Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Burn-Mckeown syndrome | TXNL4A | disease | C1837822 | CausalMutation | 0.73 | orphanet , disgenet |
Burn-Mckeown syndrome | TXNL4A | disease | C1837822 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
Burn-Mckeown syndrome | TXNL4A | disease | C1837822 | GeneticVariation | 0.73 | orphanet , disgenet |
Burn-Mckeown syndrome | TXNL4A | disease | C1837822 | Biomarker | 0.73 | orphanet , disgenet |
Burn-Mckeown syndrome | POLR1A | disease | C1837822 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
Burn-Mckeown syndrome | EIF4A3 | disease | C1837822 | Biomarker | 0.01 | disgenet |
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