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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 |
|---|---|---|---|---|---|
| C0398650 | Immune thrombocytopenic purpura | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0398691 | Hyperimmunoglobulinemia D | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0398738 | Leukocyte adhesion deficiency type 1 | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0398738 | Leukocyte adhesion deficiency type 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0398738 | Leukocyte adhesion deficiency type 1 | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0398738 | Leukocyte adhesion deficiency type 1 | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0398738 | Leukocyte adhesion deficiency type 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0398738 | Leukocyte adhesion deficiency type 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0398738 | Leukocyte adhesion deficiency type 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0398738 | Leukocyte adhesion deficiency type 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0398739 | Congenital disorder of glycosylation, type 2C | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0398739 | Congenital disorder of glycosylation, type 2C | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0398739 | Congenital disorder of glycosylation, type 2C | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0398739 | Congenital disorder of glycosylation, type 2C | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0398791 | Nijmegen Breakage Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
