Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
XK P51811 X-linked Kx blood group 0.95 0.575 0.654
VPS13A Q96RL7 vacuolar protein sorting 13 homolog A 9.3E-22 0.650 0.577
VCP P55072 valosin containing protein 1.00 0.469 0.923
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
SIL1 Q9H173 SIL1 nucleotide exchange factor 1.2E-02 0.584 0.731
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMGNT2 Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 5.6E-06 0.628 0.500
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
PNPLA2 Q96AD5 patatin like phospholipase domain containing 2 Enzyme 4.1E-03 0.511 0.846
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
PIK3R5 Q8WYR1 phosphoinositide-3-kinase regulatory subunit 5 0.30 0.700 0.500
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
NEFL P07196 neurofilament light 0.488 0.769
NEB P20929 nebulin 4.6E-41 0.608 0.692