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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 |
|---|---|---|---|---|---|
| C0020459 | Hyperinsulinism | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0020459 | Hyperinsulinism | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0020459 | Hyperinsulinism | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0020459 | Hyperinsulinism | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0020459 | Hyperinsulinism | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0020459 | Hyperinsulinism | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0020459 | Hyperinsulinism | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0020459 | Hyperinsulinism | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0020459 | Hyperinsulinism | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0020459 | Hyperinsulinism | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0020459 | Hyperinsulinism | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0020459 | Hyperinsulinism | CD14 | 929 | CD14 molecule | P08571 |
| C0020459 | Hyperinsulinism | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0020459 | Hyperinsulinism | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0020459 | Hyperinsulinism | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C0020459 | Hyperinsulinism | GCK | 2645 | glucokinase | P35557 |
| C0020459 | Hyperinsulinism | HK2 | 3099 | hexokinase 2 | P52789 |
| C0020459 | Hyperinsulinism | AMY1C | 278 | amylase alpha 1C | P04745 |
| C0020459 | Hyperinsulinism | AMY1A | 276 | amylase alpha 1A | P04745 |
| C0020459 | Hyperinsulinism | AMY1B | 277 | amylase alpha 1B | P04745 |
| C0020459 | Hyperinsulinism | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0020459 | Hyperinsulinism | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020459 | Hyperinsulinism | RENBP | 5973 | renin binding protein | P51606 |
| C0020459 | Hyperinsulinism | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0020459 | Hyperinsulinism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
