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
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 71 47
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 69 37
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
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
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
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
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 41 32
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654 40 19
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462 35 11
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577 34 1