Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731
GLDN Q6ZMI3 gliomedin 2.6E-13 0.769 0.346
ROR2 Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 1.2E-04 0.498 0.731
IL2RB P14784 interleukin 2 receptor subunit beta Receptor 0.29 0.491 0.846
FZD3 Q9NPG1 frizzled class receptor 3 G-protein coupled receptor 4.4E-04 0.659 0.577
ADGRG6 Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 6.6E-05 0.666 0.385