Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GSPT2 Q8IYD1 G1 to S phase transition 2 Enzyme 0.98 0.821 0.154
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
RLIM Q9NVW2 ring finger protein, LIM domain interacting 0.99 0.686 0.500
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
FLG-AS1 FLG antisense RNA 1 0.700 0.538
PKP2 Q99959 plakophilin 2 Cellular structure 3.1E-18 0.606 0.538
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
COL4A2 P08572 collagen type IV alpha 2 chain 3.6E-15 0.563 0.654
FOXN1 O15353 forkhead box N1 0.94 0.615 0.654
ALDH1A3 P47895 aldehyde dehydrogenase 1 family member A3 Enzyme 0.14 0.578 0.654
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692