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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