Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615