Disease: Neuromuscular Diseases
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EMD P50402 emerin 0.93 0.542 0.731
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577