Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KIAA0753 Q2KHM9 KIAA0753 1.6E-28 0.631 0.577
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
DOCK6 Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 1.3E-26 0.610 0.577
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
NEK1 Q96PY6 NIMA related kinase 1 Kinase 1.9E-25 0.575 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
MMUT P22033 methylmalonyl-CoA mutase Enzyme 1.7E-22 0.534 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
IARS1 P41252 isoleucyl-tRNA synthetase 1 Enzyme 1.7E-21 0.606 0.692
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
DDX11 Q96FC9 DEAD/H-box helicase 11 Enzyme 2.3E-21 0.674 0.577
KIAA1109 Q2LD37 KIAA1109 3.3E-21 0.603 0.654
ELAC2 Q9BQ52 elaC ribonuclease Z 2 1.7E-20 0.670 0.346
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808