| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Acromicric dysplasia | FBN1 | disease | C0265287 | Biomarker | 0.79 | orphanet , disgenet |
| Acromicric dysplasia | FBN1 | disease | C0265287 | CausalMutation | 0.79 | orphanet , disgenet |
| Acromicric dysplasia | FBN1 | disease | C0265287 | GeneticVariation | 0.79 | orphanet , disgenet |
| Acromicric dysplasia | FBN1 | disease | C0265287 | GermlineCausalMutation | 0.79 | orphanet , disgenet |
| Acromicric dysplasia | LTBP3 | disease | C0265287 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Acromicric dysplasia | LTBP3 | disease | C0265287 | GeneticVariation | 0.32 | orphanet , disgenet |
| Acromicric dysplasia | LTBP3 | disease | C0265287 | Biomarker | 0.32 | orphanet , disgenet |
| Acromicric dysplasia | ADAMTSL2 | disease | C0265287 | Biomarker | 0.31 | disgenet |
| Acromicric dysplasia | TGFB1 | disease | C0265287 | Biomarker | 0.3 | disgenet |
| Acromicric dysplasia | SMAD2 | disease | C0265287 | Biomarker | 0.3 | disgenet |
| Acromicric dysplasia | NPAP1 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | MKRN3-AS1 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | PWRN1 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | IPW | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | PWAR1 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | SNORD115-1 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | SNORD116-1 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | MKRN3 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | NDN | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | HERC2 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | MAGEL2 | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | SNRPN | disease | C0265287 | Biomarker | 0.1 | disgenet |
| Acromicric dysplasia | EGF | disease | C0265287 | GeneticVariation | 0.01 | disgenet |
| Acromicric dysplasia | HSPB3 | disease | C0265287 | GeneticVariation | 0.01 | disgenet |
| Acromicric dysplasia | ADAMTS1 | disease | C0265287 | Biomarker | 0.01 | disgenet |
| Acromicric dysplasia | ADAMTS10 | disease | C0265287 | Biomarker | 0.01 | disgenet |
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