Disease: Nystagmus, CTCAE 3.0
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RNF113A O15541 ring finger protein 113A Enzyme 0.89 0.597 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
NDUFB3 O43676 NADH:ubiquinone oxidoreductase subunit B3 1.6E-05 0.705 0.538
SLC25A20 O43772 solute carrier family 25 member 20 Transporter 1.2E-07 0.563 0.769
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
PEX10 O60683 peroxisomal biogenesis factor 10 5.4E-04 0.584 0.654
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
DPM1 O60762 dolichyl-phosphate mannosyltransferase subunit 1, catalytic Enzyme 1.6E-04 0.695 0.385
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NDUFS7 O75251 NADH:ubiquinone oxidoreductase core subunit S7 0.91 0.579 0.769
NDUFS2 O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 1.4E-03 0.601 0.654
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
NDUFS6 O75380 NADH:ubiquinone oxidoreductase subunit S6 Enzyme 9.6E-02 0.686 0.423
PEX14 O75381 peroxisomal biogenesis factor 14 Receptor 0.23 0.592 0.692
NDUFS3 O75489 NADH:ubiquinone oxidoreductase core subunit S3 5.8E-04 0.581 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
RNASEH2A O75792 ribonuclease H2 subunit A Enzyme 4.2E-03 0.592 0.692