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
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
SMO Q99835 smoothened, frizzled class receptor G-protein coupled receptor 4.3E-07 0.489 0.731
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615