Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Kenny-Caffey syndrome, Type 1 | TBCE | disease | C1855648 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
Kenny-Caffey syndrome, Type 1 | TBCE | disease | C1855648 | CausalMutation | 0.72 | orphanet , disgenet |
Kenny-Caffey syndrome, Type 1 | TBCE | disease | C1855648 | Biomarker | 0.72 | orphanet , disgenet |
Kenny-Caffey syndrome, Type 1 | TBCE | disease | C1855648 | GeneticVariation | 0.72 | orphanet , disgenet |
Kenny-Caffey syndrome, Type 1 | FAM111A | disease | C1855648 | GeneticVariation | 0.02 | disgenet |
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