| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Goldberg-Shprintzen megacolon syndrome | KIFBP | disease | C1836123 | Biomarker | 0.96 | orphanet , disgenet |
| Goldberg-Shprintzen megacolon syndrome | KIFBP | disease | C1836123 | GeneticVariation | 0.96 | orphanet , disgenet |
| Goldberg-Shprintzen megacolon syndrome | KIFBP | disease | C1836123 | CausalMutation | 0.96 | orphanet , disgenet |
| Goldberg-Shprintzen megacolon syndrome | KIFBP | disease | C1836123 | AlteredExpression | 0.96 | orphanet , disgenet |
| Goldberg-Shprintzen megacolon syndrome | KIFBP | disease | C1836123 | GermlineCausalMutation | 0.96 | orphanet , disgenet |
| Goldberg-Shprintzen megacolon syndrome | KAT6B | disease | C1836123 | GeneticVariation | 0.01 | disgenet |
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