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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500