Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PPOX P50336 protoporphyrinogen oxidase 2.8E-02 0.678 0.500
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
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
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462