| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | PITX1 | disease | C1861313 | GeneticVariation | 0.62 | disgenet |
| Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | PITX1 | disease | C1861313 | GermlineCausalMutation | 0.62 | disgenet |
| Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | PITX1 | disease | C1861313 | Biomarker | 0.62 | disgenet |
| Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | PITX1 | disease | C1861313 | AlteredExpression | 0.62 | disgenet |
| Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | MACROH2A1 | disease | C1861313 | GermlineCausalMutation | 0.3 | disgenet |
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