| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Thanatophoric Dysplasia, Type I | FGFR3 | disease | C1868678 | AlteredExpression | 0.8 | orphanet , disgenet |
| Thanatophoric Dysplasia, Type I | FGFR3 | disease | C1868678 | GeneticVariation | 0.8 | orphanet , disgenet |
| Thanatophoric Dysplasia, Type I | FGFR3 | disease | C1868678 | Biomarker | 0.8 | orphanet , disgenet |
| Thanatophoric Dysplasia, Type I | FGFR3 | disease | C1868678 | CausalMutation | 0.8 | orphanet , disgenet |
| Thanatophoric Dysplasia, Type I | BCL2 | disease | C1868678 | AlteredExpression | 0.02 | disgenet |
| Thanatophoric Dysplasia, Type I | STAT1 | disease | C1868678 | Biomarker | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | TLR4 | disease | C1868678 | GeneticVariation | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | TNFRSF18 | disease | C1868678 | AlteredExpression | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | HRAS | disease | C1868678 | GeneticVariation | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | PTRH1 | disease | C1868678 | Biomarker | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | HSPG2 | disease | C1868678 | Biomarker | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | RAF1 | disease | C1868678 | AlteredExpression | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | CTLA4 | disease | C1868678 | AlteredExpression | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | NPR2 | disease | C1868678 | Biomarker | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | ACHE | disease | C1868678 | AlteredExpression | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | FGF2 | disease | C1868678 | GeneticVariation | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | PTH | disease | C1868678 | Biomarker | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | SLC6A3 | disease | C1868678 | Biomarker | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | TNF | disease | C1868678 | AlteredExpression | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | CD38 | disease | C1868678 | AlteredExpression | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | TLX1NB | disease | C1868678 | GeneticVariation | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | TRPV1 | disease | C1868678 | Biomarker | 0.01 | disgenet |
| Thanatophoric Dysplasia, Type I | P2RX7 | disease | C1868678 | AlteredExpression | 0.01 | disgenet |
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