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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 |
|---|---|---|---|---|---|
| C0032371 | Poliomyelitis | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0032371 | Poliomyelitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1858723 | Poikiloderma with Neutropenia | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C1858723 | Poikiloderma with Neutropenia | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C1858723 | Poikiloderma with Neutropenia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1858723 | Poikiloderma with Neutropenia | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C1858723 | Poikiloderma with Neutropenia | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0221168 | Podagra | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0032326 | Pneumothorax | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0032326 | Pneumothorax | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0032326 | Pneumothorax | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C3714636 | Pneumonitis | CHST7 | 56548 | carbohydrate sulfotransferase 7 | Q9NS84 |
| C3714636 | Pneumonitis | GLA | 2717 | galactosidase alpha | P06280 |
| C3714636 | Pneumonitis | ARSA | 410 | arylsulfatase A | P15289 |
| C3714636 | Pneumonitis | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C3714636 | Pneumonitis | CTSA | 5476 | cathepsin A | P10619 |
| C3714636 | Pneumonitis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C3714636 | Pneumonitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3714636 | Pneumonitis | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C3714636 | Pneumonitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3714636 | Pneumonitis | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C3714636 | Pneumonitis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3714636 | Pneumonitis | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C3714636 | Pneumonitis | LGALS9 | 3965 | galectin 9 | O00182 |
| C3714636 | Pneumonitis | SDC1 | 6382 | syndecan 1 | P18827 |
