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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
FLNC Q14315 filamin C 1.00 0.568 0.615
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769