Disease: Hyporeflexia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
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
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
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
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATP1A1 P05023 ATPase Na+/K+ transporting subunit alpha 1 Transporter 1.00 0.601 0.808
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846
B4GALNT1 Q00973 beta-1,4-N-acetyl-galactosaminyltransferase 1 3.9E-05 0.644 0.615
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
C19orf12 Q9NSK7 chromosome 19 open reading frame 12 0.34 0.641 0.615
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COA7 Q96BR5 cytochrome c oxidase assembly factor 7 (putative) 6.0E-02 0.792 0.231
COX6A1 P12074 cytochrome c oxidase subunit 6A1 Enzyme 2.3E-03 0.780 0.154
DCAF8 Q5TAQ9 DDB1 and CUL4 associated factor 8 Enzyme modulator 1.00 0.821 0.115
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
DNAJC6 O75061 DnaJ heat shock protein family (Hsp40) member C6 1.00 0.641 0.385
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
FDX2 Q6P4F2 ferredoxin 2 1.7E-03 0.780 0.346
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846