Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
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
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538