Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha kinase; transferase 1.00 0.341 0.897 54 50
FGFR2 P21802 fibroblast growth factor receptor 2 1.00 0.398 0.759 53 57
FBN1 P35555 fibrillin 1 calcium-binding protein; cell adhesion molecule; extracellular matrix protein; signaling molecule 1.00 0.469 0.690 52 388
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase 1.00 0.352 0.793 52 72
FGFR3 P22607 fibroblast growth factor receptor 3 1.8E-05 0.417 0.759 48 37
HRAS P01112 HRas proto-oncogene, GTPase enzyme modulator 8.7E-02 0.404 0.828 40 20
COL7A1 Q02388 collagen type VII alpha 1 chain receptor 8.9E-42 0.552 0.586 39 52
KRAS P01116 KRAS proto-oncogene, GTPase enzyme modulator 9.0E-04 0.350 0.724 37 33
PTEN P60484 phosphatase and tensin homolog hydrolase; phosphatase 0.82 0.334 0.828 32 230
PTPN11 Q06124 protein tyrosine phosphatase, non-receptor type 11 1.00 0.429 0.828 32 69
MECP2 P51608 methyl-CpG binding protein 2 nucleic acid binding; transferase 0.78 0.463 0.862 30 270
LMNA P02545 lamin A/C 1.00 0.406 0.724 30 142
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.474 0.724 30 80
TTN Q8WZ42 titin 6.4E-84 0.534 0.655 29 358
CTNNB1 P35222 catenin beta 1 1.00 0.417 0.759 29 32
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus enzyme modulator 0.71 0.443 0.793 29 21
TTN-AS1 TTN antisense RNA 1 0.720 0.241 28 318
TMEM67 Q5HYA8 transmembrane protein 67 1.9E-23 0.559 0.655 28 74
GNB1 P62873 G protein subunit beta 1 enzyme modulator; hydrolase 1.00 0.645 0.483 28 9
RYR1 P21817 ryanodine receptor 1 receptor; transporter 2.3E-28 0.545 0.621 26 114
TYR P14679 tyrosinase 4.3E-32 0.505 0.724 25 63
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 transporter 0.88 0.527 0.552 24 112
MFN2 O95140 mitofusin 2 hydrolase; phosphatase 0.99 0.541 0.759 24 36
NF1 P21359 neurofibromin 1 enzyme modulator 1.00 0.458 0.724 23 409