Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
NEB P20929 nebulin 4.6E-41 0.608 0.692
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
MARS1 P56192 methionyl-tRNA synthetase 1 2.1E-15 0.638 0.654
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
HADHB P55084 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Enzyme 1.5E-11 0.619 0.692
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
FKTN O75072 fukutin 8.7E-07 0.511 0.692
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731