Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
GOSR2 O14653 golgi SNAP receptor complex member 2 Transporter 4.7E-07 0.653 0.423
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
FKTN O75072 fukutin 8.7E-07 0.511 0.692
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
LMNA P02545 lamin A/C 1.00 0.384 0.885
NEFL P07196 neurofilament light 0.488 0.769
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
NEB P20929 nebulin 4.6E-41 0.608 0.692
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
MPZ P25189 myelin protein zero 0.27 0.503 0.846
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
XK P51811 X-linked Kx blood group 0.95 0.575 0.654
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
VCP P55072 valosin containing protein 1.00 0.469 0.923
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769