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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
FLG-AS1 FLG antisense RNA 1 0.700 0.538
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
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
MPZ P25189 myelin protein zero 0.27 0.503 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885