Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808 43 3
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 39 371
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654 38 16
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846 36 19
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 34 55
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 33 229