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
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
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
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
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
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731 57 8
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
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 46 51
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 36 7
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462 31 6
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769 31 10