Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462