| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Plantar Lipomatosis, Unusual Facies, and Developmental Delay | TBL1XR1 | disease | C1865644 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Plantar Lipomatosis, Unusual Facies, and Developmental Delay | TBL1XR1 | disease | C1865644 | Biomarker | 0.75 | orphanet , disgenet |
| Plantar Lipomatosis, Unusual Facies, and Developmental Delay | TBL1XR1 | disease | C1865644 | CausalMutation | 0.75 | orphanet , disgenet |
| Plantar Lipomatosis, Unusual Facies, and Developmental Delay | TBL1XR1 | disease | C1865644 | GeneticVariation | 0.75 | orphanet , disgenet |
| Plantar Lipomatosis, Unusual Facies, and Developmental Delay | HTC2 | disease | C1865644 | GeneticVariation | 0.01 | disgenet |
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