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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0020445 | Hypercholesterolemia, Familial | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0020445 | Hypercholesterolemia, Familial | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0020445 | Hypercholesterolemia, Familial | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0020445 | Hypercholesterolemia, Familial | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0020445 | Hypercholesterolemia, Familial | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0020445 | Hypercholesterolemia, Familial | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020445 | Hypercholesterolemia, Familial | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0020445 | Hypercholesterolemia, Familial | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0020445 | Hypercholesterolemia, Familial | ANXA5 | 308 | annexin A5 | P08758 |
| C0020445 | Hypercholesterolemia, Familial | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0020445 | Hypercholesterolemia, Familial | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0020445 | Hypercholesterolemia, Familial | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0020445 | Hypercholesterolemia, Familial | LPL | 4023 | lipoprotein lipase | P06858 |
| C0020445 | Hypercholesterolemia, Familial | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0020445 | Hypercholesterolemia, Familial | SELE | 6401 | selectin E | P16581 |
| C0020445 | Hypercholesterolemia, Familial | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0020445 | Hypercholesterolemia, Familial | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0020445 | Hypercholesterolemia, Familial | LIPG | 9388 | lipase G, endothelial type | Q9Y5X9 |
| C0020445 | Hypercholesterolemia, Familial | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0020445 | Hypercholesterolemia, Familial | GK | 2710 | glycerol kinase | P32189 |
| C0020445 | Hypercholesterolemia, Familial | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0020445 | Hypercholesterolemia, Familial | SDC2 | 6383 | syndecan 2 | P34741 |
| C0020445 | Hypercholesterolemia, Familial | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0020445 | Hypercholesterolemia, Familial | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0020445 | Hypercholesterolemia, Familial | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
