Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Curly hair-ankyloblepharon-nail dysplasia syndrome | RIPK4 | disease | C0406733 | GeneticVariation | 0.61 | orphanet , disgenet |
Curly hair-ankyloblepharon-nail dysplasia syndrome | RIPK4 | disease | C0406733 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
Curly hair-ankyloblepharon-nail dysplasia syndrome | RIPK4 | disease | C0406733 | CausalMutation | 0.61 | orphanet , disgenet |
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