Disease: Nystagmus, CTCAE 3.0
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNL1 tRNA 0.534 0.731
TRNW tRNA 0.563 0.731
WHCR Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
AP3B1 O00203 adaptor related protein complex 3 subunit beta 1 Transporter 0.62 0.619 0.808
NDUFS8 O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 0.17 0.636 0.538
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
PLK4 O00444 polo like kinase 4 Kinase 7.1E-06 0.551 0.731
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
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385
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
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
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
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
OGT O15294 O-linked N-acetylglucosamine (GlcNAc) transferase 1.00 0.626 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538