Disease: Nystagmus, CTCAE 3.0
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
UCHL1 P09936 ubiquitin C-terminal hydrolase L1 Enzyme 0.99 0.482 0.885
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
PCYT1A P49585 phosphate cytidylyltransferase 1, choline, alpha 2.0E-05 0.485 0.885
NEFL P07196 neurofilament light 0.488 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
FXN Q16595 frataxin Enzyme 0.34 0.510 0.654
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
RORA P35398 RAR related orphan receptor A Nuclear receptor 0.40 0.533 0.808
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
ANK1 P16157 ankyrin 1 1.00 0.540 0.885