| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | ACP5 | disease | C1842763 | GeneticVariation | 0.72 | disgenet |
| Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | ACP5 | disease | C1842763 | Biomarker | 0.72 | disgenet |
| Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | ACP5 | disease | C1842763 | CausalMutation | 0.72 | disgenet |
| Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | ZNF627 | disease | C1842763 | CausalMutation | 0.1 | disgenet |
| Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | GH1 | disease | C1842763 | Biomarker | 0.01 | disgenet |
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