Disease: Hyporeflexia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
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
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
ATP1A1 P05023 ATPase Na+/K+ transporting subunit alpha 1 Transporter 1.00 0.601 0.808
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
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
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CFL2 Q9Y281 cofilin 2 6.4E-05 0.659 0.500
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
CHRNB2 P17787 cholinergic receptor nicotinic beta 2 subunit Ion channel 7.3E-04 0.617 0.308
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
COX6A1 P12074 cytochrome c oxidase subunit 6A1 Enzyme 2.3E-03 0.780 0.154
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