Disease: Nystagmus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
DGUOK Q16854 deoxyguanosine kinase Kinase 3.7E-07 0.593 0.500
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577