Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Distal Myopathy TTN group C0751336 GeneticVariation 0.57 disgenet
Distal Myopathy TTN group C0751336 Biomarker 0.57 disgenet
Distal Myopathy MYH7 group C0751336 Biomarker 0.57 disgenet
Distal Myopathy MYH7 group C0751336 GeneticVariation 0.57 disgenet
Distal Myopathy HSPB8 group C0751336 GeneticVariation 0.42 disgenet
Distal Myopathy HSPB8 group C0751336 Biomarker 0.42 disgenet
Distal Myopathy MATR3 group C0751336 Biomarker 0.4 orphanet , disgenet
Distal Myopathy MATR3 group C0751336 GeneticVariation 0.4 orphanet , disgenet
Distal Myopathy GNE group C0751336 Biomarker 0.37 disgenet
Distal Myopathy GNE group C0751336 GeneticVariation 0.37 disgenet
Distal Myopathy DYSF group C0751336 GeneticVariation 0.3 orphanet , disgenet
Distal Myopathy DYSF group C0751336 Biomarker 0.3 orphanet , disgenet
Distal Myopathy DES group C0751336 GeneticVariation 0.09 disgenet
Distal Myopathy DES group C0751336 Biomarker 0.09 disgenet
Distal Myopathy ANO5 group C0751336 GeneticVariation 0.08 disgenet
Distal Myopathy CAV3 group C0751336 GeneticVariation 0.07 orphanet , disgenet
Distal Myopathy MYOT group C0751336 GeneticVariation 0.04 disgenet
Distal Myopathy FLNC group C0751336 GeneticVariation 0.04 orphanet , disgenet
Distal Myopathy NEB group C0751336 GeneticVariation 0.03 orphanet , disgenet
Distal Myopathy ADSS1 group C0751336 Biomarker 0.03 disgenet
Distal Myopathy ADSS1 group C0751336 GeneticVariation 0.03 disgenet
Distal Myopathy DMD group C0751336 GeneticVariation 0.02 disgenet
Distal Myopathy DMD group C0751336 Biomarker 0.02 disgenet
Distal Myopathy ACTA1 group C0751336 GeneticVariation 0.02 orphanet , disgenet
Distal Myopathy SQSTM1 group C0751336 GeneticVariation 0.02 orphanet , disgenet
Distal Myopathy FHL1 group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy DNAJB6 group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy PSMG3 group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy LAMA2 group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy RYR1 group C0751336 Biomarker 0.01 disgenet
Distal Myopathy PIK3C2A group C0751336 AlteredExpression 0.01 disgenet
Distal Myopathy ACTB group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy DSG2 group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy ZASP group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy SYNM group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy CRYAB group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy TIA1 group C0751336 GeneticVariation 0.01 orphanet , disgenet
Distal Myopathy OBSCN group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy LDB3 group C0751336 GeneticVariation 0.01 orphanet , disgenet
Distal Myopathy POLG group C0751336 GeneticVariation 0.01 disgenet
Distal Myopathy KLHL9 NA C0751336 NA NA orphanet
Distal Myopathy VCP NA C0751336 NA NA orphanet
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