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
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
RLIM Q9NVW2 ring finger protein, LIM domain interacting 0.99 0.686 0.500
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385