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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 |
|---|---|---|---|---|---|
| C0016202 | Flatfoot | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0016202 | Flatfoot | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0016202 | Flatfoot | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0016202 | Flatfoot | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0016202 | Flatfoot | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0016202 | Flatfoot | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0016085 | Filariasis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0016085 | Filariasis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0016085 | Filariasis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0016085 | Filariasis | LGALS2 | 3957 | galectin 2 | P05162 |
| C0016085 | Filariasis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0016065 | Polyostotic fibrous dysplasia | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0016065 | Polyostotic fibrous dysplasia | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0016063 | Osteitis Fibrosa Disseminata | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0016057 | Fibrosarcoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0016057 | Fibrosarcoma | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0016057 | Fibrosarcoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0016057 | Fibrosarcoma | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0016057 | Fibrosarcoma | PSAP | 5660 | prosaposin | P07602 |
| C0016057 | Fibrosarcoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0016057 | Fibrosarcoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0016057 | Fibrosarcoma | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0016057 | Fibrosarcoma | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0016057 | Fibrosarcoma | HK1 | 3098 | hexokinase 1 | P19367 |
| C0016057 | Fibrosarcoma | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
