Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
WRN Q14191 WRN RecQ like helicase Enzyme 2.6E-34 0.524 0.808