| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Geleophysic dwarfism | FBN1 | disease | C3489726 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Geleophysic dwarfism | FBN1 | disease | C3489726 | AlteredExpression | 0.7 | orphanet , disgenet |
| Geleophysic dwarfism | FBN1 | disease | C3489726 | Biomarker | 0.7 | orphanet , disgenet |
| Geleophysic dwarfism | FBN1 | disease | C3489726 | GeneticVariation | 0.7 | orphanet , disgenet |
| Geleophysic dwarfism | ADAMTSL2 | disease | C3489726 | GeneticVariation | 0.5 | orphanet , disgenet |
| Geleophysic dwarfism | ADAMTSL2 | disease | C3489726 | Biomarker | 0.5 | orphanet , disgenet |
| Geleophysic dwarfism | ADAMTSL2 | disease | C3489726 | CausalMutation | 0.5 | orphanet , disgenet |
| Geleophysic dwarfism | LTBP3 | disease | C3489726 | Biomarker | 0.31 | orphanet , disgenet |
| Geleophysic dwarfism | SMAD2 | disease | C3489726 | Biomarker | 0.31 | disgenet |
| Geleophysic dwarfism | LTBP3 | disease | C3489726 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Geleophysic dwarfism | TGFB1 | disease | C3489726 | Biomarker | 0.3 | disgenet |
| Geleophysic dwarfism | PRDX1 | disease | C3489726 | Biomarker | 0.01 | disgenet |
| Geleophysic dwarfism | PRRX1 | disease | C3489726 | Biomarker | 0.01 | disgenet |
| Geleophysic dwarfism | ADAMTSL4 | disease | C3489726 | Biomarker | 0.01 | disgenet |
| Geleophysic dwarfism | ADAMTS17 | disease | C3489726 | Biomarker | 0.01 | disgenet |
| Geleophysic dwarfism | EGF | disease | C3489726 | GeneticVariation | 0.01 | disgenet |
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