| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Jackson-Weiss syndrome | FGFR2 | disease | C0795998 | GermlineCausalMutation | 0.76 | orphanet , disgenet |
| Jackson-Weiss syndrome | FGFR2 | disease | C0795998 | Biomarker | 0.76 | orphanet , disgenet |
| Jackson-Weiss syndrome | FGFR2 | disease | C0795998 | CausalMutation | 0.76 | orphanet , disgenet |
| Jackson-Weiss syndrome | FGFR2 | disease | C0795998 | GeneticVariation | 0.76 | orphanet , disgenet |
| Jackson-Weiss syndrome | FGFR1 | disease | C0795998 | CausalMutation | 0.71 | disgenet |
| Jackson-Weiss syndrome | FGFR1 | disease | C0795998 | GeneticVariation | 0.71 | disgenet |
| Jackson-Weiss syndrome | FGFR1 | disease | C0795998 | Biomarker | 0.71 | disgenet |
| Jackson-Weiss syndrome | NUBP2 | disease | C0795998 | GeneticVariation | 0.01 | disgenet |
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