Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
POMP Q9Y244 proteasome maturation protein 0.91 0.674 0.346
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
FOXP4 Q8IVH2 forkhead box P4 0.98 0.700 0.346
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423