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
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
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
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769 73 10
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 71 47
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
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
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731 57 8
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 54 264
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
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
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