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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 |
|---|---|---|---|---|---|
| C0025517 | Metabolic Diseases | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0025517 | Metabolic Diseases | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0025517 | Metabolic Diseases | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0025517 | Metabolic Diseases | GPIHBP1 | 338328 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Q8IV16 |
| C0025517 | Metabolic Diseases | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0025517 | Metabolic Diseases | LGALS3 | 3958 | galectin 3 | P17931 |
| C0025517 | Metabolic Diseases | LPL | 4023 | lipoprotein lipase | P06858 |
| C0025517 | Metabolic Diseases | STS | 412 | steroid sulfatase | P08842 |
| C0025517 | Metabolic Diseases | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0025517 | Metabolic Diseases | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0025517 | Metabolic Diseases | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0025517 | Metabolic Diseases | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0025517 | Metabolic Diseases | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0025517 | Metabolic Diseases | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0025517 | Metabolic Diseases | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0025517 | Metabolic Diseases | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0025517 | Metabolic Diseases | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0025517 | Metabolic Diseases | SFTPD | 6441 | surfactant protein D | P35247 |
| C0025517 | Metabolic Diseases | SI | 6476 | sucrase-isomaltase | P14410 |
| C0025517 | Metabolic Diseases | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0025517 | Metabolic Diseases | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0025517 | Metabolic Diseases | SLC2A5 | 6518 | solute carrier family 2 member 5 | P22732 |
| C0025517 | Metabolic Diseases | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0025517 | Metabolic Diseases | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0025517 | Metabolic Diseases | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
