Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Bjornstad syndrome BCS1L disease C0266006 Biomarker 0.75 disgenet
Bjornstad syndrome BCS1L disease C0266006 CausalMutation 0.75 disgenet
Bjornstad syndrome BCS1L disease C0266006 GeneticVariation 0.75 disgenet
Bjornstad syndrome BCS1L disease C0266006 GermlineCausalMutation 0.75 disgenet
Bjornstad syndrome TOR1A disease C0266006 Biomarker 0.1 disgenet
Bjornstad syndrome TOR1A disease C0266006 GeneticVariation 0.1 disgenet
Bjornstad syndrome THAP1 disease C0266006 GeneticVariation 0.05 disgenet
Bjornstad syndrome THAP1 disease C0266006 Biomarker 0.05 disgenet
Bjornstad syndrome DYT13 disease C0266006 Biomarker 0.04 disgenet
Bjornstad syndrome DYT13 disease C0266006 GeneticVariation 0.04 disgenet
Bjornstad syndrome GNAL disease C0266006 GeneticVariation 0.02 disgenet
Bjornstad syndrome DYT7 disease C0266006 GeneticVariation 0.02 disgenet
Bjornstad syndrome RAB4B-EGLN2 disease C0266006 Biomarker 0.01 disgenet
Bjornstad syndrome TYMS disease C0266006 GeneticVariation 0.01 disgenet
Bjornstad syndrome PNKD disease C0266006 Biomarker 0.01 disgenet
Bjornstad syndrome ANO3 disease C0266006 GeneticVariation 0.01 disgenet
Bjornstad syndrome EGLN2 disease C0266006 Biomarker 0.01 disgenet
Bjornstad syndrome TAF1 disease C0266006 GeneticVariation 0.01 disgenet
Bjornstad syndrome PHC1 disease C0266006 Biomarker 0.01 disgenet
Bjornstad syndrome EGLN3 disease C0266006 Biomarker 0.01 disgenet
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