| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Filippi syndrome | CKAP2L | disease | C0795940 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Filippi syndrome | CKAP2L | disease | C0795940 | Biomarker | 0.72 | orphanet , disgenet |
| Filippi syndrome | CKAP2L | disease | C0795940 | GeneticVariation | 0.72 | orphanet , disgenet |
| Filippi syndrome | CKAP2L | disease | C0795940 | CausalMutation | 0.72 | orphanet , disgenet |
| Filippi syndrome | RECQL4 | disease | C0795940 | Biomarker | 0.01 | disgenet |
| Filippi syndrome | ENOSF1 | disease | C0795940 | Biomarker | 0.01 | disgenet |
| Filippi syndrome | MECP2 | disease | C0795940 | Biomarker | 0.01 | disgenet |
| Filippi syndrome | NF1P1 | disease | C0795940 | Biomarker | 0.01 | disgenet |
| Filippi syndrome | CREBBP | disease | C0795940 | Biomarker | 0.01 | disgenet |
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