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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 |
|---|---|---|---|---|---|
| C0027092 | Myopia | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0027092 | Myopia | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0027092 | Myopia | NTM | 50863 | neurotrimin | Q9P121 |
| C0027092 | Myopia | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0027092 | Myopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0027092 | Myopia | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0027092 | Myopia | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0027092 | Myopia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0027092 | Myopia | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0027092 | Myopia | PXYLP1 | 92370 | 2-phosphoxylose phosphatase 1 | Q8TE99 |
| C0027092 | Myopia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0027092 | Myopia | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0027092 | Myopia | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C0027092 | Myopia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0027092 | Myopia | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0027092 | Myopia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027092 | Myopia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0027092 | Myopia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0027092 | Myopia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0027092 | Myopia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0027092 | Myopia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0027092 | Myopia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027121 | Myositis | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0027121 | Myositis | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0027121 | Myositis | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
