Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692
JMJD8 Q96S16 jumonji domain containing 8 6.1E-14 0.861 0.192
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
TMEM186 Q96B77 transmembrane protein 186 5.2E-05 1.000 0.077