Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538