Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Kearns-Sayre Syndrome TRNL1 disease C0022541 CausalMutation 0.4 disgenet
Kearns-Sayre Syndrome TRNL1 disease C0022541 GeneticVariation 0.4 disgenet
Kearns-Sayre Syndrome RRM2B disease C0022541 GeneticVariation 0.31 orphanet , disgenet
Kearns-Sayre Syndrome RRM2B disease C0022541 GermlineCausalMutation 0.31 orphanet , disgenet
Kearns-Sayre Syndrome ATP8 disease C0022541 GeneticVariation 0.3 disgenet
Kearns-Sayre Syndrome IL1A disease C0022541 Biomarker 0.3 disgenet
Kearns-Sayre Syndrome IL1B disease C0022541 Biomarker 0.3 disgenet
Kearns-Sayre Syndrome TFAM disease C0022541 Biomarker 0.2 disgenet
Kearns-Sayre Syndrome TRNY disease C0022541 CausalMutation 0.1 disgenet
Kearns-Sayre Syndrome POLG disease C0022541 Biomarker 0.04 disgenet
Kearns-Sayre Syndrome POLG disease C0022541 GeneticVariation 0.04 disgenet
Kearns-Sayre Syndrome TWNK disease C0022541 GeneticVariation 0.02 disgenet
Kearns-Sayre Syndrome TWNK disease C0022541 Biomarker 0.02 disgenet
Kearns-Sayre Syndrome MAG disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome LOX disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome COQ8A disease C0022541 GeneticVariation 0.01 disgenet
Kearns-Sayre Syndrome PANK2 disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome PRPF6 disease C0022541 AlteredExpression 0.01 disgenet
Kearns-Sayre Syndrome SGSH disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome SYP disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome SOD2 disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome PPARGC1A disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome PGC disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome GH1 disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome CALB1 disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome SPAG9 disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome GJA1 disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome ATP6 disease C0022541 GeneticVariation 0.01 disgenet
Kearns-Sayre Syndrome CYTB disease C0022541 GeneticVariation 0.01 disgenet
Kearns-Sayre Syndrome SLC25A4 disease C0022541 AlteredExpression 0.01 disgenet
Kearns-Sayre Syndrome ATXN7 disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome VARS2 disease C0022541 GeneticVariation 0.01 disgenet
Kearns-Sayre Syndrome GFER disease C0022541 Biomarker 0.01 disgenet
Kearns-Sayre Syndrome RNASEH1 NA C0022541 NA NA orphanet
Kearns-Sayre Syndrome MT-TL1 NA C0022541 NA NA orphanet
Kearns-Sayre Syndrome MT-ATP8 NA C0022541 NA NA orphanet
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