Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
LMNA P02545 lamin A/C 1.00 0.384 0.885
LPIN1 Q14693 lipin 1 6.5E-13 0.601 0.692
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
NARS2 Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 7.1E-08 0.650 0.577
NEB P20929 nebulin 4.6E-41 0.608 0.692
NEFL P07196 neurofilament light 0.488 0.769
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
PIK3R5 Q8WYR1 phosphoinositide-3-kinase regulatory subunit 5 0.30 0.700 0.500
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
PNPLA2 Q96AD5 patatin like phospholipase domain containing 2 Enzyme 4.1E-03 0.511 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMGNT2 Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 5.6E-06 0.628 0.500
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
SIL1 Q9H173 SIL1 nucleotide exchange factor 1.2E-02 0.584 0.731
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615