Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
PKD1 P98161 polycystin 1, transient receptor potential channel interacting 1.00 0.493 0.769
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808