Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Nicolaides Baraitser syndrome SMARCA2 disease C1303073 CausalMutation 0.8 orphanet , disgenet
Nicolaides Baraitser syndrome SMARCA2 disease C1303073 Biomarker 0.8 orphanet , disgenet
Nicolaides Baraitser syndrome SMARCA2 disease C1303073 GeneticVariation 0.8 orphanet , disgenet
Nicolaides Baraitser syndrome SMARCA2 disease C1303073 GermlineCausalMutation 0.8 orphanet , disgenet
Nicolaides Baraitser syndrome NBN disease C1303073 GeneticVariation 0.32 disgenet
Nicolaides Baraitser syndrome NBN disease C1303073 Biomarker 0.32 disgenet
Nicolaides Baraitser syndrome NBN disease C1303073 AlteredExpression 0.32 disgenet
Nicolaides Baraitser syndrome ARID1B disease C1303073 CausalMutation 0.12 disgenet
Nicolaides Baraitser syndrome ARID1B disease C1303073 GeneticVariation 0.12 disgenet
Nicolaides Baraitser syndrome ARID1B disease C1303073 Biomarker 0.12 disgenet
Nicolaides Baraitser syndrome RS1 disease C1303073 GeneticVariation 0.1 disgenet
Nicolaides Baraitser syndrome CDKL5 disease C1303073 GeneticVariation 0.1 disgenet
Nicolaides Baraitser syndrome BANF1 disease C1303073 Biomarker 0.06 disgenet
Nicolaides Baraitser syndrome BANF1 disease C1303073 GeneticVariation 0.06 disgenet
Nicolaides Baraitser syndrome TERT disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome SMARCA4 disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome TERF1 disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome RAD50 disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome MRE11 disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome ARID1A disease C1303073 GeneticVariation 0.01 disgenet
Nicolaides Baraitser syndrome NME1 disease C1303073 AlteredExpression 0.01 disgenet
Nicolaides Baraitser syndrome IL5 disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome TRH disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome POLG disease C1303073 Biomarker 0.01 disgenet
Nicolaides Baraitser syndrome TBC1D24 disease C1303073 GeneticVariation 0.01 disgenet
Nicolaides Baraitser syndrome SMARCA1 disease C1303073 GeneticVariation 0.01 disgenet
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