Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Townes-Brocks syndrome | SALL1 | disease | C0265246 | CausalMutation | 0.9 | orphanet , disgenet |
Townes-Brocks syndrome | SALL1 | disease | C0265246 | GeneticVariation | 0.9 | orphanet , disgenet |
Townes-Brocks syndrome | SALL1 | disease | C0265246 | Biomarker | 0.9 | orphanet , disgenet |
Townes-Brocks syndrome | DACT1 | disease | C0265246 | GeneticVariation | 0.51 | orphanet , disgenet |
Townes-Brocks syndrome | DACT1 | disease | C0265246 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
Townes-Brocks syndrome | DACT1 | disease | C0265246 | Biomarker | 0.51 | orphanet , disgenet |
Townes-Brocks syndrome | EYA1 | disease | C0265246 | GeneticVariation | 0.01 | disgenet |
Townes-Brocks syndrome | TBX5 | disease | C0265246 | GeneticVariation | 0.01 | disgenet |
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