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
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
TBX5 Q99593 T-box transcription factor 5 Transcription factor 1.00 0.528 0.769
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577