Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
KIF11 P52732 kinesin family member 11 Cellular structure 1.00 0.560 0.769
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577