Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Malignant Hyperthermia RYR1 disease C0024591 Biomarker 0.9 orphanet , disgenet
Malignant Hyperthermia RYR1 disease C0024591 GeneticVariation 0.9 orphanet , disgenet
Malignant Hyperthermia RYR1 disease C0024591 CausalMutation 0.9 orphanet , disgenet
Malignant Hyperthermia RYR1 disease C0024591 AlteredExpression 0.9 orphanet , disgenet
Malignant Hyperthermia CACNA1S disease C0024591 GeneticVariation 0.5 orphanet , disgenet
Malignant Hyperthermia CACNA1S disease C0024591 Biomarker 0.5 orphanet , disgenet
Malignant Hyperthermia CACNA1S disease C0024591 SusceptibilityMutation 0.5 orphanet , disgenet
Malignant Hyperthermia STAC3 disease C0024591 Biomarker 0.13 disgenet
Malignant Hyperthermia STAC3 disease C0024591 GeneticVariation 0.13 disgenet
Malignant Hyperthermia SCN4A disease C0024591 Biomarker 0.12 disgenet
Malignant Hyperthermia SCN4A disease C0024591 GeneticVariation 0.12 disgenet
Malignant Hyperthermia CHRNA1 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia MYF6 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia TRAF6 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia TRAPPC9 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia DNM2 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia CHRND disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia EDAR disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia CRLF1 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia CLCF1 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia NALCN disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia MYH3 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia BIN1 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia KDF1 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia MTMR14 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia ELP1 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia HSPG2 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia GCDH disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia ABCA12 disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia CHRNG disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia SCN5A disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia EDARADD disease C0024591 Biomarker 0.1 disgenet
Malignant Hyperthermia RYR2 disease C0024591 Biomarker 0.09 disgenet
Malignant Hyperthermia RYR2 disease C0024591 GeneticVariation 0.09 disgenet
Malignant Hyperthermia CASQ1 disease C0024591 GeneticVariation 0.08 disgenet
Malignant Hyperthermia CASQ1 disease C0024591 Biomarker 0.08 disgenet
Malignant Hyperthermia RUNX2 disease C0024591 GeneticVariation 0.03 disgenet
Malignant Hyperthermia RUNX2 disease C0024591 Biomarker 0.03 disgenet
Malignant Hyperthermia BCHE disease C0024591 GeneticVariation 0.03 disgenet
Malignant Hyperthermia SELENON disease C0024591 GeneticVariation 0.02 disgenet
Malignant Hyperthermia DMD disease C0024591 Biomarker 0.02 disgenet
Malignant Hyperthermia SELENON disease C0024591 Biomarker 0.02 disgenet
Malignant Hyperthermia DMD disease C0024591 GeneticVariation 0.02 disgenet
Malignant Hyperthermia CACNA2D1 disease C0024591 GeneticVariation 0.02 disgenet
Malignant Hyperthermia EPHA3 disease C0024591 AlteredExpression 0.02 disgenet
Malignant Hyperthermia CACNA2D1 disease C0024591 Biomarker 0.02 disgenet
Malignant Hyperthermia MHS2 disease C0024591 GeneticVariation 0.02 disgenet
Malignant Hyperthermia CBSL disease C0024591 Biomarker 0.02 disgenet
Malignant Hyperthermia EPHA3 disease C0024591 GeneticVariation 0.02 disgenet
Malignant Hyperthermia CBS disease C0024591 AlteredExpression 0.02 disgenet
Malignant Hyperthermia CBS disease C0024591 Biomarker 0.02 disgenet
Malignant Hyperthermia CBSL disease C0024591 AlteredExpression 0.02 disgenet
Malignant Hyperthermia GYPA disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia IL6 disease C0024591 Biomarker 0.01 disgenet
Malignant Hyperthermia GPI disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia ATP2A1 disease C0024591 AlteredExpression 0.01 disgenet
Malignant Hyperthermia COL4A1 disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia HAL disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia GYPB disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia EIF3K disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia ARVD3 disease C0024591 Biomarker 0.01 disgenet
Malignant Hyperthermia CACNA1C disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia GYPE disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia KCNA1 disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia TRPV1 disease C0024591 Biomarker 0.01 disgenet
Malignant Hyperthermia SLC24A3 disease C0024591 Biomarker 0.01 disgenet
Malignant Hyperthermia QDPR disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia FLNA disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia PRODH disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia MHS3 disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia H19 disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia AICDA disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia SNRNP27 disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia HTR3A disease C0024591 Biomarker 0.01 disgenet
Malignant Hyperthermia SPAG9 disease C0024591 GeneticVariation 0.01 disgenet
Malignant Hyperthermia MEPE disease C0024591 GeneticVariation 0.01 disgenet
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