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
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731
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
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769
HADHB P55084 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Enzyme 1.5E-11 0.619 0.692
IBA57 Q5T440 iron-sulfur cluster assembly factor IBA57 8.4E-03 0.666 0.423
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
MEGF10 Q96KG7 multiple EGF like domains 10 Extracellular structure 0.39 0.682 0.462