Source: CURATED

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 49 395
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769 15 388
UGT1A9 O60656 UDP glucuronosyltransferase family 1 member A9 5.4E-08 0.590 0.577 10 288
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 42 277
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654 9 192
HLA-DRB1 P01911 major histocompatibility complex, class II, DR beta 1 Immune response 1.1E-03 0.333 0.923 68 172
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 68 157
CFH P08603 complement factor H 0.86 0.441 0.885 25 131
CPS1 P31327 carbamoyl-phosphate synthase 1 Enzyme 1.1E-09 0.590 0.615 18 118
FADS2 O95864 fatty acid desaturase 2 1.00 0.575 0.692 14 112
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885 36 107
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885 192 93
TF P02787 transferrin Enzyme 4.1E-08 0.527 0.846 47 70
HLA-A P04439 major histocompatibility complex, class I, A 1.3E-03 0.370 0.846 25 70
CP P00450 ceruloplasmin Enzyme 4.2E-10 0.466 0.846 75 62
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769 15 57
MCCC1 Q96RQ3 methylcrotonoyl-CoA carboxylase 1 Enzyme 4.0E-12 0.700 0.308 7 57
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 130 54
TTR P02766 transthyretin Transporter 0.52 0.423 0.885 36 54
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962 147 48
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885 78 47
ALDOB P05062 aldolase, fructose-bisphosphate B 7.9E-07 0.623 0.538 16 45
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769 9 44
ARG1 P05089 arginase 1 Enzyme 3.6E-04 0.476 0.846 20 39