Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
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
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
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
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
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
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 54 264
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654 54 14
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846 47 14
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 46 51
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 46 99
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
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615 39 49
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577 34 1