Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654