Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHA disease C1969443 GeneticVariation 0.8 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHA disease C1969443 CausalMutation 0.8 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHA disease C1969443 Biomarker 0.8 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHA disease C1969443 GermlineCausalMutation 0.8 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHA disease C1969443 AlteredExpression 0.8 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHB disease C1969443 GermlineCausalMutation 0.78 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHB disease C1969443 GeneticVariation 0.78 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHB disease C1969443 Biomarker 0.78 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADHB disease C1969443 CausalMutation 0.78 orphanet , disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy INHCAP disease C1969443 GeneticVariation 0.02 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy TRIM39 disease C1969443 GeneticVariation 0.02 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy EHHADH disease C1969443 Biomarker 0.02 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy TRIM39 disease C1969443 AlteredExpression 0.02 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy CHPT1 disease C1969443 AlteredExpression 0.02 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy INHCAP disease C1969443 AlteredExpression 0.02 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy MTTP disease C1969443 GeneticVariation 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy DHDDS disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy MRRF disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy GBE1 disease C1969443 Biomarker 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy MT1B disease C1969443 GeneticVariation 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy CPOX disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy COX8A disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy HADH disease C1969443 GeneticVariation 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy CPT1A disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy GFM2 disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy SLC25A20 disease C1969443 Biomarker 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy CPT2 disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy ACADVL disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy COX5A disease C1969443 AlteredExpression 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy PTEN disease C1969443 GeneticVariation 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy SCO2 disease C1969443 GeneticVariation 0.01 disgenet
Trifunctional Protein Deficiency With Myopathy And Neuropathy GAA disease C1969443 Biomarker 0.01 disgenet
click here to return to the previous page