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