Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 656 3066
LDLR P01130 low density lipoprotein receptor 9.8E-24 0.449 0.885 336 1434
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 526 757
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 476 673
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 2494 527
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 301 402
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769 219 394
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 1349 384
UGT1A8 Q9HAW9 UDP glucuronosyltransferase family 1 member A8 1.3E-09 0.588 0.654 90 368
UGT1A10 Q9HAW8 UDP glucuronosyltransferase family 1 member A10 4.6E-19 0.588 0.615 88 348
ATP7B P35670 ATPase copper transporting beta Transporter 4.8E-30 0.529 0.654 182 333
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654 115 324
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654 181 320
UGT1A9 O60656 UDP glucuronosyltransferase family 1 member A9 5.4E-08 0.590 0.577 94 310
LMNA P02545 lamin A/C 1.00 0.384 0.885 824 285
UGT1A7 Q9HAW7 UDP glucuronosyltransferase family 1 member A7 8.7E-14 0.550 0.692 125 278
F8 P00451 coagulation factor VIII Enzyme 1.00 0.542 0.769 149 275
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 320 266
UGT1A6 P19224 UDP glucuronosyltransferase family 1 member A6 3.0E-07 0.560 0.654 115 229
GALT P07902 galactose-1-phosphate uridylyltransferase Enzyme 2.1E-06 0.612 0.654 87 224
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692 220 212
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 211 206
PKD1 P98161 polycystin 1, transient receptor potential channel interacting 1.00 0.493 0.769 217 201
UGT1A5 P35504 UDP glucuronosyltransferase family 1 member A5 9.4E-09 0.656 0.462 53 191