| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity | B3GALT6 | disease | C0432243 | Biomarker | 0.62 | orphanet , disgenet |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity | B3GALT6 | disease | C0432243 | GermlineCausalMutation | 0.62 | orphanet , disgenet |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity | B3GALT6 | disease | C0432243 | GeneticVariation | 0.62 | orphanet , disgenet |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity | EXOC6B | disease | C0432243 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity | KIF22 | disease | C0432243 | GeneticVariation | 0.02 | disgenet |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity | SEMA3A | disease | C0432243 | GeneticVariation | 0.01 | disgenet |
| click here to return to the previous page | ||||||