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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
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
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654 91 14
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
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
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 71 47
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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 62 28
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731 62 13
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70