Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Structural Myopathy MTM1 disease C0752282 AlteredExpression 0.4 disgenet
Congenital Structural Myopathy MTM1 disease C0752282 Biomarker 0.4 disgenet
Congenital Structural Myopathy MTM1 disease C0752282 GeneticVariation 0.4 disgenet
Congenital Structural Myopathy DNM2 disease C0752282 GeneticVariation 0.37 disgenet
Congenital Structural Myopathy DNM2 disease C0752282 Biomarker 0.37 disgenet
Congenital Structural Myopathy MTMR14 disease C0752282 Biomarker 0.31 disgenet
Congenital Structural Myopathy BIN1 disease C0752282 GeneticVariation 0.31 disgenet
Congenital Structural Myopathy RYR1 disease C0752282 GeneticVariation 0.31 disgenet
Congenital Structural Myopathy BIN1 disease C0752282 Biomarker 0.31 disgenet
Congenital Structural Myopathy MTMR14 disease C0752282 GeneticVariation 0.31 disgenet
Congenital Structural Myopathy RYR1 disease C0752282 Biomarker 0.31 disgenet
Congenital Structural Myopathy ORAI1 disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy STIM1 disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy TPM2 disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy TPM3 disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy CCDC78 disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy ACTA1 disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy MYH7 disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy SELENON disease C0752282 Biomarker 0.3 disgenet
Congenital Structural Myopathy MTMR2 disease C0752282 Biomarker 0.05 disgenet
Congenital Structural Myopathy MTMR2 disease C0752282 AlteredExpression 0.05 disgenet
Congenital Structural Myopathy MTMR2 disease C0752282 GeneticVariation 0.05 disgenet
Congenital Structural Myopathy VIM disease C0752282 AlteredExpression 0.01 disgenet
Congenital Structural Myopathy MTMR12 disease C0752282 Biomarker 0.01 disgenet
Congenital Structural Myopathy DES disease C0752282 AlteredExpression 0.01 disgenet
Congenital Structural Myopathy AMPH disease C0752282 Biomarker 0.01 disgenet
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