| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Lethal Congenital Contractural Syndrome 3 | PIP5K1C | disease | C1969655 | Biomarker | 0.7 | orphanet , disgenet |
| Lethal Congenital Contractural Syndrome 3 | PIP5K1C | disease | C1969655 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Lethal Congenital Contractural Syndrome 3 | PIP5K1C | disease | C1969655 | CausalMutation | 0.7 | orphanet , disgenet |
| Lethal Congenital Contractural Syndrome 3 | PIP5K1C | disease | C1969655 | GeneticVariation | 0.7 | orphanet , disgenet |
| Lethal Congenital Contractural Syndrome 3 | MYBPC1 | disease | C1969655 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
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