Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
TICRR Q7Z2Z1 TOPBP1 interacting checkpoint and replication regulator 7.2E-14 0.769 0.423
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
POLR3H Q9Y535 RNA polymerase III subunit H Enzyme 6.0E-03 0.769 0.346