Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
ALS2 Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 8.7E-12 0.647 0.423
NLGN3 Q9NZ94 neuroligin 3 0.98 0.653 0.462
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
FLG-AS1 FLG antisense RNA 1 0.700 0.538
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
FIBP O43427 FGF1 intracellular binding protein 4.4E-06 0.674 0.538
BDNF-AS BDNF antisense RNA 0.638 0.538
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615