Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Brugada Syndrome SCN5A disease C1142166 CausalMutation 1 orphanet , disgenet
Brugada Syndrome SCN5A disease C1142166 GeneticVariation 1 orphanet , disgenet
Brugada Syndrome SCN5A disease C1142166 Biomarker 1 orphanet , disgenet
Brugada Syndrome SCN5A disease C1142166 AlteredExpression 1 orphanet , disgenet
Brugada Syndrome SCN10A disease C1142166 SusceptibilityMutation 0.8 orphanet , disgenet
Brugada Syndrome SCN10A disease C1142166 Biomarker 0.8 orphanet , disgenet
Brugada Syndrome SCN10A disease C1142166 GeneticVariation 0.8 orphanet , disgenet
Brugada Syndrome PKP2 disease C1142166 GeneticVariation 0.65 orphanet , disgenet
Brugada Syndrome PKP2 disease C1142166 AlteredExpression 0.65 orphanet , disgenet
Brugada Syndrome PKP2 disease C1142166 Biomarker 0.65 orphanet , disgenet
Brugada Syndrome KCNE5 disease C1142166 Biomarker 0.62 orphanet , disgenet
Brugada Syndrome KCNE5 disease C1142166 GeneticVariation 0.62 orphanet , disgenet
Brugada Syndrome CACNA2D1 disease C1142166 Biomarker 0.62 orphanet , disgenet
Brugada Syndrome CACNA2D1 disease C1142166 GeneticVariation 0.62 orphanet , disgenet
Brugada Syndrome CACNA2D1 disease C1142166 SusceptibilityMutation 0.62 orphanet , disgenet
Brugada Syndrome CACNA1C disease C1142166 Biomarker 0.57 orphanet , disgenet
Brugada Syndrome CACNA1C disease C1142166 GeneticVariation 0.57 orphanet , disgenet
Brugada Syndrome KCND3 disease C1142166 GeneticVariation 0.56 orphanet , disgenet
Brugada Syndrome KCND3 disease C1142166 Biomarker 0.56 orphanet , disgenet
Brugada Syndrome KCND3 disease C1142166 GermlineCausalMutation 0.56 orphanet , disgenet
Brugada Syndrome SCN1B disease C1142166 GeneticVariation 0.55 orphanet , disgenet
Brugada Syndrome SCN1B disease C1142166 Biomarker 0.55 orphanet , disgenet
Brugada Syndrome RANGRF disease C1142166 GeneticVariation 0.55 orphanet , disgenet
Brugada Syndrome RANGRF disease C1142166 Biomarker 0.55 orphanet , disgenet
Brugada Syndrome SCN3B disease C1142166 GeneticVariation 0.53 orphanet , disgenet
Brugada Syndrome TRPM4 disease C1142166 GermlineCausalMutation 0.53 orphanet , disgenet
Brugada Syndrome TRPM4 disease C1142166 GeneticVariation 0.53 orphanet , disgenet
Brugada Syndrome SCN3B disease C1142166 Biomarker 0.53 orphanet , disgenet
Brugada Syndrome TRPM4 disease C1142166 SusceptibilityMutation 0.53 orphanet , disgenet
Brugada Syndrome TRPM4 disease C1142166 Biomarker 0.53 orphanet , disgenet
Brugada Syndrome KCNJ8 disease C1142166 GeneticVariation 0.52 orphanet , disgenet
Brugada Syndrome KCNJ8 disease C1142166 SusceptibilityMutation 0.52 orphanet , disgenet
Brugada Syndrome KCNJ8 disease C1142166 Biomarker 0.52 orphanet , disgenet
Brugada Syndrome SCN2B disease C1142166 GeneticVariation 0.51 orphanet , disgenet
Brugada Syndrome SLMAP disease C1142166 GermlineCausalMutation 0.51 orphanet , disgenet
Brugada Syndrome CACNB2 disease C1142166 Biomarker 0.51 orphanet , disgenet
Brugada Syndrome SLMAP disease C1142166 GeneticVariation 0.51 orphanet , disgenet
Brugada Syndrome ABCC9 disease C1142166 Biomarker 0.51 orphanet , disgenet
Brugada Syndrome KCNE3 disease C1142166 Biomarker 0.51 orphanet , disgenet
Brugada Syndrome SLMAP disease C1142166 Biomarker 0.51 orphanet , disgenet
Brugada Syndrome ABCC9 disease C1142166 GermlineCausalMutation 0.51 orphanet , disgenet
Brugada Syndrome SCN2B disease C1142166 Biomarker 0.51 orphanet , disgenet
Brugada Syndrome KCNE3 disease C1142166 GeneticVariation 0.51 orphanet , disgenet
Brugada Syndrome CACNB2 disease C1142166 GeneticVariation 0.51 orphanet , disgenet
Brugada Syndrome KCNH2 disease C1142166 Biomarker 0.45 disgenet
Brugada Syndrome KCNH2 disease C1142166 GeneticVariation 0.45 disgenet
Brugada Syndrome GPD1L disease C1142166 GeneticVariation 0.36 orphanet , disgenet
Brugada Syndrome GPD1L disease C1142166 Biomarker 0.36 orphanet , disgenet
Brugada Syndrome HEY2 disease C1142166 AlteredExpression 0.35 disgenet
Brugada Syndrome HEY2 disease C1142166 Biomarker 0.35 disgenet
Brugada Syndrome HEY2 disease C1142166 GeneticVariation 0.35 disgenet
Brugada Syndrome HCN4 disease C1142166 Biomarker 0.32 orphanet , disgenet
Brugada Syndrome HCN4 disease C1142166 GeneticVariation 0.32 orphanet , disgenet
Brugada Syndrome AKAP9 disease C1142166 Biomarker 0.31 orphanet , disgenet
Brugada Syndrome AKAP9 disease C1142166 GeneticVariation 0.31 orphanet , disgenet
Brugada Syndrome CALM2 disease C1142166 GermlineCausalMutation 0.3 disgenet
Brugada Syndrome ANK2 disease C1142166 Biomarker 0.3 disgenet
Brugada Syndrome LINC02523 disease C1142166 GeneticVariation 0.1 disgenet
Brugada Syndrome KCNQ1 disease C1142166 GeneticVariation 0.03 disgenet
Brugada Syndrome KCNQ1 disease C1142166 Biomarker 0.03 disgenet
Brugada Syndrome VCL disease C1142166 Biomarker 0.02 disgenet
Brugada Syndrome VCL disease C1142166 GeneticVariation 0.02 disgenet
Brugada Syndrome RYR2 disease C1142166 GeneticVariation 0.02 disgenet
Brugada Syndrome BHLHE40 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome ELOC disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome RRAD disease C1142166 AlteredExpression 0.01 disgenet
Brugada Syndrome ATXN2 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome ELOA disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome SCN4A disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome MYH7 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome EGR3 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome SKP1 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome KCNE2 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome EPHA3 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome MFAP1 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome KCNE1 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome IDS disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome ELOB disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome HARS1 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome NOS1AP disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome DSG2 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome XIRP1 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome LRRC10 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome NR4A3 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome SCN4B disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome ATN1 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome SEMA3A disease C1142166 Biomarker 0.01 orphanet , disgenet
Brugada Syndrome FGF14 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome DELEC1 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome GJA1 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome HGS disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome FGF12 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome KCND2 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome APRT disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome DSP disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome TBX5 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome FGF11 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome KCNAB2 disease C1142166 GeneticVariation 0.01 disgenet
Brugada Syndrome SCD disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome KCNK1 disease C1142166 AlteredExpression 0.01 disgenet
Brugada Syndrome SRSF5 disease C1142166 Biomarker 0.01 disgenet
Brugada Syndrome SCNN1A NA C1142166 NA NA orphanet
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