Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 71 47
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692 41 9
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769 32 74
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731 28 3
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769 26 28
PAX6 P26367 paired box 6 1.00 0.450 0.769 25 102
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885 23 30
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 22 50
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 20 17
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731 17 18
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769 16 11
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 16 48