Disease: Nystagmus, CTCAE 5.0
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TRPM1 Q7Z4N2 transient receptor potential cation channel subfamily M member 1 Ion channel 1.6E-42 0.626 0.462
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
TUBGCP6 Q96RT7 tubulin gamma complex associated protein 6 Cellular structure 2.6E-31 0.695 0.308
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
TYRP1 P17643 tyrosinase related protein 1 Enzyme 6.6E-25 0.507 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
RPGRIP1 Q96KN7 RPGR interacting protein 1 Enzyme modulator 1.3E-23 0.553 0.654
FANCL Q9NW38 FA complementation group L Enzyme 5.9E-23 0.551 0.731
SLX4 Q8IY92 SLX4 structure-specific endonuclease subunit 1.6E-22 0.565 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
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
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