Disease: Hypercholesterolemia, Familial
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCA1 O95477 ATP binding cassette subfamily A member 1 Transporter 1.5E-13 0.467 0.846
ABO P16442 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Enzyme 0.427 0.885
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
APOA1 P02647 apolipoprotein A1 5.5E-04 0.429 0.885
APOA5 Q6Q788 apolipoprotein A5 5.6E-10 0.587 0.615
APOB P04114 apolipoprotein B 1.9E-16 0.453 0.808
APOC3 P02656 apolipoprotein C3 1.0E-02 0.531 0.731
APOE P02649 apolipoprotein E 1.9E-03 0.338 0.962
CELSR2 Q9HCU4 cadherin EGF LAG seven-pass G-type receptor 2 G-protein coupled receptor 1.00 0.656 0.577
CETP P11597 cholesteryl ester transfer protein 1.2E-23 0.512 0.731
COL9A1 P20849 collagen type IX alpha 1 chain 3.1E-19 0.566 0.731
EXT1 Q16394 exostosin glycosyltransferase 1 Enzyme 1.00 0.522 0.769
FTH1 P02794 ferritin heavy chain 1 Storage 0.14 0.559 0.731
HMGCR P04035 3-hydroxy-3-methylglutaryl-CoA reductase 1.00 0.529 0.692
LDLR P01130 low density lipoprotein receptor 9.8E-24 0.449 0.885
LIPC P11150 lipase C, hepatic type Enzyme 3.3E-07 0.585 0.654
LPA P08519 lipoprotein(a) Enzyme 6.6E-89 0.444 0.769
LPL P06858 lipoprotein lipase Enzyme 1.3E-09 0.474 0.808
MMP9 P14780 matrix metallopeptidase 9 Enzyme 1.9E-17 0.305 0.923
PON1 P27169 paraoxonase 1 9.8E-11 0.409 0.885
SLC22A3 O75751 solute carrier family 22 member 3 Transporter 7.8E-10 0.531 0.846
SLCO1B1 Q9Y6L6 solute carrier organic anion transporter family member 1B1 Transporter 1.1E-21 0.538 0.731
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
TBC1D9 Q6ZT07 TBC1 domain family member 9 Enzyme 2.8E-05 0.399 0.846
TNFSF13B Q9Y275 TNF superfamily member 13b 0.98 0.460 0.731