Disease: Proximal lower limb amyotrophy
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577