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
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808