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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 |
|---|---|---|---|---|---|
| C0264408 | Childhood asthma | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0264408 | Childhood asthma | SFTPD | 6441 | surfactant protein D | P35247 |
| C0264408 | Childhood asthma | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0264408 | Childhood asthma | CD14 | 929 | CD14 molecule | P08571 |
| C0264408 | Childhood asthma | DAD1 | 1603 | defender against cell death 1 | P61803 |
| C0264408 | Childhood asthma | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0264408 | Childhood asthma | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0264408 | Childhood asthma | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0264408 | Childhood asthma | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0264408 | Childhood asthma | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0264408 | Childhood asthma | ACAA1 | 30 | acetyl-CoA acyltransferase 1 | P09110 |
| C0220743 | Childhood hypophosphatasia (disorder) | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0008297 | Choanal Atresia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0008297 | Choanal Atresia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0008297 | Choanal Atresia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0008297 | Choanal Atresia | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C0008297 | Choanal Atresia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0008297 | Choanal Atresia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0206698 | Cholangiocarcinoma | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0206698 | Cholangiocarcinoma | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0206698 | Cholangiocarcinoma | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0206698 | Cholangiocarcinoma | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0206698 | Cholangiocarcinoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0206698 | Cholangiocarcinoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0206698 | Cholangiocarcinoma | HPSE | 10855 | heparanase | Q9Y251 |
