Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
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
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
ZNF462 Q96JM2 zinc finger protein 462 Transcription factor 1.00 0.711 0.462