| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ehlers-Danlos Syndrome, musculocontractural type 1 | CHST14 | disease | C1866294 | GermlineCausalMutation | 0.73 | disgenet |
| Ehlers-Danlos Syndrome, musculocontractural type 1 | CHST14 | disease | C1866294 | CausalMutation | 0.73 | disgenet |
| Ehlers-Danlos Syndrome, musculocontractural type 1 | CHST14 | disease | C1866294 | Biomarker | 0.73 | disgenet |
| Ehlers-Danlos Syndrome, musculocontractural type 1 | CHST14 | disease | C1866294 | GeneticVariation | 0.73 | disgenet |
| Ehlers-Danlos Syndrome, musculocontractural type 1 | DSE | disease | C1866294 | GermlineCausalMutation | 0.3 | disgenet |
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