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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 |
|---|---|---|---|---|---|
| C0004623 | Bacterial Infections | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0004623 | Bacterial Infections | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0004623 | Bacterial Infections | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0004623 | Bacterial Infections | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0004623 | Bacterial Infections | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0004623 | Bacterial Infections | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0004623 | Bacterial Infections | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0004623 | Bacterial Infections | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0004623 | Bacterial Infections | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0004623 | Bacterial Infections | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0014121 | Bacterial Endocarditis | ENO1 | 2023 | enolase 1 | P06733 |
| C0014121 | Bacterial Endocarditis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014121 | Bacterial Endocarditis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0014121 | Bacterial Endocarditis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0014121 | Bacterial Endocarditis | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0014121 | Bacterial Endocarditis | ARSD | 414 | arylsulfatase D | P51689 |
| C0014121 | Bacterial Endocarditis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0014121 | Bacterial Endocarditis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0004576 | Babesiosis | UMOD | 7369 | uromodulin | P07911 |
| C1853137 | BRACHYDACTYLY-SYNDACTYLY SYNDROME | MBOAT1 | 154141 | membrane bound O-acyltransferase domain containing 1 | Q6ZNC8 |
| C1862112 | BRACHYDACTYLY, TYPE B1 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C4310624 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | ACOX2 | 8309 | acyl-CoA oxidase 2 | Q99424 |
| C1859486 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1859486 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1834674 | BETHLEM MYOPATHY 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
