Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
LPIN1 Q14693 lipin 1 6.5E-13 0.601 0.692
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
POMGNT2 Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 5.6E-06 0.628 0.500
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
PIK3R5 Q8WYR1 phosphoinositide-3-kinase regulatory subunit 5 0.30 0.700 0.500
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
PNPLA2 Q96AD5 patatin like phospholipase domain containing 2 Enzyme 4.1E-03 0.511 0.846
ALG14 Q96F25 ALG14 UDP-N-acetylglucosaminyltransferase subunit 9.4E-04 0.722 0.308
NARS2 Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 7.1E-08 0.650 0.577
VPS13A Q96RL7 vacuolar protein sorting 13 homolog A 9.3E-22 0.650 0.577
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
INPP5K Q9BT40 inositol polyphosphate-5-phosphatase K Enzyme 4.2E-05 0.587 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
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423