Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIGB Q92521 phosphatidylinositol glycan anchor biosynthesis class B Enzyme 3.9E-11 0.839 0.038
UQCC3 Q6UW78 ubiquinol-cytochrome c reductase complex assembly factor 3 3.2E-02 0.839 0.038
TSEN15 Q8WW01 tRNA splicing endonuclease subunit 15 0.28 0.769 0.115
MRPS2 Q9Y399 mitochondrial ribosomal protein S2 Nucleic acid binding 3.1E-07 0.839 0.154
GTPBP3 Q969Y2 GTP binding protein 3, mitochondrial 4.2E-09 0.805 0.154
PMPCB O75439 peptidase, mitochondrial processing subunit beta Enzyme 4.5E-08 0.769 0.192
KPTN Q9Y664 kaptin, actin binding protein 1.1E-05 0.769 0.192
TRNT1 Q96Q11 tRNA nucleotidyl transferase 1 1.6E-04 0.700 0.192
ATCAY Q86WG3 ATCAY kinesin light chain interacting caytaxin 0.62 0.805 0.192
FCSK Q8N0W3 fucose kinase Kinase 1.0E-29 0.769 0.192
AP2M1 Q96CW1 adaptor related protein complex 2 subunit mu 1 Extracellular structure 1.00 0.751 0.231
PIGH Q14442 phosphatidylinositol glycan anchor biosynthesis class H 0.23 0.760 0.231
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231
PIGG Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 5.4E-15 0.792 0.231
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231
TRMT5 Q32P41 tRNA methyltransferase 5 Enzyme 5.0E-02 0.769 0.231
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
BOLA3 Q53S33 bolA family member 3 0.15 0.760 0.231
SLC45A1 Q9Y2W3 solute carrier family 45 member 1 Transporter 2.5E-05 0.674 0.269
AP1S1 P61966 adaptor related protein complex 1 subunit sigma 1 Transporter 1.0E-01 0.743 0.308
TRHR P34981 thyrotropin releasing hormone receptor G-protein coupled receptor 0.27 0.695 0.308
PRSS12 P56730 serine protease 12 Enzyme 8.4E-29 0.682 0.308
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308