| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Dysplasia, Thanatophoric | FGFR3 | disease | C0039743 | GeneticVariation | 0.6 | orphanet , disgenet |
| Dysplasia, Thanatophoric | FGFR3 | disease | C0039743 | AlteredExpression | 0.6 | orphanet , disgenet |
| Dysplasia, Thanatophoric | FGFR3 | disease | C0039743 | Biomarker | 0.6 | orphanet , disgenet |
| Dysplasia, Thanatophoric | HSPG2 | disease | C0039743 | Biomarker | 0.21 | disgenet |
| Dysplasia, Thanatophoric | BCL2 | disease | C0039743 | AlteredExpression | 0.02 | disgenet |
| Dysplasia, Thanatophoric | STAT1 | disease | C0039743 | Biomarker | 0.01 | disgenet |
| Dysplasia, Thanatophoric | HRAS | disease | C0039743 | GeneticVariation | 0.01 | disgenet |
| Dysplasia, Thanatophoric | TLX1NB | disease | C0039743 | GeneticVariation | 0.01 | disgenet |
| Dysplasia, Thanatophoric | PTRH1 | disease | C0039743 | Biomarker | 0.01 | disgenet |
| Dysplasia, Thanatophoric | ACHE | disease | C0039743 | AlteredExpression | 0.01 | disgenet |
| Dysplasia, Thanatophoric | PTH | disease | C0039743 | Biomarker | 0.01 | disgenet |
| Dysplasia, Thanatophoric | FGF2 | disease | C0039743 | GeneticVariation | 0.01 | disgenet |
| Dysplasia, Thanatophoric | RAF1 | disease | C0039743 | AlteredExpression | 0.01 | disgenet |
| Dysplasia, Thanatophoric | NPR2 | disease | C0039743 | Biomarker | 0.01 | disgenet |
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