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
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
TAF13 Q15543 TATA-box binding protein associated factor 13 Nucleic acid binding 1.6E-02 0.716 0.385