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
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231