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
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
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
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808 70 16
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 69 37
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462 63 15
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