Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 76 18
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769 73 10
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462 63 15
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731 57 8
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 50 138
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 48 32
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 48 17
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462 46 10
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846 37 14
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731 31 43