Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Central Core Myopathies RYR1 disease C0751951 AlteredExpression 1 orphanet , disgenet
Central Core Myopathies RYR1 disease C0751951 CausalMutation 1 orphanet , disgenet
Central Core Myopathies RYR1 disease C0751951 GeneticVariation 1 orphanet , disgenet
Central Core Myopathies RYR1 disease C0751951 Biomarker 1 orphanet , disgenet
Central Core Myopathies LMNA disease C0751951 GeneticVariation 0.22 disgenet
Central Core Myopathies LMNA disease C0751951 Biomarker 0.22 disgenet
Central Core Myopathies CHKB disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies LARGE1 disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies POMGNT1 disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies FKTN disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies ITGA7 disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies B4GAT1 disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies FKRP disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies POMT1 disease C0751951 Biomarker 0.2 disgenet
Central Core Myopathies SLC26A3 disease C0751951 Biomarker 0.04 disgenet
Central Core Myopathies RUNX2 disease C0751951 GeneticVariation 0.04 disgenet
Central Core Myopathies RYR2 disease C0751951 GeneticVariation 0.04 disgenet
Central Core Myopathies SLC26A3 disease C0751951 GeneticVariation 0.04 disgenet
Central Core Myopathies SELENON disease C0751951 GeneticVariation 0.03 disgenet
Central Core Myopathies CACNA1S disease C0751951 Biomarker 0.02 disgenet
Central Core Myopathies MYH7 disease C0751951 GeneticVariation 0.02 disgenet
Central Core Myopathies EPHA3 disease C0751951 GeneticVariation 0.02 disgenet
Central Core Myopathies MYH7 disease C0751951 Biomarker 0.02 disgenet
Central Core Myopathies EPHA3 disease C0751951 AlteredExpression 0.02 disgenet
Central Core Myopathies PRKAB1 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies NFATC1 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies ACACA disease C0751951 GeneticVariation 0.01 disgenet
Central Core Myopathies ATP2A1 disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies DNM2 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies PRKAA1 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies BMS1 disease C0751951 GeneticVariation 0.01 disgenet
Central Core Myopathies TNNI3K disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies SIRT1 disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies PRKAA2 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies FKBP1AP3 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies IL6 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies MYL3 disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies FKBP1AP2 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies ALDH2 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies ADAMTS13 disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies FKBP1A disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies IL17A disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies ELANE disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies MYOT disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies MED25 disease C0751951 AlteredExpression 0.01 disgenet
Central Core Myopathies FKBP1AP1 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies ARVD3 disease C0751951 GeneticVariation 0.01 disgenet
Central Core Myopathies FKBP1AP4 disease C0751951 Biomarker 0.01 disgenet
Central Core Myopathies SCN5A disease C0751951 GeneticVariation 0.01 disgenet
Central Core Myopathies ACTB disease C0751951 GeneticVariation 0.01 disgenet
Central Core Myopathies STK11 disease C0751951 Biomarker 0.01 disgenet
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