Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808