Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577