Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769