| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| KBG syndrome | ANKRD11 | disease | C0220687 | Biomarker | 0.8 | orphanet , disgenet |
| KBG syndrome | ANKRD11 | disease | C0220687 | CausalMutation | 0.8 | orphanet , disgenet |
| KBG syndrome | ANKRD11 | disease | C0220687 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| KBG syndrome | ANKRD11 | disease | C0220687 | GeneticVariation | 0.8 | orphanet , disgenet |
| KBG syndrome | KAT6B | disease | C0220687 | CausalMutation | 0.1 | disgenet |
| KBG syndrome | KDM1A | disease | C0220687 | GeneticVariation | 0.01 | disgenet |
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