Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
PIGG Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 5.4E-15 0.792 0.231
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615