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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 | GPC3 | 2719 | glypican 3 | P51654 |
| C0021051 | Immunologic Deficiency Syndromes | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0021051 | Immunologic Deficiency Syndromes | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0021051 | Immunologic Deficiency Syndromes | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0021051 | Immunologic Deficiency Syndromes | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0021051 | Immunologic Deficiency Syndromes | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0021051 | Immunologic Deficiency Syndromes | FASN | 2194 | fatty acid synthase | P49327 |
| C0021051 | Immunologic Deficiency Syndromes | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0021051 | Immunologic Deficiency Syndromes | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0021051 | Immunologic Deficiency Syndromes | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0021051 | Immunologic Deficiency Syndromes | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0021051 | Immunologic Deficiency Syndromes | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0021051 | Immunologic Deficiency Syndromes | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0021051 | Immunologic Deficiency Syndromes | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0021051 | Immunologic Deficiency Syndromes | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0021051 | Immunologic Deficiency Syndromes | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0021051 | Immunologic Deficiency Syndromes | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0021051 | Immunologic Deficiency Syndromes | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0021051 | Immunologic Deficiency Syndromes | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0021051 | Immunologic Deficiency Syndromes | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | STS | 412 | steroid sulfatase | P08842 |
