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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 |
|---|---|---|---|---|---|
| C0020474 | Hyperlipidemia, Familial Combined | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0020474 | Hyperlipidemia, Familial Combined | SELP | 6403 | selectin P | P16109 |
| C0020474 | Hyperlipidemia, Familial Combined | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0020473 | Hyperlipidemia | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0020473 | Hyperlipidemia | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0020473 | Hyperlipidemia | GLA | 2717 | galactosidase alpha | P06280 |
| C0020473 | Hyperlipidemia | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0020473 | Hyperlipidemia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0020473 | Hyperlipidemia | ARSA | 410 | arylsulfatase A | P15289 |
| C0020473 | Hyperlipidemia | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0020473 | Hyperlipidemia | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0020473 | Hyperlipidemia | KLB | 152831 | klotho beta | Q86Z14 |
| C0020473 | Hyperlipidemia | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0020473 | Hyperlipidemia | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0020473 | Hyperlipidemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0020473 | Hyperlipidemia | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0020473 | Hyperlipidemia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0020473 | Hyperlipidemia | LYZ | 4069 | lysozyme | P61626 |
| C0020473 | Hyperlipidemia | SDC1 | 6382 | syndecan 1 | P18827 |
| C0020473 | Hyperlipidemia | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0020473 | Hyperlipidemia | KL | 9365 | klotho | Q9UEF7 |
| C0020473 | Hyperlipidemia | CD38 | 952 | CD38 molecule | P28907 |
| C0020473 | Hyperlipidemia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0020473 | Hyperlipidemia | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0020473 | Hyperlipidemia | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
