Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
WARS2 Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 5.1E-02 0.617 0.577