 2 | FGFR3 | disease | C1300257 | GeneticVariation | 0.8 | orphanet , disgenet |
| Thanatophoric dysplasia, type 2 | FGFR3 | disease | C1300257 | Biomarker | 0.8 | orphanet , disgenet |
| Thanatophoric dysplasia, type 2 | STAT1 | disease | C1300257 | AlteredExpression | 0.03 | disgenet |
| Thanatophoric dysplasia, type 2 | STAT1 | disease | C1300257 | Biomarker | 0.03 | disgenet |
| Thanatophoric dysplasia, type 2 | FGF2 | disease | C1300257 | Biomarker | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | OPA1 | disease | C1300257 | Biomarker | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | LMAN1 | disease | C1300257 | Biomarker | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | DPP4 | disease | C1300257 | AlteredExpression | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | FGF13 | disease | C1300257 | Biomarker | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | APOC3 | disease | C1300257 | Biomarker | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | HDAC6 | disease | C1300257 | GeneticVariation | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | MAPK3 | disease | C1300257 | Biomarker | 0.01 | disgenet |
| Thanatophoric dysplasia, type 2 | CTNNB1 | disease | C1300257 | GeneticVariation | 0.01 | disgenet |
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