Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 50 138
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 48 17
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 46 51
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462 46 10
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808 44 16
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500 43 2
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 41 32
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654 40 19
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 38 68
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846 36 19
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885 35 28
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462 35 11
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121