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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 |
|---|---|---|---|---|---|
| C0085110 | Severe Combined Immunodeficiency | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0085110 | Severe Combined Immunodeficiency | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0085110 | Severe Combined Immunodeficiency | HPSE | 10855 | heparanase | Q9Y251 |
| C0085110 | Severe Combined Immunodeficiency | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0085110 | Severe Combined Immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0085110 | Severe Combined Immunodeficiency | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0085110 | Severe Combined Immunodeficiency | CD38 | 952 | CD38 molecule | P28907 |
| C0085110 | Severe Combined Immunodeficiency | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0085110 | Severe Combined Immunodeficiency | LGALS1 | 3956 | galectin 1 | P09382 |
| C0085110 | Severe Combined Immunodeficiency | MELTF | 4241 | melanotransferrin | P08582 |
| C0085110 | Severe Combined Immunodeficiency | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0085110 | Severe Combined Immunodeficiency | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0085110 | Severe Combined Immunodeficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0085110 | Severe Combined Immunodeficiency | SRGN | 5552 | serglycin | P10124 |
| C0085110 | Severe Combined Immunodeficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0085110 | Severe Combined Immunodeficiency | GPC5 | 2262 | glypican 5 | P78333 |
| C0085110 | Severe Combined Immunodeficiency | LDHC | 3948 | lactate dehydrogenase C | P07864 |
| C0085110 | Severe Combined Immunodeficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0085110 | Severe Combined Immunodeficiency | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0085110 | Severe Combined Immunodeficiency | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0085110 | Severe Combined Immunodeficiency | CYP2J2 | 1573 | cytochrome P450 family 2 subfamily J member 2 | P51589 |
| C0085110 | Severe Combined Immunodeficiency | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0085110 | Severe Combined Immunodeficiency | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0085110 | Severe Combined Immunodeficiency | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0085110 | Severe Combined Immunodeficiency | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
