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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 |
|---|---|---|---|---|---|
| C0021051 | Immunologic Deficiency Syndromes | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0021051 | Immunologic Deficiency Syndromes | SDC1 | 6382 | syndecan 1 | P18827 |
| C0021051 | Immunologic Deficiency Syndromes | CALR | 811 | calreticulin | P27797 |
| C0021051 | Immunologic Deficiency Syndromes | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0021051 | Immunologic Deficiency Syndromes | CD38 | 952 | CD38 molecule | P28907 |
| C0021051 | Immunologic Deficiency Syndromes | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0021051 | Immunologic Deficiency Syndromes | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0021051 | Immunologic Deficiency Syndromes | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0021051 | Immunologic Deficiency Syndromes | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | Q96GR2 |
| C0021051 | Immunologic Deficiency Syndromes | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0021051 | Immunologic Deficiency Syndromes | CLEC9A | 283420 | C-type lectin domain containing 9A | Q6UXN8 |
| C0021051 | Immunologic Deficiency Syndromes | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0021051 | Immunologic Deficiency Syndromes | LGALS1 | 3956 | galectin 1 | P09382 |
| C0021051 | Immunologic Deficiency Syndromes | LGALS3 | 3958 | galectin 3 | P17931 |
| C0021051 | Immunologic Deficiency Syndromes | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0021051 | Immunologic Deficiency Syndromes | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0021051 | Immunologic Deficiency Syndromes | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0021051 | Immunologic Deficiency Syndromes | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0021051 | Immunologic Deficiency Syndromes | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0021051 | Immunologic Deficiency Syndromes | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0021051 | Immunologic Deficiency Syndromes | SCD5 | 79966 | stearoyl-CoA desaturase 5 | Q86SK9 |
| C0021051 | Immunologic Deficiency Syndromes | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0021051 | Immunologic Deficiency Syndromes | CD14 | 929 | CD14 molecule | P08571 |
| C0021051 | Immunologic Deficiency Syndromes | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0021051 | Immunologic Deficiency Syndromes | CD33 | 945 | CD33 molecule | P20138 |
