Source: UNIPROT

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
F8 P00451 coagulation factor VIII Enzyme 1.00 0.542 0.769 1 198
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769 1 185
ATP7B P35670 ATPase copper transporting beta Transporter 4.8E-30 0.529 0.654 1 179
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 1 131
LDLR P01130 low density lipoprotein receptor 9.8E-24 0.449 0.885 1 128
GLA P06280 galactosidase alpha 1.00 0.537 0.769 1 117
GALT P07902 galactose-1-phosphate uridylyltransferase Enzyme 2.1E-06 0.612 0.654 1 115
OTC P00480 ornithine carbamoyltransferase 0.87 0.565 0.846 1 107
SLC12A3 P55017 solute carrier family 12 member 3 Transporter 3.0E-32 0.493 0.808 1 95
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692 1 82
MMUT P22033 methylmalonyl-CoA mutase Enzyme 1.7E-22 0.534 0.731 1 78
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577 1 77
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885 1 68
CPS1 P31327 carbamoyl-phosphate synthase 1 Enzyme 1.1E-09 0.590 0.615 1 67
F7 P08709 coagulation factor VII Enzyme 1.3E-05 0.623 0.615 1 66
NPHS1 O60500 NPHS1 adhesion molecule, nephrin 2.5E-14 0.597 0.615 1 66
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769 1 60
PKD1 P98161 polycystin 1, transient receptor potential channel interacting 1.00 0.493 0.769 1 59
RS1 O15537 retinoschisin 1 Enzyme 0.96 0.686 0.500 1 57
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923 1 56
F11 P03951 coagulation factor XI Enzyme 3.6E-26 0.590 0.692 1 56
SLC22A5 O76082 solute carrier family 22 member 5 Transporter 5.3E-16 0.608 0.731 1 55
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885 1 49
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885 1 47