Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Temtamy preaxial brachydactyly syndrome | CHSY1 | disease | C1854466 | Biomarker | 0.72 | orphanet , disgenet |
Temtamy preaxial brachydactyly syndrome | CHSY1 | disease | C1854466 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
Temtamy preaxial brachydactyly syndrome | CHSY1 | disease | C1854466 | CausalMutation | 0.72 | orphanet , disgenet |
Temtamy preaxial brachydactyly syndrome | CHSY1 | disease | C1854466 | GeneticVariation | 0.72 | orphanet , disgenet |
Temtamy preaxial brachydactyly syndrome | TGDS | disease | C1854466 | GeneticVariation | 0.01 | disgenet |
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