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
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
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
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
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
PPOX P50336 protoporphyrinogen oxidase 2.8E-02 0.678 0.500
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808