Disease: Nystagmus, CTCAE 3.0
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNL1 tRNA 0.534 0.731
TRNW tRNA 0.563 0.731
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
FEZF1 A0PJY2 FEZ family zinc finger 1 0.95 0.628 0.654
A2ML1 A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 1.6E-34 0.590 0.692
NDUFS8 O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 0.17 0.636 0.538
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462
NDUFA4 O00483 NDUFA4 mitochondrial complex associated Enzyme 2.4E-02 0.695 0.462
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
PEX7 O00628 peroxisomal biogenesis factor 7 8.2E-13 0.603 0.615
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
MRAS O14807 muscle RAS oncogene homolog Enzyme modulator 0.92 0.590 0.731
PHYH O14832 phytanoyl-CoA 2-hydroxylase 2.4E-06 0.659 0.577
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
NDUFA1 O15239 NADH:ubiquinone oxidoreductase subunit A1 0.55 0.636 0.423
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692