| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Absent corpus callosum cataract immunodeficiency | EPG5 | disease | C1855772 | CausalMutation | 0.8 | orphanet , disgenet |
| Absent corpus callosum cataract immunodeficiency | EPG5 | disease | C1855772 | GeneticVariation | 0.8 | orphanet , disgenet |
| Absent corpus callosum cataract immunodeficiency | EPG5 | disease | C1855772 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Absent corpus callosum cataract immunodeficiency | EPG5 | disease | C1855772 | AlteredExpression | 0.8 | orphanet , disgenet |
| Absent corpus callosum cataract immunodeficiency | EPG5 | disease | C1855772 | Biomarker | 0.8 | orphanet , disgenet |
| Absent corpus callosum cataract immunodeficiency | RAB7A | disease | C1855772 | Biomarker | 0.02 | disgenet |
| Absent corpus callosum cataract immunodeficiency | RAB7B | disease | C1855772 | Biomarker | 0.02 | disgenet |
| Absent corpus callosum cataract immunodeficiency | EPGN | disease | C1855772 | GeneticVariation | 0.01 | disgenet |
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