Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AGRN O00468 agrin 5.5E-07 0.626 0.538
ALG14 Q96F25 ALG14 UDP-N-acetylglucosaminyltransferase subunit 9.4E-04 0.722 0.308
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
FGD4 Q96M96 FYVE, RhoGEF and PH domain containing 4 Enzyme modulator 9.8E-03 0.678 0.462
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654