Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
PPOX P50336 protoporphyrinogen oxidase 2.8E-02 0.678 0.500