Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Myopathies, Nemaline TPM3 disease C0206157 CausalMutation 0.5 orphanet , disgenet
Myopathies, Nemaline TPM3 disease C0206157 GeneticVariation 0.5 orphanet , disgenet
Myopathies, Nemaline TNNT1 disease C0206157 CausalMutation 0.5 disgenet
Myopathies, Nemaline NEB disease C0206157 AlteredExpression 0.5 orphanet , disgenet
Myopathies, Nemaline TNNT1 disease C0206157 Biomarker 0.5 disgenet
Myopathies, Nemaline NEB disease C0206157 Biomarker 0.5 orphanet , disgenet
Myopathies, Nemaline NEB disease C0206157 CausalMutation 0.5 orphanet , disgenet
Myopathies, Nemaline TPM3 disease C0206157 AlteredExpression 0.5 orphanet , disgenet
Myopathies, Nemaline TPM3 disease C0206157 Biomarker 0.5 orphanet , disgenet
Myopathies, Nemaline NEB disease C0206157 GeneticVariation 0.5 orphanet , disgenet
Myopathies, Nemaline TNNT1 disease C0206157 GeneticVariation 0.5 disgenet
Myopathies, Nemaline TPM2 disease C0206157 GeneticVariation 0.4 orphanet , disgenet
Myopathies, Nemaline ACTA1 disease C0206157 GeneticVariation 0.4 orphanet , disgenet
Myopathies, Nemaline TPM2 disease C0206157 Biomarker 0.4 orphanet , disgenet
Myopathies, Nemaline ACTA1 disease C0206157 Biomarker 0.4 orphanet , disgenet
Myopathies, Nemaline KLHL41 disease C0206157 Biomarker 0.34 orphanet , disgenet
Myopathies, Nemaline KLHL41 disease C0206157 GeneticVariation 0.34 orphanet , disgenet
Myopathies, Nemaline SRPK3 disease C0206157 Biomarker 0.3 disgenet
Myopathies, Nemaline KLHL9 disease C0206157 Biomarker 0.3 disgenet
Myopathies, Nemaline NEFL disease C0206157 Biomarker 0.3 disgenet
Myopathies, Nemaline FKRP disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline ITGA7 disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline LMNA disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline CHKB disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline B4GAT1 disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline POMGNT1 disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline POMT1 disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline LARGE1 disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline FKTN disease C0206157 Biomarker 0.2 disgenet
Myopathies, Nemaline CFL2 disease C0206157 GeneticVariation 0.14 orphanet , disgenet
Myopathies, Nemaline CFL2 disease C0206157 Biomarker 0.14 orphanet , disgenet
Myopathies, Nemaline CFL2 disease C0206157 CausalMutation 0.14 orphanet , disgenet
Myopathies, Nemaline RIF1 disease C0206157 CausalMutation 0.1 disgenet
Myopathies, Nemaline ACTB disease C0206157 Biomarker 0.1 disgenet
Myopathies, Nemaline RIF1 disease C0206157 GeneticVariation 0.1 disgenet
Myopathies, Nemaline ACTB disease C0206157 GeneticVariation 0.1 disgenet
Myopathies, Nemaline TPM1 disease C0206157 AlteredExpression 0.1 disgenet
Myopathies, Nemaline TPM1 disease C0206157 GeneticVariation 0.1 disgenet
Myopathies, Nemaline TPM1 disease C0206157 Biomarker 0.1 disgenet
Myopathies, Nemaline KLHL40 disease C0206157 Biomarker 0.07 disgenet
Myopathies, Nemaline KLHL40 disease C0206157 GeneticVariation 0.07 disgenet
Myopathies, Nemaline RYR1 disease C0206157 GeneticVariation 0.05 disgenet
Myopathies, Nemaline LMOD3 disease C0206157 GeneticVariation 0.05 orphanet , disgenet
Myopathies, Nemaline LMOD3 disease C0206157 Biomarker 0.05 orphanet , disgenet
Myopathies, Nemaline KBTBD13 disease C0206157 GeneticVariation 0.04 disgenet
Myopathies, Nemaline KBTBD13 disease C0206157 Biomarker 0.04 disgenet
Myopathies, Nemaline ACTC1 disease C0206157 AlteredExpression 0.02 disgenet
Myopathies, Nemaline ACTC1 disease C0206157 GeneticVariation 0.02 disgenet
Myopathies, Nemaline MSTN disease C0206157 Biomarker 0.02 disgenet
Myopathies, Nemaline HTC2 disease C0206157 Biomarker 0.02 disgenet
Myopathies, Nemaline HTC2 disease C0206157 GeneticVariation 0.02 disgenet
Myopathies, Nemaline CUL3 disease C0206157 Biomarker 0.02 disgenet
Myopathies, Nemaline NRAP disease C0206157 Biomarker 0.01 disgenet
Myopathies, Nemaline UCP3 disease C0206157 AlteredExpression 0.01 disgenet
Myopathies, Nemaline C16orf82 disease C0206157 GeneticVariation 0.01 disgenet
Myopathies, Nemaline GJB6 disease C0206157 GeneticVariation 0.01 disgenet
Myopathies, Nemaline MYOT disease C0206157 Biomarker 0.01 disgenet
Myopathies, Nemaline MYO18B disease C0206157 GeneticVariation 0.01 disgenet
Myopathies, Nemaline TNNT3 disease C0206157 GeneticVariation 0.01 disgenet
Myopathies, Nemaline DES disease C0206157 GeneticVariation 0.01 disgenet
Myopathies, Nemaline ACTN1 disease C0206157 Biomarker 0.01 disgenet
Myopathies, Nemaline ACHE disease C0206157 GeneticVariation 0.01 disgenet
Myopathies, Nemaline HK1 disease C0206157 AlteredExpression 0.01 disgenet
Myopathies, Nemaline MYH7 disease C0206157 Biomarker 0.01 disgenet
Myopathies, Nemaline EIF3K disease C0206157 Biomarker 0.01 disgenet
Myopathies, Nemaline MCOLN1 disease C0206157 GeneticVariation 0.01 disgenet
Myopathies, Nemaline EMD disease C0206157 Biomarker 0.01 disgenet
Myopathies, Nemaline ACTA2 disease C0206157 AlteredExpression 0.01 disgenet
Myopathies, Nemaline MYPN disease C0206157 GeneticVariation 0.01 disgenet
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