Disease: Nystagmus, CTCAE 3.0
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
CRYGD P07320 crystallin gamma D 3.0E-04 0.510 0.808
ATN1 P54259 atrophin 1 1.00 0.409 0.885
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
MOCS1 Q9NZB8 molybdenum cofactor synthesis 1 9.1E-07 0.743 0.231
MOCS2 O96007 O96033 molybdenum cofactor synthesis 2 4.6E-04 0.729 0.308
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
NAGA P17050 alpha-N-acetylgalactosaminidase 1.8E-11 0.647 0.538
NDUFV1 P49821 NADH:ubiquinone oxidoreductase core subunit V1 6.4E-11 0.617 0.538
NDUFV2 P19404 NADH:ubiquinone oxidoreductase core subunit V2 5.6E-03 0.610 0.500
NEFL P07196 neurofilament light 0.488 0.769
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
RARS1 P54136 arginyl-tRNA synthetase 1 3.3E-08 0.604 0.538
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
LAGE3 Q14657 L antigen family member 3 0.13 0.670 0.462
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
WARS2 Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 5.1E-02 0.617 0.577
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538