Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
POLR3B Q9NW08 RNA polymerase III subunit B Enzyme 1.7E-23 0.628 0.654
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
PTRH2 Q9Y3E5 peptidyl-tRNA hydrolase 2 6.4E-04 0.641 0.577
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692