Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress NKX2-1 disease C1970269 Biomarker 0.77 orphanet , disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress NKX2-1 disease C1970269 GermlineCausalMutation 0.77 orphanet , disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress NKX2-1 disease C1970269 CausalMutation 0.77 orphanet , disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress NKX2-1 disease C1970269 GeneticVariation 0.77 orphanet , disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress NFKBIA disease C1970269 Biomarker 0.01 disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress MBIP disease C1970269 Biomarker 0.01 disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress WWTR1 disease C1970269 AlteredExpression 0.01 disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress TTF1 disease C1970269 GeneticVariation 0.01 disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress PAX9 disease C1970269 GeneticVariation 0.01 disgenet
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress PAX8 disease C1970269 GeneticVariation 0.01 disgenet
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